Research by Topic: Autism Science

Genes, environment and heritability: why does it matter?

Published July 29, 2019 in ASF Podcast

This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families.  What it did not do was calculate the role of gene x environment interactions which seems to […]

https://asfpodcast.org/archives/794

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Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

Published July 15, 2019 in ASF Podcast

This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15.  He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this […]

https://asfpodcast.org/archives/790

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If you can make it there, you can make it anywhere: preparing early interventions for the community

Published July 8, 2019 in ASF Podcast

This week two groups of heroes of autism research published studies that may not be the type of major breakthrough that the media reports on, but they are more important to families:  These studies help translate what works in the research clinic into the community.  Specifically, is it even possible, how, and what do families […]

https://asfpodcast.org/archives/783

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What’s new in the immune system and ASD

Published July 2, 2019 in ASF Podcast

This holiday weekend always triggers a reincarnation, a resurrection of the vaccine – autism hypothesis.  Many of you have read about the measles epidemics that are hitting many areas of the country.  But besides vaccines, there are other aspects of the immune system that may be linked to autism in some people.  The include family […]

https://asfpodcast.org/archives/743

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Happy Pride all!

Published July 2, 2019 in ASF Podcast

This week’s podcast is dedicated to the “T” in LGBTQ –  trans.  Several studies over the past few years have linked higher rates of gender variance in people with autism and higher rates of autism traits in those who are trans.  Why?  Are they biologically or psychologically linked or both?  This is important for understanding, […]

https://asfpodcast.org/archives/776

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Are animal models for ASD a monkey wrench or useful tool?

Published July 2, 2019 in ASF Podcast

A new animal model of autism appeared this week:  the monkey.  This adds to the ever growing list of different model systems from autism, from fruit flies to mice and rats now up to monkeys.  Are these animal models useful and for what, and why isn’t there just ONE model of autism rather than the […]

https://asfpodcast.org/archives/771

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Guys, we all need exercise

Published July 2, 2019 in ASF Podcast

People with autism are less likely to be physically active and more likely to be sedentary.    A number of studies have looked into different physical activities, both group based and individually, on improvements in health as well as core features of autism, and most have had positive results.  New animal model research demonstrates a […]

https://asfpodcast.org/archives/768

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Yeah, another study about autistic poop

Published July 2, 2019 in ASF Podcast

This week’s podcast includes a summary of the new study, this time in an animal model, looking at microbiome transplantation.  Because this was more of an experimental model, the researchers could be more rigorous in their design and look at things like behavior, brain activity, and specific biological pathways.  While a mouse does not have […]

https://asfpodcast.org/archives/764

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The Department of Defense and Autism Research

Published July 2, 2019 in ASF Podcast

Did you know that in addition to the DoD’s support of the military, they all have funded $65 million in autism research?  This podcast discusses some of their programs and how they support military families and benefit the autism community. Want to read more about what they fund?  There’s a list here:  https://cdmrp.army.mil/search.aspx

https://asfpodcast.org/archives/761

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Getting Autistic People to Work

Published July 2, 2019 in ASF Podcast

This week’s podcast is dedicated to the recently released INSAR – supported employment policy brief.  This was a 2 year project by ASF, Stony Brook, University, Karolinska Institute in Sweden and Curtin University in Australia to provide a cross-cultural perspective on getting autistic people who want to work, employed, and stay employed.  Thank you to […]

https://asfpodcast.org/archives/757

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Getting kids with autism to eat

Published July 2, 2019 in ASF Podcast

This week’s podcast combines two important post Mother’s Day topics – parents and eating.  Two recent studies have shown the promise of using parent – delivered interventions to help improve food selectivity and food aversions in kids with autism. These two behaviors can be one of the most frustrating and challenging for parents and kids, […]

https://asfpodcast.org/archives/753

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INSAR with a T, for “technology”

Published July 2, 2019 in ASF Podcast

Lots of news outlets have great summaries of things that were presented at the International Society for Autism Research. However, one area was relatively missed:  technology.    This week’s podcast summarizes advances in technology for people with autism, how they are being used, what they could be used for and how they will improve services […]

https://asfpodcast.org/archives/750

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How do parents choose different interventions?

Published July 2, 2019 in ASF Podcast

Parents have choices of dozens of different autism interventions, available in private and public settings.  A new study explores factors which influence parents decisions on different interventions, how they are similar to each other and different.  They include cognitive ability of their kids with ASD and economic resources.  Parents in the US may have similarities […]

https://asfpodcast.org/archives/746

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This study is s**t

Published July 2, 2019 in ASF Podcast

You may have heard on the internet that a new “radical” treatment leads to a “50% reduction” in autism symptoms.  This radical treatment is fecal transplants, which is taking the bacteria from the feces from one person and putting them in another person.  This is a still experimental treatment, and while the microbiome should be […]

https://asfpodcast.org/archives/737

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The good and evil sides of technology use by autistics

Published July 2, 2019 in ASF Podcast

This year’s Day of Learning included two presentations on the use of technology among people with autism.  As it turns out, technology can be great.  In fact, a new study using Google Glass shows promise in improving socialization.  On the other hand, sometimes technology can have a downside.  People with autism spend more time than […]

https://asfpodcast.org/archives/732

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Do the rules apply in school?

Published July 2, 2019 in ASF Podcast

This week is focused on what happens in schools, including classification, service receipt and new interventions.  How an educational classification translates to a clinical diagnosis, how and what factors are important in receiving services, what teachers think about repetitive behaviors and finally, a new intervention that can be delivered by therapists in school or mental […]

https://asfpodcast.org/archives/728

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DSM5 – where are we now?

Published July 1, 2019 in ASF Pocast

Don’t be fooled, not all the studies on this week’s podcast focus on the DSM5.  But the first one, a review of a meta analysis and review of the dozens of publications that have emerged in the past 5 years around the DSM5 leads us off.  There are some people that weren’t captured by either […]

https://asfpodcast.org/archives/722

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What does and does not change the probability of an autism diagnosis

Published July 1, 2019 in ASF Podcast

Once again, this week another study  came out dismissing the link between vaccines and autism.  Add this one to the list, but this is one of the largest and takes into account genetic and non-genetic risk factors.  It continues to discredit the vaccine-autism link.  However, in other science, more evidence that prenatal folic acid supplementation, […]

https://asfpodcast.org/archives/719

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An update on females with autism, on the double

Published July 1, 2019 in ASF Podcast

Females with autism are different than males with autism in a lot of ways.  This week, researchers used twins to examine the differences between males and females with autism in their brain structure and how it’s associated with autism traits, not a diagnosis.  To do this, researchers in Sweden turned to twins.  As it turns […]

https://asfpodcast.org/archives/713

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A topic for discussion on President’s Day: violence and victimization

Published July 1, 2019 in ASF Podcast

Happy President’s Day!  This week’s podcast is focuses on a topic that has been on the mind of families affected by autism:  autism and violence and victimization.  The studies reinforce 1) the lack of an association between autism and criminality, 2) the association of an autism diagnosis with being the victim of abuse.  This includes […]

https://asfpodcast.org/archives/709

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Autism spectrum disorders underneath a bigger umbrella: more data from the brain

Published July 1, 2019 in ASF Podcast

There is demonstrated genetic overlap between many neurodevelopment disorders including  ASD, ADHD, and schizophrenia, and now there is data showing similarities in the structure and size of the brains in people with autism and those with ADHD.  These differences depend on how severe social difficulties are, but the similarities are seen with ASD and ADHD, […]

https://asfpodcast.org/archives/702

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Infant motor issues and later autism diagnosis

Published July 1, 2019 in ASF Podcast

Everyone knows the way to study infants with autism is through thorough testing of younger siblings of those with a diagnosis, who have a 15x greater chance of have a diagnosis themselves.   Through these methods, new ways of identifying and predicting autism  later on have been developed.  On this week’s podcast:   two very […]

https://asfpodcast.org/archives/698

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Genes and Environment, Genes and Environment. Go together like aging and retirement

Published July 1, 2019 in ASF Podcast

Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits.  In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and […]

https://asfpodcast.org/archives/693

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The latest on complementary and alternative medicines

Published July 1, 2019 in ASF Podcast

Even though many parents of kids with autism and  autistic adults are using cannabis (THC and CBD) and cannabidiols (CBD only), these treatments are technically illegal.  So how are pediatricians discussing these options with their patients when asked?  A few pediatricians from states where it is legal for adults to obtain cannabis containing products weigh […]

https://asfpodcast.org/archives/687

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Understanding the hard to research

Published July 1, 2019 in ASF Podcast

What do Princess Kate and Amy Schumer have in common, and what does it have to do with autism?  The answer:  Hyperemesis Gravidum.  It’s linked to autism, but not strongly, but it does show more evidence of significant overlap between many neuropsychiatric issues and disorders. More importantly though, those with low verbal ability and low […]

https://asfpodcast.org/archives/683

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Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014

Published June 26, 2019 in Morbidity and Mortality Weekly Report

PROBLEM/CONDITION: Autism spectrum disorder (ASD). PERIOD COVERED: 2014. DESCRIPTION OF SYSTEM: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system that provides estimates of the prevalence of autism spectrum disorder (ASD) among children aged 8 years whose parents or guardians reside within 11 ADDM sites in the United States (Arizona, Arkansas, […]

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5919599/

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Understanding Service Usage and Needs for Adults with ASD: The Importance of Living Situation

Published June 26, 2019 in Journal of Autism and Developmental Disorders

With the increasing prevalence of adults with autism spectrum disorder (ASD), research examining the service experiences of this population is greatly needed. The current study investigated service use, unmet needs, and obstacles to service access for a large sample of adults with ASD. After accounting for various demographic factors known to impact service usage and […]

https://link.springer.com/article/10.1007%2Fs10803-018-3729-0

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Psychiatric and Medical Conditions in Transition-Aged Individuals With ASD

Published June 26, 2019 in Pediatrics

BACKGROUND AND OBJECTIVES: Children with autism spectrum disorder (ASD) have a variety of medical and psychiatric conditions and an increased use of health care services. There is limited information about the prevalence of psychiatric and medical conditions in adolescents and young adults with ASD. Our objective was to describe the frequency of medical and psychiatric […]

https://pediatrics.aappublications.org/content/141/Supplement_4/S335.long

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Autism spectrum disorder symptoms from ages 2 to 19 years: Implications for diagnosing adolescents and young adults

Published June 26, 2019 in Autism Research

This study explored change in social-communicative symptoms in 140 individuals with childhood autism spectrum disorder (ASD) diagnoses. Trajectories of caregiver-reported social-communicative symptoms were examined for three groups (verbal, delayed speech, minimally verbal) from ages 2 to 19 years. Groups showed comparable levels of social-communicative impairment at 2 years and significant decreases in overall symptom levels […]

https://onlinelibrary.wiley.com/doi/full/10.1002/aur.2004

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Effects of State Autism Mandate Age Caps on Health Service Use and Spending Among Adolescents

Published June 26, 2019 in Journal of the American Academy of Child and Adolescent Psychiatry

OBJECTIVE: Many states with mandates requiring commercial insurers to cover autism spectrum disorder (ASD) health services specify upper age limits above which coverage is no longer mandated. It is unknown what effects these age caps have on health service use and spending among adolescents who have exceeded the age cap. METHOD: Using administrative claims data […]

https://jaacap.org/article/S0890-8567(17)31867-1/fulltext

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Are Children Severely Affected by Autism Spectrum Disorder Underrepresented in Treatment Studies? An Analysis of the Literature

Published June 26, 2019 in Journal of Autism and Developmental Disorders

Despite significant advances in autism research, experts have noted that children severely affected by autism spectrum disorder (ASD) appear to have been understudied. Rigorous analysis of this observation has been limited, and the representation of severity has not been well-described. We assessed three domains of severity (communication ability, cognitive functioning, and adaptive functioning) in 367 […]

https://link.springer.com/article/10.1007%2Fs10803-018-3844-y

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Meta-analysis of parent-mediated interventions for young children with autism spectrum disorder

Published June 26, 2019 in Autism

A number of studies of parent-mediated interventions in autism spectrum disorder have been published in the last 15 years. We reviewed 19 randomized clinical trials of parent-mediated interventions for children with autism spectrum disorder between the ages of 1 and 6 years and conducted a meta-analysis on their efficacy. Meta-analysis outcomes were autism spectrum disorder symptom severity, […]

https://journals.sagepub.com/doi/10.1177/1362361316677838

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Cluster randomized trial of the classroom SCERTS intervention for elementary students with autism spectrum disorder

Published June 26, 2019 in Journal of Consulting and Clinical Psychology

OBJECTIVE: This cluster randomized trial (CRT) evaluated the efficacy of the Classroom Social, Communication, Emotional Regulation, and Transactional Support (SCERTS) Intervention (CSI) compared with usual school-based education with autism training modules (ATM). METHOD: Sixty schools with 197 students with autism spectrum disorder (ASD) in 129 classrooms were randomly assigned to CSI or ATM. Mean student […]

https://psycnet.apa.org/record/2018-30216-006

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De novo mutations in regulatory elements in neurodevelopmental disorders

Published June 26, 2019 in nature

We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We identified de novo mutations in three classes of putative regulatory elements in almost […]

https://www.nature.com/articles/nature25983

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Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

Published June 26, 2019 in Science

Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments of transcriptomic organization in diseased brains are limited. In this work, we integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, and bipolar disorder, as well […]

https://science.sciencemag.org/content/362/6420/eaat8127.long

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Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

Published June 26, 2019 in Science

The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how genetic variants impart brain dysfunction or pathology. We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders-autism, schizophrenia, bipolar disorder, depression, and alcoholism-compared with matched controls. We identified patterns […]

https://science.sciencemag.org/content/359/6376/693.long

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Paternally inherited cis-regulatory structural variants are associated with autism

Published June 26, 2019 in Science

The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in […]

https://science.sciencemag.org/content/360/6386/327.long

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Analysis of shared heritability in common disorders of the brain

Published June 26, 2019 in Science

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, […]

https://science.sciencemag.org/content/360/6395/eaap8757.long

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Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition

Published June 26, 2019

Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we found that brief treatment with romidepsin, a highly potent class I histone deacetylase (HDAC) inhibitor, alleviated social deficits in Shank3-deficient mice, which persisted for ~3 weeks. HDAC2 transcription was upregulated in […]

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Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism

Published June 26, 2019 in Proceedings of the National Academy of Sciences of the United States of America

Remarkably little is known about the postnatal cellular development of the human amygdala. It plays a central role in mediating emotional behavior and has an unusually protracted development well into adulthood, increasing in size by 40% from youth to adulthood. Variation from this typical neurodevelopmental trajectory could have profound implications on normal emotional development. We […]

https://www.pnas.org/content/115/14/3710.long

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A longitudinal study of parent-reported sensory responsiveness in toddlers at-risk for autism

Published June 26, 2019 in The Journal of Child Psychology and Psychiatry

BACKGROUND: Atypical sensory responsivity and sensory interests are now included in the DSM 5 diagnostic criteria for autism spectrum disorder (ASD) under the broad domain of restricted and repetitive behavior (RRB). However, relatively little is known about the emergence of sensory-related features and their relation to conventionally defined RRB in the first years of life. […]

https://onlinelibrary.wiley.com/doi/abs/10.1111/jcpp.12978

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Automatic emotion and attention analysis of young children at home: a ResearchKit autism feasibility study

Published June 26, 2019 in nature

Current tools for objectively measuring young children’s observed behaviors are expensive, time-consuming, and require extensive training and professional administration. The lack of scalable, reliable, and validated tools impacts access to evidence-based knowledge and limits our capacity to collect population-level data in non-clinical settings. To address this gap, we developed mobile technology to collect videos of […]

https://www.nature.com/articles/s41746-018-0024-6

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What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis

Published June 24, 2019 in Journal of the American Academy of Child and Adolescent Psychiatry

OBJECTIVE: To derive the first systematically calculated estimate of the relative proportion of boys and girls with autism spectrum disorder (ASD) through a meta-analysis of prevalence studies conducted since the introduction of the DSM-IV and the International Classification of Diseases, Tenth Revision.METHOD: Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The […]

https://jaacap.org/article/S0890-8567(17)30152-1/fulltext

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Autism Spectrum Disorder Among US Children (2002-2010): Socioeconomic, Racial, and Ethnic Disparities

Published June 24, 2019 in American Journal of Public Health

OBJECTIVES: To describe the association between indicators of socioeconomic status (SES) and the prevalence of autism spectrum disorder (ASD) in the United States during the period 2002 to 2010, when overall ASD prevalence among children more than doubled, and to determine whether SES disparities account for ongoing racial and ethnic disparities in ASD prevalence.METHODS: We […]

https://ajph.aphapublications.org/doi/full/10.2105/AJPH.2017.304032?

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Injury Mortality in Individuals With Autism

Published June 24, 2019 in American Journal of Public Health

OBJECTIVES: o examine epidemiological patterns of injury fatalities in individuals with a diagnosis of autism.METHODS: We identified individuals with a diagnosis of autism who died between 1999 and 2014 by screening causes of death in the multiple cause-of-death data files in the National Vital Statistics System based on the International Classification of Diseases, 10th Revision, […]

https://ajph.aphapublications.org/doi/abs/10.2105/AJPH.2017.303696?

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Cost Offset Associated With Early Start Denver Model for Children With Autism

Published June 24, 2019 in Journal of the American Academy of Child & Adolescent Psychiatry

OBJECTIVE: To determine the effect of the Early Start Denver Model (ESDM) for treatment of young children with autism on health care service use and costs.METHOD: We used data from a randomized trial that tested the efficacy of the ESDM, which is based on developmental and applied behavioral analytic principles and delivered by trained therapists […]

https://jaacap.org/article/S0890-8567(17)30313-1/fulltext

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Effects Of State Insurance Mandates On Health Care Use And Spending For Autism Spectrum Disorder

Published June 24, 2019 in Health Affairs

Forty-six states and the District of Columbia have enacted insurance mandates that require commercial insurers to cover treatment for children with autism spectrum disorder (ASD). This study examined whether implementing autism mandates altered service use or spending among commercially insured children with ASD. We compared children age twenty-one or younger who were eligible for mandates […]

Forty-six states and the District of Columbia have enacted insurance mandates that require commercial insurers to cover treatment for children with autism spectrum disorder (ASD). This study examined whether implementing autism mandates altered service us

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Parent-delivered early intervention in infants at risk for ASD: Effects on electrophysiological and habituation measures of social attention

Published June 24, 2019 in Autism Research

Prospective longitudinal studies of infants with older siblings with autism spectrum disorder (ASD) have indicated that differences in the neurocognitive systems underlying social attention may emerge prior to the child meeting ASD diagnostic criteria. Thus, targeting social attention with early intervention might have the potential to alter developmental trajectories for infants at high risk for […]

https://onlinelibrary.wiley.com/doi/abs/10.1002/aur.1754

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A Randomized, Placebo-Controlled Trial of Metformin for the Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorder: Open-Label Extension

Published June 24, 2019 in Journal of the American Academy of Child & Adolescent Psychiatry

OBJECTIVE: A previous study reported on a 16-week placebo-controlled, randomized clinical trial (RCT) of metformin for weight stabilization in 61 children and adolescents 6 to 17 years old with autism spectrum disorder who were prescribed atypical antipsychotics. The present study describes the results of a 16-week open-label extension.METHOD: Fifty-two participants from the acute trial (85%) […]

https://jaacap.org/article/S0890-8567(17)31180-2/fulltext

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Adaptive behavior in autism: Minimal clinically important differences on the Vineland-II

Published June 24, 2019 in Autism Research

Autism Spectrum Disorder (ASD) is associated with persistent impairments in adaptive abilities across multiple domains. These social, personal, and communicative impairments become increasingly pronounced with development, and are present regardless of IQ. The Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) is the most commonly used instrument for quantifying these impairments, but minimal clinically important differences […]

https://onlinelibrary.wiley.com/doi/abs/10.1002/aur.1874

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The association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders in children: a meta-analysis

Published June 24, 2019 in Molecular Autism

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625821/

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Autism risk following antidepressant medication during pregnancy

Published June 24, 2019 in Psychological Medicine

BACKGROUND: Previous studies have examined if maternal antidepressant medication during pregnancy increase the risk of autism spectrum disorder (ASD) in the offspring, but the results have been conflicting.METHODS: In a population-based cohort of 179 007 children born in 2006 and 2007 and followed through 2014 when aged 7 and 8, we estimated relative risks (RRs) of […]

https://www.cambridge.org/core/journals/psychological-medicine/article/autism-risk-following-antidepressant-medication-during-pregnancy/20AEF7A7CDDA81E60136F4FE0A73C692#

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Maternal Multivitamin Intake, Plasma Folate and Vitamin B12 Levels and Autism Spectrum Disorder Risk in Offspring

Published June 24, 2019 in Paediatric and Perinatal Epidemiology

BACKGROUND: To examine the prospective association between multivitamin supplementation during pregnancy and biomarker measures of maternal plasma folate and vitamin B12 levels at birth and child’s Autism Spectrum Disorder (ASD) risk.METHODS: This report included 1257 mother-child pairs, who were recruited at birth and prospectively followed through childhood at the Boston Medical Center. ASD was defined from […]

https://onlinelibrary.wiley.com/doi/full/10.1111/ppe.12414

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Prenatal exposure to fever is associated with autism spectrum disorder in the boston birth cohort

Published June 24, 2019 in Autism Research

Autism spectrum disorder (ASD) is phenotypically and etiologically heterogeneous, with evidence for genetic and environmental contributions to disease risk. Research has focused on the prenatal period as a time where environmental exposures are likely to influence risk for ASD. Epidemiological studies have shown significant associations between prenatal exposure to maternal immune activation (MIA), caused by […]

https://onlinelibrary.wiley.com/doi/abs/10.1002/aur.1841

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Fetal and postnatal metal dysregulation in autism

Published June 24, 2019 in Nature Communications

Genetic and environmental factors contribute to the etiologies of autism spectrum disorder (ASD), but evidence of specific environmental exposures and susceptibility windows is limited. Here we study monozygotic and dizygotic twins discordant for ASD to test whether fetal and postnatal metal dysregulation increases ASD risk. Using validated tooth-matrix biomarkers, we estimate pre- and post-natal exposure […]

https://www.nature.com/articles/ncomms15493

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Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder

Published June 24, 2019 in Nature Communications

Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available […]

https://www.nature.com/articles/s41467-017-00868-y

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Infant viewing of social scenes is under genetic control and is atypical in autism

Published June 24, 2019 in nature

Long before infants reach, crawl or walk, they explore the world by looking: they look to learn and to engage, giving preferential attention to social stimuli, including faces, face-like stimuli and biological motion. This capacity-social visual engagement-shapes typical infant development from birth and is pathognomonically impaired in children affected by autism. Here we show that […]

https://www.nature.com/articles/nature22999

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A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder

Published June 24, 2019 in Journal of Autism and Developmental Disorders

The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. […]

https://link.springer.com/article/10.1007%2Fs10803-017-3200-7

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Early brain development in infants at high risk for autism spectrum disorder

Published June 24, 2019 in nature

Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the appearance of behavioural symptoms, are unknown. Retrospective head circumference and longitudinal brain volume studies of two-year olds followed up at four years of age have provided evidence that increased brain […]

https://www.nature.com/articles/nature21369

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Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age

Published June 24, 2019 in Science Translational Medicine

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high […]

https://stm.sciencemag.org/content/9/393/eaag2882.short

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Race influences parent report of concerns about symptoms of autism spectrum disorder

Published June 24, 2019 in Autism

Racial differences in parent report of concerns about their child’s development to healthcare providers may contribute to delayed autism spectrum disorder diagnoses in Black children. We tested the hypotheses that compared to White parents, Black parents of children with autism spectrum disorder would report fewer concerns about autism symptoms and would be more likely to […]

https://journals.sagepub.com/doi/abs/10.1177/1362361317722030?

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EEG Analytics for Early Detection of Autism Spectrum Disorder: A data-driven approach

Published June 19, 2019 in Scientific Reports

Autism spectrum disorder (ASD) is a complex and heterogeneous disorder, diagnosed on the basis of behavioral symptoms during the second year of life or later. Finding scalable biomarkers for early detection is challenging because of the variability in presentation of the disorder and the need for simple measurements that could be implemented routinely during well-baby […]

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931530/

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A Summary of this Year in Autism Science by Dr. Halladay and the Scientific Advisory Board

Published December 28, 2017

For a thorough review of what impact research further revealed about the science of autism, be sure to read our year-end science summary on our blog here, compiled and written by our Dr. Alycia Halladay, our Chief Science Officer, and our Scientific Advisory Board. From heterogeneity to big data, from studies on females to those […]

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A Systematic Review and Meta-Analysis of Multiple Airborne Pollutants and Autism Spectrum Disorder

Published September 22, 2016

A new systematic review evaluated and organized existing scientific studies on the question of whether or not there was a relationship between air pollution and autism. After considering strengths and limitations of the body of research, the authors concluded that there is limited evidence between exposure to air pollution as a whole and ASD diagnosis. […]

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Autism BrainNet family’s brave decision featured on CNN

Published September 16, 2016

Released September 15, 2016, this new report on CNN highlights the importance of brain donation and brain tissue research. To learn more about the Autism BrainNet, click here.

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Day and Nighttime Excretion of 6-sulphatoxymelatonin in Adolescents and Young Adults with Autistic Disorder

Published December 8, 2015 in Psychoneuroendocrinology

Low melatonin excretion was observed in autism, both at daytime, nighttime, and during 24h collection. Nocturnal excretion of melatonin was negatively correlated with autism severity in the overall level of verbal language, imitative social play, and repetitive use of objects.

http://www.ncbi.nlm.nih.gov/pubmed/?term=Day+and+nighttime+excretion+of+6-sulphatoxymelatonin+in+adolescents+and+young+adults+with+autistic+disorder

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Occurrence and Family Impact of Elopement in Children with Autism Spectrum Disorders

Published November 8, 2015 in Pediatrics

This study assessed parent-reported elopement occurrence and associated factors among children with Autism Spectrum Disorders (ASD)s.

http://www.ncbi.nlm.nih.gov/pubmed/

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Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum Disorders

Published October 8, 2015 in Research in Developmental Disabilities

The results indicate that quality of sleep, especially sleep duration, may be related to problems with day-time cognitive and adaptive functioning in children with autism and PDD-NOS.

http://www.ncbi.nlm.nih.gov/pubmed/?term=Sleep+disruption+as+a+correlate+to+cognitive+and+adaptive+behavior+problems+in+autism+spectrum+disorders

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Effects of a Brief Early Start Denver Model (ESDM)-Based Parent Intervention on Toddlers at Risk for Autism Spectrum Disorders: A Randomized Controlled Trial

Published October 8, 2015 in J Am Acad Child Adolesc Psychiatry

This study was carried out to examine the efficacy of a 12-week, low-intensity, parent-delivered intervention for toddlers at risk for autism spectrum disorders (ASD) aged 14 to 24 months and their families.

http://www.ncbi.nlm.nih.gov/pubmed/

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Caregiver Burden as People with Autism Spectrum Disorder and Attention-Deficit / Hyperactivity Disorder Transition into Adolescence and Adulthood in the United Kingdom

Published September 8, 2015 in J Am Acad Child Adolesc Psychiatry

This study conducted an observational study of 192 families caring for a young person (aged 14 to 24 years) with a childhood diagnosis of ASD or ADHD (n = 101 and n = 91, respectively) in the United Kingdom. A modified stress-appraisal model was used to investigate the correlates of caregiver burden as a function of family background (parental education), primary stressors (symptoms), primary appraisal (need), and resources (use of services).

http://www.ncbi.nlm.nih.gov/pubmed/

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A Systematic Review of Vocational Interventions for Young Adults with Autism Spectrum Disorders

Published September 8, 2015 in Pediatrics

This study systematically reviewed evidence regarding vocational interventions for individuals with Autism Spectrum Disorder (ASD) between the ages of 13 and 30 years.

http://www.ncbi.nlm.nih.gov/pubmed/

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Melatonin for Sleep in Children with Autism: A Controlled Trial Examining Dose, Tolerability, and Outcomes

Published August 8, 2015 in J Autism Dev Disord

Supplemental melatonin has shown promise in treating sleep onset insomnia in children with autism spectrum disorders (ASD).

http://www.ncbi.nlm.nih.gov/pubmed/

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Teacher-Implemented Joint Attention Intervention: Pilot Randomized Controlled Study for Preschoolers with Autism

Published August 8, 2015 in J Consult Clin Psychol

This study investigated the effectiveness of public preschool teachers implementing a validated intervention (the Joint Attention and Symbolic Play/Engagement and Regulation intervention; JASP/ER) on a core deficit of autism, initiating joint attention.

http://www.ncbi.nlm.nih.gov/pubmed/

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Tipping the Balance of Autism Risk: Potential Mechanisms Linking Pesticides and Autism

Published July 8, 2015 in Environmental Health Perspectives

On the basis of experimental and observational research, certain pesticides may be capable of inducing core features of autism, but little is known about the timing or dose, or which of various mechanisms is sufficient to induce this condition.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404662/

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Prefrontal Neuromodulation Using rTMS Improves Error Monitoring and Correction Function in Autism

Published June 8, 2015 in Appl Psychophysiol Biofeedback

The goal of this study was to investigate whether reaction time, error rate, post-error reaction time change, error related negativity, and error related positivity will show positive changes following 12-week long slow frequency repetitive Transcranial Magnetic Stimulation(rTMS) over dorsolateral prefrontal cortex (DLPFC) in high functioning children with ASD.

http://www.ncbi.nlm.nih.gov/pubmed/

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Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow Up of the 1980s Utah/UCLA Autism Epidemiologic Study

Published May 8, 2015 in J Autism Dev Disord

This study’s purpose was to investigate mortality among individuals with Autism Spectrum Disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls.

http://www.ncbi.nlm.nih.gov/pubmed/

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Advancing Maternal Age is Associated with an Increasing Risk for Autism: A Review and Meta-Analysis

Published May 8, 2015 in Journal of the American Academy of Child & Adolescent Psychiatry

The results of this meta-analysis support an association between advancing maternal age and risk of autism. The association persisted after the effects of paternal age and other potential confounders had been considered, supporting an independent relation between higher maternal age and autism.

http://www.sciencedirect.com/science/article/pii/S089085671200144X

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Maternal Metabolic Conditions and Risk for Autism and other Neurodevelopmental Disorders

Published May 8, 2015 in Pediatrics

Maternal metabolic conditions may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.

http://www.ncbi.nlm.nih.gov/pubmed/22492772

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Service and Wider Societal Costs of Very Young Children with Autism in the UK

Published May 8, 2015 in J Autism Dev Disord

This study describes the services used by 152 children aged 24-60 months with autism, report family out-of-pocket expenses and productivity losses, and explore the relationship between family characteristics and costs.

http://www.ncbi.nlm.nih.gov/pubmed/22089166

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The Effect of Levetiracetam on Focal Nocturnal Epileptiform Activity During Sleep-A Placebo-Controlled Double-Blind Cross-Over Study

Published May 8, 2015 in Epilepsy Behav

This study was designed to assess AED effect in a placebo-controlled double-blind cross-over study. Levetiracetam (LEV) was chosen based on clinical evidence.

http://www.ncbi.nlm.nih.gov/pubmed/

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Longitudinal Follow-Up of Children with Autism Receiving Targeted Interventions on Joint Attention and Play

Published May 8, 2015 in J Am Acad Child Adolesc Psychiatry

This study examines the cognitive and language outcomes of children with an autism spectrum disorder (ASD) over a 5-year period after receiving targeted early interventions that focused on joint attention and play skills.

http://www.ncbi.nlm.nih.gov/pubmed/

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ASF Blog: A Rapidly Moving Field: Recent Findings in Infant and Toddler Interventions for ASD

Published May 7, 2015 in Autism Science Foundation

ASF Postdoctoral Fellow Jessica Bradshaw answers questions about infants with ASD: How do we know when to intervene? What are the best treatments? And do they work?

https://autismsciencefoundation.wordpress.com/2015/05/07/a-rapidly-moving-field-recent-findings-in-infant-and-toddler-interventions-for-asd-2/

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A New Business Model For Autism

Published May 5, 2015 in Forbes

April 2nd, 2015 was designated World Autism Awareness Day, celebrated with ribbons, fundraisers, and blue lights displayed in cities around the world. However, for parents of children with autism, everyday is Autism Awareness Day.

http://www.forbes.com/sites/robertszczerba/2015/05/05/a-new-business-model-for-autism/

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Diagnostic Stability in Young Children at Risk for ASD: A Baby Siblings Research Consortium Study

Published April 29, 2015 in Journal of Child Psychology and Psychiatry

While stability of an autism diagnosis is high at 18 months, symptoms emerge and evolve over time and many may not be reach a diagnostic threshold until 3 years. Therefore, concerned parents need to continue screening and evaluations through 3 years of age. A new baby siblings research consortium study examined the stability of diagnosis in over 400 at-risk infants.

http://www.ncbi.nlm.nih.gov/pubmed/25921776

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Girls Diagnosed with Autism Later than Boys

Published April 28, 2015 in CBS News

A new study from the Kennedy Krieger Institute in Baltimore indicates that generally girls are getting diagnosed with autism at a later age than boys, perhaps because they exhibit different and less severe symptoms. The study is based on data from the Institute’s Interactive Autism Network, an online registry of almost 50,000 individuals and their families affected by autism. In the registry, age of first diagnosis was available for 9,932 children, and 5,103 had completed the Social Responsiveness Scale, which identifies the presence and severity of social impairment.

http://www.cbsnews.com/news/girls-diagnosed-with-autism-later-than-boys/

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ASF Podcast: New Research on the Source and Mechanism of Gene/Environment Interactions

Published April 20, 2015 in Autism Science Foundation

Two separate studies published last week independently add to the body of evidence showing that genes and environment, together, are important to study risk factors in autism. The first is a study looking at the risk of autism in mothers who had diabetes and the other is an analysis of epigenetic markers from dads of kids with autism. While they tackle two different angles, they have a common thread: factors or mechanisms of the combined effects of genes/environment in ASD.

https://www.youtube.com/watch?v=SONf7Vca7gc

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The Most Promising Areas of Autism Research

Published April 16, 2015 in CBS News

Researchers have been making tremendous progress in their efforts to understand the causes of autism, as well as which interventions may be most effective to help children with the disorder thrive.This work is especially critical as the number of children in the U.S. with autism grows. Approximately 1 in 68 children in the U.S. currently has autism, an increase of nearly 30 percent in recent years — at least partly due to greater awareness and improved diagnostics.

http://www.cbsnews.com/news/autism-the-most-promising-research/

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Doctors Often Ignore Parents’ Concerns About Autism in Young Kids

Published April 15, 2015 in HealthDay

Delays in diagnosing and treating autism often occur when doctors ignore parents’ concerns about their child’s early development, a new study suggests.A team led by Dr. Katharine Zuckerman, of Oregon Health and Science University in Portland, compared the medical records of more than 1,400 children with autism against those of 2,100 children with other forms of delayed intellectual development.

http://consumer.healthday.com/cognitive-health-information-26/autism-news-51/too-often-doctors-ignore-parents-concerns-of-autism-in-young-kids-study-698386.html

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A Novel Approach of Homozygous Haplotype Sharing Identifies Candidate Genes in Autism Spectrum Disorder

Published April 8, 2015 in Human Genetics

A large scale analysis identifies candidate genes which may contain low-frequency recessive variations contributing to ASD

http://www.ncbi.nlm.nih.gov/pubmed/?term=A+novel+approach+of+homozygous+haplotype+sharing+identifies+candidate+genes+in+autism+spectrum+disorder

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Group Cognitive Behavior Therapy for Children with High-Functioning Autism Spectrum Disorders and Anxiety: A Randomized Trial

Published April 8, 2015 in J Child Psychol Psychiatry

Fifty children with high-functioning Autism Spectrum Disorder (ASD) and anxiety were randomized to group Cognitive Behavioral Theory (CBT) or treatment-as-usual (TAU) for 12 weeks.

http://www.ncbi.nlm.nih.gov/pubmed/22435114

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Making the Connection: Randomized Controlled Trial of Social Skills at School for Children with Autism Spectrum Disorders

Published April 8, 2015 in J Child Psychol Psychiatry

This study compared two interventions for improving the social skills of high functioning children with autism spectrum disorders in general education classrooms. One intervention involved a peer-mediated approach (PEER) and the other involved a child-assisted approach (CHILD).

http://www.ncbi.nlm.nih.gov/pubmed/

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ASF Blog Post: Confused About the New Autism Risk Findings and IVF? A New Blog Talks to an Expert for Interpretation

Published March 30, 2015 in Autism Science Foundation

Read the full post at www.autismsciencefoundation.wordpress.com.

https://autismsciencefoundation.wordpress.com/2015/03/30/confused-about-the-new-autism-risk-findings-and-ivf/

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The Next Chapter in the Arbaclofen Story: New Findings from Animal Studies

Published March 27, 2015 in Autism Science Foundation

Jill Silverman from UC Davis reports on pre-clinical research findings that may lead to a reconsideration of the arbaclofen trial that was discontinued a few years ago.

https://youtu.be/aIdAThkG_7Q

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Omega 3 Fatty Acids Not Effective for Treating Symptoms of ASD

Published March 21, 2015 in Molecular Autism

Previous studies have shown an improvement in ASD related behaviors following administration of omega-3 fatty acid supplementation which have all failed to reach statistical significance. There has also bee conflicting data on the potential therapeutic effects of omega-3 fatty acids in ASD and unanswered questions about the timing of treatment. However a recent study published in Molecular Autism utilizing a randomized controlled trial design in preschool children reported no improvements in behavior, in fact, the omega-3 treatment group showed some worsening in externalizing behaviors over the study.

http://www.molecularautism.com/content/6/1/18

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Neuronal Connectivity as a Convergent Target of Gene-environment Interactions that Confer Risk for Autism Spectrum Disorders

Published March 8, 2015 in Neurotoxicology and Teratology

This review briefly summarizes the evidence implicating dysfunctional signaling via Ca2 +-dependent mechanisms, extracellular signal-regulated kinases (ERK)/phosphatidylinositol-3-kinases (PI3K) and neuroliginneurexinSHANK as convergent molecular mechanisms in ASD, and then discusses examples of environmental chemicals for which there is emerging evidence of their potential to interfere with normal neuronal connectivity via perturbation of these signaling pathways.

http://www.sciencedirect.com/science/article/pii/S0892036212001778

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Design and Subject Characteristics in The Federally-Funded Citalopram Trial in Children with Pervasive Developmental Disorders

Published March 8, 2015 in J Autism Dev Disord

This study conducted a randomized trial with citalopram (an anti-depressant drug) in children with Pervasive developmental disorders (PDDs).

http://www.ncbi.nlm.nih.gov/pubmed/

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A Double-Blind Placebo-Controlled Trial of Fluoxetine for Repetitive Behaviors and Global Severity in Adult Autism Spectrum Disorders

Published March 8, 2015 in Am J Psychiatry

The effects of fluoxetine and placebo on repetitive behaviors and global severity were compared in adults with autism spectrum disorders (ASDs).

http://www.ncbi.nlm.nih.gov/pubmed/

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New Publication Clears Up Confusion Around Different Brands of Early Intervention

Published March 4, 2015 in Journal of Autism and Developmental Disorders

A new paper brings together a group of autism researchers representing a range of views and diverse disciplines in order to develop a consensus statement regarding the empirical and theoretical bases of Natural Developmental Behavioral Interventions (NDBI). These are behavioral interventions that utilize applied behavioral analysis (ABA) approaches through naturalistic settings. ABA is oftentimes wrongly equated with a specific method, like discrete trial training rather than being understood as an umbrella of empirically based practices. In NDBIs, the ABA approach is presented in settings such as play and daily routines and use child directed strategies. The goal of this new paper was to describe the influences of both behavioral psychology and developmental science on the evolution of early intervention for ASD and their influence on effective, evidence-based NDBIs. The paper also evaluates various NDBIs available for young children with ASD, examining the historical context in which they have been developed, common characteristics of established, evidence-based NDBIs, and requisite features of NDBIs. Because this type of intervention has a strong research base, the demonstrated efficacy of this type of intervention needs to be shared with the research community and the public sector. It summarizes the work of many researchers, working in parallel in different locations and publishing independently on a wide range of NBDI approaches. The effectiveness of this wide range of approaches may not yet be known to parents, clinicians, physicians and funding agencies. It acknowledges a common nomenclature should be adopted rather than having differently named protocols which may confuse the public, including insurance organizations, health care providers, and parents.

http://www.ncbi.nlm.nih.gov/pubmed/25737021

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Examination of the Safety of Pediatric Vaccine Schedules in a Non-Human Primate Model

Published February 20, 2015 in Environmental Health Perspectives

On Friday, the most comprehensive non-human primate study to date which examined the safety of the current vaccine schedule on neurodevelopment, social behavior and cognition were published in Environmental Health Perspectives. The authors conclude that there was no evidence of effects of vaccines on any of these outcomes.

http://ehp.niehs.nih.gov/wp-content/uploads/advpub/2015/2/ehp.1408257.acco.pdf

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Researchers Map the Human Epigenome

Published February 18, 2015 in National Institutes of Health

Much like mapping the human genome laid the foundations for understanding the genetic basis of human health, new maps of the human epigenome may further unravel the complex links between DNA and disease. The epigenome is part of the machinery that helps direct how genes are turned off and on in different types of cells. Epigenetic markers are just beginning to be understood in Alzheimers and cancer, with more work needed in autism spectrum disorders. Now that the epigenome has been mapped in over 100 cell types, this data can be used to better understand ASD.

http://www.nature.com/nature/journal/v518/n7539/full/518314a.html

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Effects of Risperidone and Parent Training on Adaptive Functioning in Children with Pervasive Developmental Disorders and Serious Behavioral Problems

Published February 8, 2015 in J Am Acad Child Adolesc Psychiatry

Children with Pervasive Developmental Disorders (PDDs) have social interaction deficits, delayed communication, and repetitive behaviors as well as impairments in adaptive functioning. Many children actually show a decline in adaptive skills compared with age mates over time.

http://www.ncbi.nlm.nih.gov/pubmed/

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Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays?

Published January 8, 2015 in Journal of Autism and Developmental Disorders

Though neither ASD nor DD was associated with influenza, both were associated with maternal fever during pregnancy. However, the fever-associated ASD risk was attenuated among mothers who reported taking antipyretic medications but remained elevated for those who did not.

Is maternal influenza or fever during pregnancy associated with autism or developmental delays?

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Pivotal Response Treatment for Infants At-Risk for Autism Spectrum Disorders: A Pilot Study

Published January 8, 2015 in J Autism Dev Disord

In the current study, a developmental adaptation of pivotal response treatment was piloted via a brief parent training model with three infants at-risk for autism.

http://www.ncbi.nlm.nih.gov/pubmed/

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Mindfulness-Based Therapy in Adults with an Autism Spectrum Disorder: A Randomized Controlled Trial

Published January 8, 2015 in Res Dev Disabil

This study examined the effects of a modified Mindfulness-based therapy (MBT) protocol (MBT-AS) in high-functioning adults with ASD.

http://www.ncbi.nlm.nih.gov/pubmed/

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A Randomized Controlled Trial of Preschool-Based Joint Attention Intervention for Children with Autism

Published January 8, 2015 in J Child Psychol Psychiatry

Assess the effects of a preschool-based Joint Attention (JA)-intervention.

http://www.ncbi.nlm.nih.gov/pubmed/

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Transcriptome Analysis Reveals Dysregulation of Innate Immune Response Genes and Neuronal Activity-Dependent Genes in Autism

Published December 10, 2014 in Nature

Using resources from the Autism BrainNet, a new study in brains affected by autism revealed a common factor of activated immune cells. Led by Dr. Dan Arking at Johns Hopkins, the project analyzed dats collected from 72 individuals, both with and without autism The findings compared gene expression across these two groups and from different brain banks. It also utilized a large dataset that contains data on existing autism risk genes. This represents the largest dataset so far in studying gene expression in the brains of autism. Previous studies have been too small to make meaningful conclusions, because of the lack of tissue available. The team, which also included the University of Alabama at Birmingham, saw that in individuals with ASD, a type of immune cell called microglia was always active, with genes for inflammation always being turned on. Arking noted that he did not think that the inflammation itself as the root cause of autism, but that it is the marker of a downstream effect. This type of inflammation is not well understood but it highlights the lack of current understanding about how innate immunity controls neural circuits, Dr. Andrew West, associated professor of neurology at the University of Alabama at Birmingham said.

http://www.nature.com/ncomms/2014/141210/ncomms6748/full/ncomms6748.html

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Future of Autism Genetics Should Learn from its Past

Published December 9, 2014 in Simons Foundation Autism Research Initiative

The results of sequencing studies are helping autism researchers narrow down what genes to look for and where. They can now put forth a statistically sound estimate of the overall genetic contribution of de novo mutations of different categories to autism. However, they still cannot pinpoint the causal mutations for many cases of autism because the genomic background noise remains high.

http://sfari.org/news-and-opinion/viewpoint/2014/future-of-autism-genetics-should-learn-from-its-past

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Snippets of RNA May Reverse Symptoms of Angelman Syndrome

Published December 4, 2014 in Simons Foundation Autism Research Initiative

Small pieces of RNA restore the expression of a key gene missing in Angelman syndrome and offer the promise of a highly specific cure, researchers reported Monday in Nature. Injecting these RNA snippets into the brains of mice missing one copy of this gene, called UBE3A, reverses their memory problems.

http://sfari.org/news-and-opinion/news/2014/snippets-of-rna-may-reverse-symptoms-of-angelman-syndrome

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Using Extended Pedigrees to Identify Novel Autism Apectrum Disorder (ASD) Candidate Genes

Published November 29, 2014 in Human Genetics

Copy number variations are known to play a role in autism spectrum disorders. In a novel approach to study CNVs that may be present in family members, scientists look at genes in multiple generations of families affected with or without ASD as well as other psychiatric disorders. In one family, a part of chromosome 11 jumped out as being important for autism and what is known as the broader autism phenotype. (This is when a person does not have a diagnosis but meets some of the criteria for ASD.) This region contains genes for mitochondrial function and detoxification, but was found in the only family where the specific mutation was passed on beyond just parent to child. This shows that the genetic risk factors are complex and not even the same within the same family.

http://www.ncbi.nlm.nih.gov/pubmed/25432440

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Massive Sequencing Studies Reveal Key Autism Genes

Published October 29, 2014 in Simons Foundation Autism Research Initiative

Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported in the journal Nature.These 50 high-confidence autism genes may help researchers understand the biological underpinnings of autism. The researchers found these genes by scouring the exomes, the protein-coding regions of the genome, looking for rare genetic glitches unique to people with autism.

http://sfari.org/news-and-opinion/news/2014/massive-sequencing-studies-reveal-key-autism-genes

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Whole-Genome Sequencing Reveals New Types of Autism Risk

Published October 20, 2014 in Simons Foundation Autism Research Initiative

Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequencing analysis. That’s the upshot of preliminary results from three studies presented at the 2014 American Society of Human Genetics Annual Meeting in San Diego. Together, the findings from these new studies show the promise of looking for autism risk in unusual places.

http://sfari.org/news-and-opinion/conference-news/2014/american-society-of-human-genetics-2014/whole-genome-sequencing-reveals-new-types-of-autism-risk

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Sex/Gender Differences and Autism: Setting the Scene for Future Research

Published October 17, 2014 in Journal of the American Academy of Child & Adolescent Psychiatry

A group in the UK conducted an exhaustive literature search surrounding current studies on sex and gender differences and autism spectrum disorders. This literature search grouped studies into four categories, focusing on behavioral features, diagnosis and disparity issues, causes of disparity, and developmental trajectory. These same topics will be discussed on October 29 at the Sex and Gender Differences in ASD science workshop in New York, sponsored by the Autism Science Foundation and Autism Speaks.

http://www.jaacap.com/article/S0890-8567(14)00725-4/abstract

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Siblings of Children with Autism can Show Signs at 18 Months

Published October 14, 2014 in Journal of the American Academy of Child & Adolescent Psychiatry

About 20% of younger siblings of children with Autism Spectrum Disorder (ASD) will develop the condition by age 3. A new study by Yale School of Medicine researchers has found that 57% of these younger siblings who later develop the condition already showed symptoms at age 18 months. Published in the October Journal of the American Academy of Child & Adolescent Psychiatry, this is the first large-scale, multi-site study aimed at identifying specific social-communicative behaviors that distinguish infants with ASD from their typically and atypically developing high-risk peers as early as 18 months of age.

http://www.jaacap.com/article/S0890-8567(14)00692-3/fulltext

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New Mouse Model Mimics Brain Abnormalities in Autism

Published October 6, 2014 in Simons Foundation Autism Research Initiative

Mice with mutations in the autism-linked gene WDFY3 have enlarged brains reminiscent of those seen in some children with autism, finds a study published in Nature Communications. The brain overgrowth begins in the womb, the study found. WDFY3 plays a role in autophagy, a process that rids cells of damaged or unneeded parts. Mouse embryos with two copies of the mutant gene have enlarged brains and an excess of immature neurons that divide faster than usual. They also have misdirected patches of neurons. Similar changes have been observed in people with autism.

http://sfari.org/news-and-opinion/news/2014/new-mouse-model-mimics-brain-abnormalities-in-autism

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Method Reveals Thin Insulation on Neurons in Autism Brains

Published September 24, 2014 in Simons Foundation Autism Research Initiative

There is less myelin in the brains of people with autism than in those of controls, according to a study published in Psychological Medicine. Myelin is an insulating material that allows neurons to fire rapidly. Researchers applied a method that measures myelin in living brains with autism for the first time. The researchers speculate that low myelin explains the weak connectivity observed in the brains of people with autism. Without proper insulation, electrical signals travel slowly along the axons, making it difficult for regions of the brain to coordinate their activity.

http://sfari.org/news-and-opinion/toolbox/2014/method-reveals-thin-insulation-on-neurons-in-autism-brains

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Maternal Intake of Supplemental Iron and Risk for Autism Spectrum Disorders

Published September 22, 2014 in University of California - Davis

Mothers of children with autism are significantly less likely to report taking iron supplements before and during their pregnancies than the mothers of children who are developing normally, a study by researchers with the UC Davis MIND Institute has found. Low iron intake was associated with a five-fold greater risk of autism in the child if the mother was 35 or older at the time of the child’s birth or if she suffered from metabolic conditions such as obesity hypertension or diabetes. The research is the first to examine the relationship between maternal iron intake and having a child with autism spectrum disorder.

http://www.eurekalert.org/pub_releases/2014-09/uoc--moc090914.php

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Infants with Autism Smile Less at 1 Year of Age

Published September 12, 2014 in Simons Foundation Autism Research Initiative

A new study reports that by the time they turn 1, infants who are later diagnosed with autism smile less often than those who do not develop the disorder. That suggests that reduced smiling may be an early risk marker for the disorder. In the study, published in the Journal of Abnormal Child Psychology, researchers examined 22 typically developing infants with no family history of autism and 44 infant siblings of children with the disorder. These so-called baby sibs have an increased risk for autism. In the new study, half of the 44 baby sibs later developed autism. The results of this study are important because clinicians often struggle to identify those baby sibs who will later develop autism versus those who may display autism-like traits but wont develop the disorder.

http://sfari.org/news-and-opinion/blog/2014/infants-with-autism-smile-less-at-1-year-of-age

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Dysregulation of Estrogen Receptor Beta, Aromatase, and ER Co-Activators in the Middle Frontal Gyrus of Autism Spectrum Disorder Subjects

Published September 9, 2014 in Molecular Autism

In a study conducted at the medical college of Georgia, researchers found a reduction in estrogen receptors in the frontal cortex of brains of boys with ASD. They also found a decrease in the expression of an enzyme that regulates hormones in the brain. The researchers suggest that this may be one of the reasons for the sex difference in ASD, but these findings also point to a potential gene/environment interaction in the disorder. One of the drawback of this study, however, is that there were only 13 samples in each group. The reality is that there is a shortage of available brain tissue to study. If you’d like to learn more about brain tissue donation that will further autism research, visit TakesBrains.org.

http://www.molecularautism.com/content/5/1/46

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ASF President Alison Singer on The Leonard Lopate Show

Published September 9, 2014 in The Leonard Lopate Show

Across the country and around the world, children are getting sick and dying from preventable diseasesin part because some parents are choosing not to vaccinate their children. Alison Singer, President of the Autism Science Foundation, and Dr. Amy Middleman, Adolescent Medicine Specialist at the University of Oklahoma’s Health Sciences Center, examine the science behind vaccinations, the return of preventable diseases, and the risks of opting out. Theyre both featured in the PBS NOVA documentary VaccinesCalling The Shots, which airs September 10, at 9 pm, on PBS.

http://www.wnyc.org/story/vaccines/

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Autism Treatment in the First Year of Life: A Pilot Study of Infant Start, a Parent-Implemented Intervention for Symptomatic Infants

Published September 9, 2014 in Journal of Autism and Developmental Disorders

A new study conducted by researchers at the University of California Davis MIND Institute and published in the Journal of Autism and Developmental Disorders suggests that very early intervention can greatly reduce symptoms of autism as children age. The study looked at a 12-week treatment program with seven infants aged 9 to 15 months; researchers followed the children until they were 3 years old. Over time, these children showed fewer symptoms of autism. Although the sample size was small and it was not a randomized study, this study indicates exciting results from this type of intervention.

http://www.autismsciencefoundation.org/sites/default/files/Rogers%20Infant%20Start%20outcome%20paper%20JADD%202014.pdf

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Services for Children with Autism Spectrum Disorder in Three Large Urban School Districts: Perspectives of Parents and Educators.

Published September 5, 2014 in Autism

Researchers from Philadelphia, LA and Rochester addresses issues that is on the mind of every parent of a child with autism: What can I expect when my child with ASD enters school? The group interviewed parents, teachers and administrators in schools and asked them what their greatest challenges were, in hopes of identifying ways to address those problems. Across all three cities and across all the different groups some common themes emerged: first, the analysis identified and documented that there was underlying tension between all the groups. Parents were frustrated with the school system and some of the systems in place. Teachers also expressed frustration with the administrators and the system in general. Also, while need for training was identified, what was surprising was that everyone thought it was needed. Teachers thought it was needed for themselves, for their teachers aids, and even the administrators wanted to get in on the action. Finally, parents, teachers and administrators felt that there needs to be a cultural shift to support the idea of inclusion, rather than exclusion.

http://www.ncbi.nlm.nih.gov/pubmed/25192859

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Method Reveals Relationship Between White, Gray Matter

Published August 27, 2014 in Simons Foundation Autism Research Initiative

A new technique helps researchers trace the nerve fibers that connect brain regions by revealing how the fibers physically relate to curves and folds on the brains surface. The method was described in Medical Image Analysis. The technique examines the relationship between white matter, composed of nerve fibers and support cells, and gray matter, which is largely made of the cell bodies of the neurons the fibers sprout from. Preliminary findings support the theory that autism involves early, hyperconnected and dense brain growth before an abnormal decline, the researchers say.

http://sfari.org/news-and-opinion/toolbox/2014/method-reveals-relationship-between-white-gray-matter

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Large Genetic Deletion Leads to Autism, But Not Always

Published August 21, 2014 in Simons Foundation Autism Research Initiative

To characterize people who carry deletions in 16p11.2 and 15q13.3, genetic regions linked to autism, two studies published this summer looked in detail at dozens of people with either deletion. The studies found that deletions in these regions lead to diverse symptoms that only sometimes include autism. The studies were published in the journals Biological Psychiatry and Genetics in Medicine.

http://sfari.org/news-and-opinion/news/2014/large-genetic-deletion-leads-to-autism-but-not-always

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Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

Published August 21, 2014 in Neuron

As a babys brain develops, there is an explosion of synapses, the connections that allow neurons to send and receive signals. But during childhood and adolescence, the brain needs to start pruning those synapses, limiting their number so different brain areas can develop specific functions and are not overloaded with stimuli.Now a new study suggests that in children with autism, something in the process goes awry, leaving an oversupply of synapses in at least some parts of the brain.

http://www.cell.com/neuron/abstract/S0896-6273(14)00651-5

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Test Measures Children’s Ability to Distinguish Between Faces

Published August 20, 2014 in Simons Foundation Autism Research Initiative

People with autism often have trouble recognizing faces, and tend to avoid looking at others’ eyes. These deficits may contribute to their difficulty picking up on social cues. An adaptation of an adult face recognition test for children will make it easier to chart the development of childrens abilities, researchers say. The new test is described in a study published in Neuropsychologia.

http://sfari.org/news-and-opinion/toolbox/2014/test-measures-childrens-ability-to-distinguish-between-faces

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Age Alters Patterns of Chemical Tags on Sperm DNA

Published August 18, 2014 in Simons Foundation Autism Research Initiative

The configuration of methyl tags that modify DNA in sperm change as men get older, according to a study published PLOS Genetics. These alterations may help explain why children of older fathers are at increased risk for neuropsychiatric disorders such as autism. Researchers at the University of Utah collected sperm from 17 men, once in the 1990s and again in 2008. They found that the distribution of methyl tags, a particular kind of DNA modification, shows relatively consistent changes over time in the sperm. However, the study does not necessarily prove that these altered patterns survive past fertilization or influence the risk of disorders such as autism.

http://sfari.org/news-and-opinion/news/2014/age-alters-patterns-of-chemical-tags-on-sperm-dna

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Positive Affect in Infant Siblings of Children Diagnosed with Autism Spectrum Disorder

Published August 13, 2014 in Journal of Abnormal Child Psychology

In a study published this week, Canadian infant sibs researchers examined very early symptoms in infants at risk for ASD. These are infants who have an older sibling affected with ASD and show a 1/5 recurrence rate. Meaning instead of 1/68, these kids have a 1/5 chance of having ASD. Because they were able to follow them over time, they assessed them carefully as they grew up. In this study, they were focused on smiling and affect. They showed that infants at risk for ASD that went on to get an ASD diagnosis didnt smile as much at 12-18 months of age. This is consistent with previous red flags of no warm joyful smiles but takes it a step farther and shows the duration and number of smiles is fewer in kids with ASD. Researchers are going to use this to improve the early signs and symptoms of autism and develop more targeted interventions for the early stages of ASD.

http://www.ncbi.nlm.nih.gov/pubmed/25117578

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Signaling Imbalance Skews Sensory Responses in Autism Mice

Published August 11, 2014 in Simons Foundation Autism Research Initiative

Mice modeling autism have trouble integrating different kinds of sensory information such as sight, sound and touch. A study published in Neuron reports that an imbalance between signals that calm neurons and those that excite them leads to these sensory problems.

http://sfari.org/news-and-opinion/news/2014/signaling-imbalance-skews-sensory-responses-in-autism-mice

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Language Tool Aims to Measure Children’s Conversation Skills

Published August 6, 2014 in Simons Foundation Autism Research Initiative

A test designed to characterize natural, spontaneous language use in autism shows solid promise in its first trials in typically developing children. The results were published in the Journal of Autism and Developmental Disorders.The researchers assessed the ease of use and reliability of the test in 180 typically developing children in Michigan, ranging in age from 2 to 5 years. They confirmed that the youngest children can do the various tasks on the test and that the codes developed for the test match the skills of the oldest children. The researchers’ goal is to build a baseline of standard scores against which the scores of children with autism or other communication disorders can be compared.

http://sfari.org/news-and-opinion/toolbox/2014/language-tool-aims-to-measure-childrens-conversation-skills

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Tools for Autism Screening Must Vary with Language, Culture

Published August 1, 2014 in Simons Foundation Autism Research Initiative

At its core, autism is the same disorder worldwide. And ideally, it should be possible to identify it consistently and accurately everywhere. But most screening methods for the disorder were developed in the U.K. and U.S., and linguistic and cultural differences can affect their performance elsewhere.

http://sfari.org/news-and-opinion/blog/2014/tools-for-autism-screening-must-vary-with-language-culture

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ASF President Alison Singer on Good Morning America Comments on Research About Kids Moving Off the Spectrum

Published July 31, 2014 in Good Morning America

New research by Cathy Lord and Deborah Fein suggests 10% of kids with autism achieve “optimal outcome.” Autism Science Foundation President Alison Singer speaks about this new research on Good Morning America, saying there’s no miracle cure, and that we need more research so we can discover why certain children are improving so that the same opportunity for improvement can be expanded to more children.

http://abcnews.go.com/GMA/video/research-suggests-parents-move-children-off-autism-24786501

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Expansion of the Clinical Phenotype Associated with Mutations in Activity-Dependent Neuroprotective Protein

Published July 23, 2014 in Journal of Medical Genetics

A new study has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients’ developmental disabilities. Researchers identified a genetic change in a newly recognized autism-associated gene, Activity-Dependent Neuroprotective Protein (ADNP), in a girl with developmental delay. This change in the ADNP gene helps explain the cause of developmental delay in this patient. This same genetic change in ADNP was also found in a boy who was diagnosed with autism.

http://jmg.bmj.com/content/51/9/587

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Autism Study Seeks Brain Tissue Donations

Published July 10, 2014 in MyFoxNY

A lab called Autism BrainNet is collecting brains for study. The belief is that brain tissue study is the key to solving autism. Unlike with Alzheimer’s disease, where literally thousands of brains have been studied, during the last three decades only 100 autism brains have been studied. Four to five brains are donated for research every year. The Autism BrainNet study is looking to triple that number with the hope of answering some of the most basic questions about the disorder. For more information about the program go to: www.takesbrains.org

http://www.myfoxny.com/story/25992430/autism-study-seeks-brain-tissue-donations

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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Published July 7, 2014 in Cell

A variation in the CHD8 gene has a strong likelihood of leading to a type of autism accompanied by digestive problems, a larger head and wide-set eyes, a study in Cell reports. This discovery is part of an emerging approach to studying the underlying mechanisms of autism and what those mean for people with the condition. Many research teams are trying to group subtypes of autism based on genetic profiles. This is the first time researchers have shown a definitive cause of autism from a genetic mutation.

http://www.cell.com/cell/abstract/S0092-8674(14)00749-1

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Senate Passes Autism Bill

Published July 1, 2014 in The Hill

The Senate passed a bill Thursday night that reauthorizes federal support for autism programs. The Autism CARES Act, H.R. 4631, requires the Secretary of Health and Human Services to designate an official to oversee national autism spectrum disorder (ASD) research. It also extends autism education programs through 2019. The House passed the measure by voice vote last month and the Senate agreed to it through a unanimous consent agreement. The bill now heads to President Obamas desk for his signature.

http://thehill.com/blogs/floor-action/senate/214030-senate-passes-autism-bill

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Should We Believe the Centers for Disease Control and Preventions Autism Spectrum Disorder Prevalence Estimates?

Published July 1, 2014 in Autism: The International Journal of Research and Practice

Autism: The International Journal of Research and Practice has published an important and interesting new editorial by Dr. David Mandell and Dr. Luc Lecavalier that challenges the methods the CDC uses to collect and publish autism prevalence data, now at 1 in 68.

http://m.aut.sagepub.com/content/18/5/482.full

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Autism Science Foundation Request for Applications: 2014 Research Enhancement Mini-Grants

Published June 24, 2014 in The Autism Science Foundation

The Autism Science Foundation today released its request for applications for 2014 Research Enhancement Mini-Grants. ASF is inviting applications for grants of up to $5,000 to enable researchers to expand the scope or increase the efficiency of existing grants, or to take advantage of changes or findings that have occurred in or around an existing project that warrant more funding. Applications must be received by September 12, 2014.

http://autismsciencefoundation.org/sites/default/files/2014MiniGrant.pdf

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Neurodevelopmental Disorders and Prenatal Residential Proximity to Agricultural Pesticides

Published June 23, 2014 in University of California-Davis

A study out of the University of California Davis found that women who live near farmland where pesticides are applied are 60 percent more likely to give birth to a child with autism or other developmental delays. In the study, the association was stronger for women exposed during their second or third trimester. The study looked at three categories of pesticides: organophosphates, pyrethroids and carbamates; all three were found to have associations with ASD or other developmental delays.

http://ehp.niehs.nih.gov/1307044/

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Motor Deficits Match Autism Severity

Published June 20, 2014 in Simons Foundation Autism Research Initiative

The severity of core autism symptoms in young children goes hand in hand with the degree of the childrens difficulty with motor tasks, according to a study published in the April issue of the Adapted Physical Activity Quarterly. Early interventions, such as therapies that target social and communicative behavior, may alter autisms course. Building strong motor skills may help children with autism develop better social and communicative skills, especially in physically demanding play, the researchers say.

http://sfari.org/news-and-opinion/in-brief/2014/cognition-and-behavior-motor-deficits-match-autism-severity

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For Flagging Autism Risk, Using Two Tests is Best Option

Published June 20, 2014 in Simons Foundation Autism Research Initiative

The average child with autism is 18 months old before his or her parents first begin to be concerned. Given the importance of early intervention, its crucial that parents and doctors both catch on to the symptoms as soon as possible. A study published in European Child and Adolescent Psychiatry finds that two autism screens are better than one at identifying toddlers who need specialized clinical services. These screens, such as the Modified Checklist for Autism in Toddlers (M-CHAT) and the Early Screening of Autistic Traits (ESAT), are used not to diagnose autism, but rather to identify children who need more specialized attention for example, from a child psychiatrist or a behavioral therapist.

http://sfari.org/news-and-opinion/blog/2014/for-flagging-autism-risk-using-two-tests-is-best-option

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Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder

Published June 18, 2014 in JAMA Psychiatry

Research published in JAMA Psychiatry shows that parents who have a child with autism are about a third less likely to choose to continue having children compared to parents who do not have a child with ASD. In the study, this “reproductive stoppage” did not occur until the child started showing symptoms or received a diagnosis of ASD. This led researchers to conclude that it was a conscious decision to stop having children, rather than another factor such as fertility problems.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1878923

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Reversal of Autism-Like Behaviors and Metabolism in Adult Mice with Single-Dose Antipurinergic Therapy

Published June 17, 2014 in Translational Psychiatry

Researchers at UC San Diego have discovered that suramin, a drug that was originally developed to treat African sleeping sickness, reverses autism-like social behaviors in mice. This study proposes that the social difficulties and metabolism issues found in individuals with ASD could be improved with the use of suramin even in adults. While suramin has not been tested in humans, these findings could direct future research for autism therapies.

http://www.nature.com/tp/journal/v4/n6/full/tp201433a.html

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Costs of Autism Spectrum Disorders in the United Kingdom and the United States

Published June 9, 2014 in JAMA Pediatrics

Having an accurate estimate of the economic cost of autism has many implications for service and system planning. The most recent estimates are almost a decade old and had to rely on many estimates for which there were no good data. Today in JAMA Pediatrics, researchers, including ASF Scientific Advisory Board member Dr. David Mandell, updated older estimates and further expanded our understanding of costs by estimating them for two countries: the United States and the United Kingdom. They also estimated costs separately for children and adults, and for individuals with autism with and without intellectual disability. To estimate costs, researchers reviewed the literature on related studies, conducting a thorough search of studies that estimated direct costs, such as education and service use costs, as well as indirect costs, such as lost wages for family members and the individual with autism. They found that for individuals with autism and intellectual disability, the average lifetime cost was $2.4 million in the US and $2.2 million in the UK. For individuals without intellectual disability, the average cost was $1.4 million in both the US and the UK. For children with autism, the largest costs were for special education and parents lost wages. For adults with autism, the largest costs were residential care and lost wages.

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Elevated Fetal Steroidogenic Activity in Autism

Published June 3, 2014 in Molecular Psychiatry

Researchers at the University of Cambridge have found that children who later develop autism are exposed to heightened levels of steroid hormones (such as testosterone, progesterone and cortisol) in the womb. This finding may be related to the fact that autism affects males more than females.

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201448a.html

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Large Study Underscores Role of Gene Copy Number in Autism

Published June 2, 2014 in Simons Foundation Autism Research Initiative

People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published in the American Journal of Human Genetics. Previous studies have shown that people with autism have more large deletions or duplications of DNA, also known as copy number variations (CNVs), than controls do. The new study, the largest to look at CNVs in people with autism thus far, confirms this finding. It also found that in people with autism, the CNVs are more likely to affect genes linked to intellectual disability and fragile X syndrome.

http://sfari.org/news-and-opinion/news/2014/large-study-underscores-role-of-gene-copy-number-in-autism

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Icahn School of Medicine at Mount Sinai Joins Autism BrainNet Tissue Bank

Published May 29, 2014 in Newswise

The Icahn School of Medicine at Mount Sinai has joined Autism BrainNet, a new network of research institutions created to collect, store and distribute postmortem brain tissue resources that will help scientists gain a deeper understanding of the causes, treatment and cure of autism spectrum disorder, which now affects an estimated one in 68 children. Launched by the Simons Foundation and Autism Speaks, Autism BrainNet recently joined with the Autism Science Foundation to unveil the Autism BrainNet registration site, It Takes Brains (www.TakesBrains.org)

http://newswise.com/articles/icahn-school-of-medicine-at-mount-sinai-joins-autism-brainnet-tissue-bank?ret=/articles/list&category=science&page=1&search%5Bstatus%5D=3&search%5Bsort%5D=date+desc&search%5Bsection%5D=20&search%5Bhas_multimedia%5D=

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Takeaways from IMFAR 2014

Published May 22, 2014 in Simons Foundation Autism Research Initiative

Top three takeaways from IMFAR 2014: autism is growing up, the future looks promising, and scientists are getting social.

http://sfari.org/sfari-community/community-blog/2014/takeaways-from-imfar-2014/

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Full Video of Committee on Oversight and Government Reform Hearing: Examining the Federal Response to Autism Spectrum Disorders

Published May 20, 2014

A full video of yesterday’s committee hearing is now available.

http://oversight.house.gov/hearing/examining-federal-response-autism-spectrum-disorders/

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Examining the Federal Response to Autism Spectrum Disorders: Government Oversight Committee Meets Today

Published May 20, 2014

Today at 9:00am the Committee on Oversight and Government Reform meets for a hearing entitled “Examining the Federal Response to Autism Spectrum Disorders”. A live stream of the hearing is available at http://oversight.house.gov/hearing/examining-federal-response-autism-spectrum-disorders

http://oversight.house.gov/hearing/examining-federal-response-autism-spectrum-disorders/#

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School in Upstate NY Saves Autistic Queens Man from Troubled Life

Published May 19, 2014 in NY Daily News

A great story featuring the Center for Discovery, and including a picture of ASF President Alison Singer’s daughter, Jodie.

http://www.nydailynews.com/new-york/education/prom-shows-austistic-man-article-1.1798625

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It Takes Brains: Autism BrainNet registration site launches

Published May 16, 2014 in Medical Xpress

The Simons Foundation, Autism Speaks and the Autism Science Foundation today announced the launch of the Autism BrainNet registration site, It Takes Brains (www.takesbrains.org). Autism BrainNet is a consortium of academic sites funded collaboratively by the Simons Foundation and Autism Speaks to collect, store and distribute brain tissue resources necessary for researchers to understand the underlying neurobiology and genetics of autism.

http://medicalxpress.com/news/2014-05-brains-autism-brainnet-registration-site.html

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Tuberous Sclerosis, Fragile X Share immune Changes

Published May 6, 2014 in Simons Foundation Autism Research Initiative

Two autism-related disorders fragile X syndrome and tuberous sclerosis complex share disruptions in the immune system despite major differences in the individual genes affected, reports a study in Molecular Autism. An abnormally regulated immune system is linked to some forms of autism, but exactly how genetic changes in the immune system contribute to autism is unclear.

http://sfari.org/news-and-opinion/in-brief/2014/genetics-tuberous-sclerosis-fragile-x-share-immune-changes

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Mothers of Children with Autism Share Their Sensory Problems

Published May 2, 2014 in Simons Foundation Autism Research Initiative

A small study published 3 April in Molecular Autism found that 98 percent of mothers of children with autism have unusual responses to sensory stimuli, including light, sound and touch. Up to 90 percent of children with autism show sensory problems, fixating on or avoiding certain smells, sounds or textures. As a result, the newest edition of the Diagnostic and Statistical Manual of Mental Disorders lists abnormal sensitivity in one or more of the five senses as a core diagnostic feature of autism. Its unclear whether genetics contributes to these sensory patterns, but a larger study examining the relationship between unusual sensory response, autism traits and additional disorders in family members may clarify the link.

https://sfari.org/news-and-opinion/blog/2014/mothers-of-children-with-autism-share-their-sensory-problems

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Release of 2013 IACC Strategic Plan Update

Published May 1, 2014 in IACC

The 2013 Strategic Plan Update provides an accounting and overview of the funding and scientific progress in the autism field since the release of the first IACC Strategic Plan in 2009. The 2013 Update describes recent advances in the scientific understanding of ASD, provides information on the progress of each of the 78 IACC Strategic Plan objectives, highlights areas of need and opportunity, and identifies overarching themes that will be important for future advancement of ASD research. In this final version, you will find a single, streamlined table for each Strategic Plan Question that displays both cumulative 5-year funding and notes regarding progress of each objective, which we thought would be helpful to readers.

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Autism: What We Know. What is Next?

Published May 1, 2014 in Simons Foundation Autism Research Initiative

This project begins a conversation concerning what we know and what we need to learn about autism and related developmental disorders. SFARIs chief scientist, Gerald Fischbach, wrote the original draft, with the intent of providing an outline of recent research advances and suggestions about next steps. The document incorporates several different methodologies, ranging from molecular biology to behavior, in hopes of building bridges between them. We hope it will serve as a valuable resource for experts in autism research and also as a helpful guide for those just entering the field.Neither the claims about what we know nor the questions raised are complete lists. Autism research is advancing rapidly. In our hopes that What we know will become a living document, we invite you to suggest additions, deletions, corrections or wholesale rearrangements. Please email your comments to WWK@sfari.org. And please check back for future iterations of this document as it expands and evolves.

http://sfari.org/resources/what-we-know/autism-what-we-know-what-is-next/?utm_source=Autism+research+news+from+SFARI.org&utm_campaign=31031fe875-SFARI_WhatWeKnow2014&utm_medium=email&utm_term=0_0a60ccb345-31031fe875-388511933

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The cost-effectiveness of supported employment for adults with autism in the United Kingdom

Published April 29, 2014 in Autism: the international journal of research and practice

"Adults with autism face high rates of unemployment. Supported employment enables individuals with autism to secure and maintain a paid job in a regular work environment. The objective of this study was to assess the cost-effectiveness of supported employment compared with standard care (day services) for adults with autism in the United Kingdom. The analysis […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=24126866

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Risperidone Use in Children with Autism Carries Heavy Risks

Published April 28, 2014 in Simons Foundation Autism Research Initiative

Risperidone, the first drug approved for children with autism and the most widely used, improves some childrens behavior but can have severe side effects, suggests an informal analysis of the drugs use. These side effects can include weight gain, drowsiness, hormonal changes and, in rare cases, involuntary movements.

http://sfari.org/news-and-opinion/news/2014/risperidone-use-in-children-with-autism-carries-heavy-risks

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SFARI’s Wendy Chung at TED2014: What We Know About Autism

Published April 28, 2014 in Simons Foundation Autism Research Initiative

Simons Foundation Autism Research Initiative director of clinical research, Wendy Chung, addressed the TED2014 Conference in Vancouver, Canada, on March 18, delivering a speech called What We Know About Autism. The speech, geared toward a lay audience during Autism Awareness Month, is clear, informative and highly accessible, and addresses a host of current questions and concerns in the mind of the public: Is autism an epidemic? Do vaccines cause autism? What is the state of autism science? Are treatments on the horizon?What We Know About Autism ends with a call to action, urging families impacted by autism to join the Interactive Autism Network, an online community of families that provides them with current information on autism resources and scientific advances. IAN also provides families with the opportunity to contribute to research and clinical trials directed by qualified scientists.

http://www.simonsfoundation.org/features/foundation-news/sfaris-wendy-chung-at-ted2014-conference-what-we-know-about-autism/

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FDA: Beware of False or Misleading Claims for Treating Autism

Published April 25, 2014 in FDA

The FDA issued a warning today that several companies are making false or misleading claims about products or therapies that claim to treat or cure autism. The so-called treatments, such as chelation therapy or mineral treatments, carry significant risks, FDA says. Please be aware of the FDA’s warning and follow their tips to help you identify false or misleading claims.

http://www.fda.gov/ForConsumers/ConsumerUpdates/ucm394757.htm

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Published April 24, 2014 in Cell

A substantial proportion of risk for developing autism spectrum disorders (ASD) resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world. The study was published in The American Journal of Human Genetics. The researchers reported numerous copy number variations (CNVS) affecting genes, and found that these genes are part of similar cellular pathways involved in brain development, synapse function and chromatin regulation. Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD.

http://www.cell.com/ajhg/pdf/S0002-9297%2814%2900150-5.pdf

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Repeats in Human DNA may Aggravate Autism Symptoms

Published April 21, 2014 in Simons Foundation Autism Research Initiative

Certain DNA repeats that increased exponentially during human evolution are directly related to the severity of autism symptoms, according to a preliminary study published in PLoS Genetics. The repeats each span 65 amino acids and are collectively referred to as DUF1220, for domain of unknown function. There are six types of these repeats, each with a slightly different sequence and all of which diverged from a common ancestor.

http://sfari.org/news-and-opinion/news/2014/repeats-in-human-dna-may-aggravate-autism-symptoms

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Comparing cognitive outcomes among children with autism spectrum disorders receiving community-based early intervention in one of three placements

Published April 18, 2014 in Autism: the international journal of research and practice

"Little comparative research examines which community-based preschool intervention placements produce the best outcomes for which children with autism spectrum disorders. Autism-specific placements can provide intensive evidence-based care; however, inclusion settings provide interaction with typically developing peers, the importance of which is increasingly recognized. This study examined the association between early intervention placement in three settings […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=23188885

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ASF Video: Five Years of Autism Research

Published April 16, 2014

ASF celebrates its 5th anniversary! Watch to learn about our first five years of searching, solving, and sharing.

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Atypical Cross Talk Between Mentalizing and Mirror Neuron Networks in Autism Spectrum Disorder

Published April 16, 2014 in JAMA Psychiatry

Atypical brain connectivity in areas that affect social interactions have been found in people with autism spectrum disorders. This difference in connectivity is found in networks of the brain that help individuals understand what others are thinking, and to understand others’ actions and emotions. Up until now, it was thought that these areas of the brain were under-connected in people with autism, but this study shows that more often than not, they are actually over-connected. The study also found that the greater the difference in neural connectivity, the more social interactions were impaired.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1860852

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Request for Information (RFI): Impact of DSM-5 Changes to Diagnostic Criteria for Autism Spectrum Disorders (ASD) on Research and Services

Published April 14, 2014 in National Institutes of Health

The NIH is requesting additional input from the scientific community, health professionals, self-advocates and patient advocates about the research implications of recent changes to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) diagnostic criteria for Autism Spectrum Disorders (ASD). Responses will be accepted through May 12, 2014.

http://grants.nih.gov/grants/guide/notice-files/NOT-HD-14-012.html#sthash.19x8MHmh.dpuf

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CDC Releases 2014 Community Report on Autism

Published April 11, 2014 in Centers for Disease Control and Prevention

The CDC has released its 2014 Community Report on Autism, which gives details behind the new 1 in 68 number, as well as additional state-by-state prevalence information.

http://www.cdc.gov/ncbddd/autism/states/comm_report_autism_2014.pdf

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IACC Issues Statement Regarding Implications of Changes in the Diagnostic Criteria for Autism Spectrum Disorder

Published April 2, 2014 in Interagency Autism Coordinating Committee

Today, on World Autism Awareness Day 2014, the Interagency Autism Coordinating Committee (IACC), issued a statement regarding the implications of changes in the diagnostic criteria for ASD that were made in the most recent update of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Of particular interest are the scientific, practice, and policy implications as DSM-5 is implemented in real-world settings, especially with respect to allocation of services.

http://iacc.hhs.gov/news/press_releases/2014/pr_2014_dsm5.shtml

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Hilibrand Autism Symposium: Carving a Place in the World for Young Adults With Autism Spectrum Disorders

Published April 1, 2014 in Hilibrand Autism Symposium

Every adult wants to lead a meaningful life, and individuals with autism spectrum disorders (ASD) are no different. More and more, people with ASD are working, living, and engaging in their communities, and are being recognized for their strengths and talents. Yet the questions still remain: What do young adults with ASD need to transition to being productive members of society whose skills and interests are used and valued? How can professionals, parents, advocates, and others ensure that a place in the world is carved out for these individuals? This conference will present new research and innovative models to spark a dialogue about current challenges and effective solutions to helping adults with ASD obtain and maintain work, social connections, and independence.ASF Scientific Advisory Board Member David Mandell will be giving the keynote address.Tune into the Hilibrand Autism Symposium lifestream today from 9:00am to 4:30pm at http://www.ujafedny.org/autism-symposium/

http://www.ujafedny.org/autism-symposium/

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How to Think About the Risk of Autism

Published March 29, 2014 in New York Times

When it comes to autism prevalence, it can be difficult to separate real risks from false rumors. The topics that gain the most media coverage aren’t always the ones with the greatest affect on autism risk. The risk ratio can give perspective where isolated news stories dont.

http://www.nytimes.com/2014/03/30/opinion/sunday/how-to-think-about-the-risk-of-autism.html

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Patches of Disorganization in the Neocortex of Children with Autism

Published March 26, 2014 in New England Journal of Medicine

New evidence suggests that autism begins in the brain before birth when brain cells fail to develop properly. In this study, the abnormalities in the brain cells were not uniform, showing autism’s wide range of symptoms and severity. This better understanding of prenatal development of the brain cells of people with autism underscores the importance of early identification and intervention.

http://www.nejm.org/doi/full/10.1056/NEJMoa1307491?query=featured_home

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New Technique Finds Mutant Cells in a Haystack

Published March 19, 2014 in Simons Foundation Autism Research Initiative

Researchers have developed a method to isolate a single mutant cell from thousands of others, they reported in the March issue of Nature Methods. The new approach will allow researchers to precisely engineer and study human cells without altering the genome. Ultimately, the method could be used to alter an individuals cells before returning them to his or her body.

http://sfari.org/news-and-opinion/toolbox/2014/new-technique-finds-mutant-cells-in-a-haystack

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Autism Science Foundation Issues Request for Applications: 2014 Undergraduate Summer Research Grants

Published March 17, 2014 in Autism Science Foundation

The Autism Science Foundation invites applications from highly qualified undergraduates interested in pursuing basic and clinical research relevant to autism spectrum disorders during the summer. The proposed research must be scientifically linked to autism or a closely related field. Autism Science Foundation will consider all areas of related basic and clinical research including but not limited to: human behavior across the lifespan (language, learning, communication, social function, epilepsy, sleep, self-injurious behavior, catatonia), neurobiology (anatomy, development, neuro-imaging), pharmacology, neuropathology, human genetics, genomics, epigenetics, epigenomics, immunology, molecular and cellular mechanisms, studies employing model organisms and systems, and studies of treatment and service delivery.

http://autismsciencefoundation.org/apply-undergraduate-summer-research-grant

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Autism Risk Abates in Later-Born Children

Published March 7, 2014 in Simons Foundation Autism Research Initiative

The risk of certain autism spectrum disorders is highest in firstborn children and declines in each additional sibling born to the same mother, reports a large Finnish study published in Paediatric and Perinatal Epidemiology. When the researchers looked at Asperger syndrome, pervasive developmental disordernot otherwise specified (PDD-NOS) and childhood autism, in which symptoms appear before the age of 3, as a group, they found that a diagnosis is most common in firstborns. The latter two conditions are now considered part of the autism diagnosis. When they looked at each diagnosis separately, the researchers found that the firstborn effect holds for Asperger and PDD-NOS, while second-born children are at the highest risk for childhood autism.

http://sfari.org/news-and-opinion/in-brief/2014/clinical-research-autism-risk-abates-in-later-born-children

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Algorithm Uncovers Autism Syndromes’ Fingerprints

Published March 6, 2014 in Simons Foundation Autism Research Initiative

Autism is defined based on a wide variety of behavioral symptoms, but it’s precisely this variation along with a complex genetic background that makes it tricky to connect behavior to the underlying genes. A new algorithm may make this challenge a bit easier to solve. The algorithm, which employs a form of artificial intelligence that learns as it goes, analyzes behavioral data and has learned to recognize six genetic disorders associated with autism, according to research published in Molecular Autism. The researchers hope to use these behavioral signatures to hone their search for the genetic underpinnings of idiopathic autism, for which there is no known cause.

http://sfari.org/news-and-opinion/news/2014/algorithm-uncovers-autism-syndromes-fingerprints

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Studies Try to Pin Down Timing of ‘Early’ Autism Treatment

Published February 27, 2014 in Simons Foundation Autism Research Initiative

Autism researchers and advocates often express concern that the average age of autism diagnosis in the U.S. hovers around 4 years even though most cases of the disorder can be reliably identified by age 2. In this highly contentious field, the need for early diagnosis and early intervention is one of the few areas of agreement. Surprisingly, though, there has been little hard evidence that earlier diagnosis improves the lives of people with autism in the long term. At last, this evidence is becoming available. The field turned toward more rigorous studies a decade or so ago, and many of those studies, focused on children between about 2 and 4 years old, are starting to bear fruit.

http://sfari.org/news-and-opinion/news/2014/studies-try-to-pin-down-timing-of-early-autism-treatment

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A Higher Mutational Burden in Females Supports a Female Protective Model in Neurodevelopmental Disorders

Published February 27, 2014 in American Journal of Human Genetics

Researchers have more clues as to why more boys than girls are diagnosed with Autism Spectrum Disorder. A new study in the American Journal of Human Genetics suggests that for boys, it takes less of a genetic hit to cause autism than it does for girls. The study continues to say that when it does appear in girls, it is due to a much more severe genetic hit, usually resulting in much more severe autism symptoms.

http://www.sciencedirect.com/science/article/pii/S0002929714000597

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‘Resting’ Autism Brains Still Hum with Activity

Published February 21, 2014 in Simons Foundation Autism Research Initiative

Even at rest, the brains of people with autism manage more information than those of their peers, according to a new study that may provide support for the so-called intense world theory of autism. The research, which was published in Frontiers in Neuroinformatics, included nine children with Asperger syndrome, aged between 6 and 14 and ten age-matched typical children. The researchers scanned their brains using magnetoencephalography (MEG), a noninvasive method that doesnt require lying in a noisy, confined space as magnetic resonance imaging does. The results suggest that in the same boring situation, people with autism process more information than their typical peers.

http://sfari.org/news-and-opinion/blog/2014/resting-autism-brains-still-hum-with-activity

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Spatial, Verbal Skills in Autism Even Out with Age

Published February 14, 2014 in Simons Foundation Autism Research Initiative

A rigorous new study confirms that boys with autism tend to score higher on tests of spatial and analytical abilities than on those for verbal skills. But the gap decreases by the time they reach 10 years of age. This suggests that the trait cannot be used to define children with autism or their families, the researchers say. Instead, it may be a pattern of development common in children with autism or other developmental disorders. The report was published in the January issue of the American Journal on Intellectual and Developmental Disabilities.

http://sfari.org/news-and-opinion/blog/2014/spatial-verbal-skills-in-autism-even-out-with-age

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Neurobehavioural Effects of Developmental Toxicity

Published February 14, 2014 in The Lancet

Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children worldwide, and some diagnoses seem to be increasing in frequency. A new study in The Lancet states that industrial chemicals that injure the developing brain are among the known causes for this rise in prevalence. Building on a 2006 study in which researchers identified five industrial chemicals as developmental neurotoxicants (lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene), epidemiological studies have documented six additional developmental neurotoxicants manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. To protect children from exposure to such harmful chemicals, researchers say that untested chemicals should not be presumed to be safe to brain development.

http://www.thelancet.com/journals/lanres/article/PIIS1474-4422(13)70278-3/fulltext

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Epilepsy Drug Alters Rodent Gut

Published February 14, 2014 in Simons Foundation Autism Research Initiative

In utero exposure to the epilepsy drug valproic acid (VPA), which ups the risk of autism, may alter the composition of gut bacteria in rodents, according a study published in Brain Behavior and Immunity. Rats and mice exposed to VPA in utero have social deficits, repetitive behaviors and anxiety, making them a good model for studying autism. It is unclear exactly how VPA exposure leads to these symptoms, however.

http://sfari.org/news-and-opinion/in-brief/2014/cognition-and-behavior-epilepsy-drug-alters-rodent-gut

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Induced Neuron Cell Line Resembles Immature, Healthy Neurons

Published February 12, 2014 in Simons Foundation Autism Research Initiative

A commercially available line of neurons generated from induced stem cells would serve as a good control for autism research, according to a study published in Psychopharmacology. Characterizing these neurons in detail shows that they express most of the genes linked to autism and look like typical, albeit immature, cells. Induced pluripotent stem cells, or iPSCs, are skin or blood cells reverted to a state from which they can become any cell in the body. Researchers can use the technique to turn cells from people with a neuropsychiatric disorder into neurons. They can then compare the neurons with those from controls to gain understanding of the disorder.

https://sfari.org/news-and-opinion/toolbox/2014/induced-neuron-cell-line-resembles-immature-healthy-neurons

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Drug Calms Overly Excitable Brains in Autism Rodent Models

Published February 10, 2014 in Simons Foundation Autism Research Initiative

The blood pressure drug bumetanide normalizes a deficit in brain activity in two rodent models of autism, according to a study published in Science. The study hints at a mechanism underlying the drugs benefits for people with autism. Neurochlore, a company based in Marseilles, France, is testing bumetanide as a treatment for autism. In the first phase, 27 children with autism showed some improvement in their autism symptoms; the researchers are continuing the trial in Europe with more participants.

http://sfari.org/news-and-opinion/news/2014/drug-calms-overly-excitable-brains-in-autism-rodent-models

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Blazing Trails in Brain Science

Published February 3, 2014 in New York Times

Dr. Thomas R. Insels twisted path to his role as director of the National Institute of Mental Health is a tour of where psychiatric science has been, where its going and why.

http://www.nytimes.com/2014/02/04/science/blazing-trails-in-brain-science.html?_r=0

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Blazing Trails in Brain Science

Published February 3, 2014 in New York Times

Dr. Thomas R. Insels twisted path to his role as director of the National Institute of Mental Health is a tour of where psychiatric science has been, where its going and why.

http://www.nytimes.com/2014/02/04/science/blazing-trails-in-brain-science.html?_r=0

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New Diagnostic Category Will Hold Subset of Autism Cases

Published February 3, 2014 in Simons Foundation Autism Research Initiative

Most of the children who would lose their autism diagnosis under the diagnostic criteria released last year will fall under the new category of social (pragmatic) communication disorder (SDC), reports a large study of Korean children. The study was published last week in the American Academy of Child and Adolescent Psychiatry. SCD is a condition that includes severe social and communication deficits but lacks the repetitive behaviors and restricted interests seen in autism.

http://sfari.org/news-and-opinion/news/2014/new-diagnostic-category-will-hold-subset-of-autism-cases

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Effects of a Self-Monitoring Device on Socially Relevant Behaviors in Adolescents with Asperger Disorder: A Pilot Study

Published January 22, 2014 in Assistive Technology

This article reports the results of two case studies. Two middle school-aged participants with high-functioning autism spectrum disorders were taught to self-monitor behaviors impacting their social acceptance by peers in their general education settings: oral self-stimulatory behaviors and conversation skills. Results indicate that the intervention was effective to some degree with both participants. As a result of the self-monitoring intervention, one participant decreased self-stimulatory behaviors; however, his data were highly variable throughout the study though lower on average during intervention than in baseline. The other participant’s targeted skills in communication were only slightly improved. Self-monitoring using a vibrating reminder appears to be a low-cost intervention with high levels of social acceptability, low training requirements for teachers or students, and no social stigma.

http://www.ncbi.nlm.nih.gov/pubmed/24020153

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Adults with Autism Can’t Discern False Emotions

Published January 17, 2014 in Simons Foundation Autism Research Initiative

Adults with autism usually understand in theory when and why others may feign emotions, but they dont recognize those expressions in real-life situations, reports a study published in Autism Research. This inability to guess what triggered someones subtle expression can lead to social missteps congratulating instead of consoling a disappointed friend, for example.

http://sfari.org/news-and-opinion/blog/2014/adults-with-autism-cant-discern-false-emotions

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Senses of Sight and Sound Separated in Children with Autism

Published January 14, 2014 in Vanderbilt University

Like watching a foreign movie that was badly dubbed, children with autism spectrum disorders (ASD) have trouble integrating simultaneous information from their eyes and their ears, according to a Vanderbilt study. The study, led by Mark Wallace, Ph.D., director of the Vanderbilt Brain Institute, is the first to illustrate the link and strongly suggests that deficits in the sensory building blocks for language and communication can ultimately hamper social and communication skills in children with autism.

http://news.vanderbilt.edu/2014/01/senses-of-sight-and-sound-separated-in-children-with-autism/

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Lack of Training Begets Autism Diagnosis Bottleneck

Published January 13, 2014 in Simons Foundation Autism Research Institute

One of the frustrations that parents of children with autism most commonly voice is the long wait for a diagnosis. In the meantime, the children grow up and out of the critical period for early intervention. The scenario for adults seeking an autism diagnosis is even grimmer, as there are fewer practitioners experienced in caring for adults with autism than in caring for children with the disorder. There are few comprehensive statistics about waiting times, but the bottlenecks in access to autism diagnosis and care are widely acknowledged. These concerns are spurring the medical community to take a hard look at the failings of professional training in contributing to the problem.

http://sfari.org/news-and-opinion/news/2014/lack-of-training-begets-autism-diagnosis-bottleneck

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Reward Affects Motor Function in Rett

Published January 10, 2014 in Simons Foundation Autism Research Institute

The motor problems seen in Rett syndrome may be the result of deficits in a pathway that mediates reward in the striatum, a brain region that coordinates movement, according to a study published in Brain Structure and Function. Studies have shown that loss of MeCP2 in the front of the brain is sufficient to lead to Rett-like symptoms in mice. The forebrain includes the striatum, which integrates information from other brain regions to help plan and coordinate movement. The new study found that mice that model Rett syndrome have significantly less dopamine a chemical messenger that mediates reward in the striatum than controls do. The study suggests that changes in dopamine levels influence neural circuits in the striatum that regulate motor function.

http://sfari.org/news-and-opinion/in-brief/2014/molecular-mechanisms-reward-affects-motor-function-in-rett

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Catalog of Symptoms Aims to Unravel Autism Diversity

Published January 8, 2014 in Simons Foundation Autism Research Initiative

Researchers have standardized labels for nearly 300 traits of autism, drawn from 24 diagnostic tests for the disorder, they reported in Neuroinformatics. They can use these terms to search for certain traits among large catalogs of the genetics and symptoms of people with autism. The new study aims to build a defined list, or ontology, of the traits these tests assess. The goal is to allow researchers to compare results across different diagnostic tests and identify the same features, regardless of the test used. The new tool can also help classify individuals with autism into subgroups, which may reflect different causes of the disorder.

http://sfari.org/news-and-opinion/toolbox/2014/catalog-of-symptoms-aims-to-unravel-autism-diversity

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Duplication of Chromosome 22 Region Thwarts Schizophrenia

Published January 2, 2014 in Simons Foundation Autism Research Institute

Carrying a duplication of the 22q11.2 chromosomal region may protect against schizophrenia, suggests a study published 12 November in Molecular Psychiatry. This is the first evidence of a genetic region that lowers the risk of a disorder rather than increases it. Deletion of this part of chromosome 22 is the strongest known risk factor for schizophrenia, and is also linked to autism, attention deficit hyperactivity disorder and anxiety in childhood. Various other copy number variations (CNVs), or stretches of a chromosome that are deleted or duplicated multiple times in the genome, have been linked to schizophrenia, autism and other neurological conditions. The new study is the first to pinpoint a CNV that lowers the risk of a disorder, however.

http://sfari.org/news-and-opinion/news/2014/duplication-of-chromosome-22-region-thwarts-schizophrenia

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Maternal Infection During Pregnancy and Autism Spectrum Disorders

Published January 1, 2014 in Journal of Autism and Developmental Disorders

Pregnant women who were diagnosed with a bacterial infection during a hospital visit were more likely to have their child be diagnosed with autism spectrum disorder, a study in the Journal of Autism and Developmental Disorders reports. “Multiple maternal infections and bacterial infections occurring during late pregnancy, particularly those diagnosed in a hospital setting, were associated with a higher risk of autism,” the researchers reported.

http://link.springer.com/article/10.1007/s10803-013-2016-3

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Long Neglected, Severe Cases of Autism Get Some Attention

Published December 30, 2013 in Simons Foundation Autism Research Institute

Next February, researchers plan to begin work on a $1.2 million project that aims to link specialized psychiatric units across the U.S. to investigate the most severe and challenging autism cases. The study will include the six largest of the nine specialized psychiatric hospital programs for autism in the U.S. About 1,000 individuals with autism, aged 4 to 20, typically spend between 20 and 25 days at a time in these programs. We think this is an area we can contribute [to], says lead investigator Matthew Siegel, medical director of the developmental disorders program of Spring Harbor Hospital in Maine. If not us, who? We have the expert clinicians and see hundreds of these kids.

December 19, 2013

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Oxytocin enhances brain function in children with autism

Published December 24, 2013 in Proceedings of the National Academy of Sciences

"Following intranasal administration of oxytocin (OT), we measured, via functional MRI, changes in brain activity during judgments of socially (Eyes) and nonsocially (Vehicles) meaningful pictures in 17 children with high-functioning autism spectrum disorder (ASD). OT increased activity in the striatum, the middle frontal gyrus, the medial prefrontal cortex, the right orbitofrontal cortex, and the left […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=24297883

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Sticky Gaze May Be Early Autism Sign

Published December 20, 2013 in Simons Foundation Autism Research Institute

Babies later diagnosed with autism tend to stare at objects after picking them up, a behavior known as sticky gaze, at much later ages than controls do, according to a study published in Behavioral Brain Research. This delay may contribute to problems with joint attention the tendency to seek out and follow others gaze in autism, the researchers say.

http://sfari.org/news-and-opinion/in-brief/2013/cognition-and-behavior-sticky-gaze-may-be-early-autism-sign

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Use of Selective Serotonin Reuptake Inhibitors during Pregnancy and Risk of Autism

Published December 19, 2013 in New England Journal of Medicine

In the past, studies have raised concern about an association between the use of a certain type of antidepressant known as selective serotonin reuptake inhibitors (SSRIs) during pregnancy and an increased risk of autism spectrum disorders in the child. A new study now shows no significant association between maternal use of SSRIs during pregnancy and autism spectrum disorder in the child. However, the children were at a higher than usual risk of being diagnosed with autism if their mother had taken the drugs for depression or anxiety prior to the pregnancy, suggesting a possible link between the mother’s preexisting mental health condition and the child’s development of an ASD.

http://www.nejm.org/doi/full/10.1056/NEJMoa1301449

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Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders

Published December 19, 2013 in Cell

Neurodevelopmental disorders, including autism spectrum disorder (ASD), are defined by core behavioral impairments; however, subsets of individuals display a spectrum of gastrointestinal (GI) abnormalities. We demonstrate GI barrier defects and microbiota alterations in the maternal immune activation (MIA) mouse model that is known to display features of ASD. UItimately, these findings support a gut-microbiome-brain connection […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=24315484

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Brain Changes Precede Schizophrenia and Autism

Published December 18, 2013 in Nature

People who carry high-risk genetic variants for schizophrenia and autism have impairments reminiscent of disorders such as dyslexia, even when they do not yet have a mental illness, a new study has found. Researchers report that people with these copy number variants (CNVs) but no diagnosis of autism or a mental illness still show subtle brain changes and impairments in cognitive function. The findings offer a window into the brain changes that precede severe mental illness and hold promise for early intervention and even prevention, researchers say.

http://www.nature.com/news/brain-changes-precede-schizophrenia-and-autism-1.14415

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SHANK3 Duplication Leads to Hyperactivity in Mice

Published December 17, 2013 in Simons Foundation Autism Research Institute

Mice with a duplication of SHANK3, a gene with strong links to autism, are hyperactive and manic, reports a study published in Nature.The mice produce about 50 percent more SHANK3 protein than their genetically typical counterparts, the scientists found, much like people with an extra copy of the gene do. The mice also show signs of hyperactivity. The team observed on further testing that the SHANK3 mice show behaviors typically seen in people going through manic episodes. The mice are easier to startle, eat more, have disrupted sleeping patterns and show heightened sensitivity to amphetamine. The mice also have spontaneous seizures.

http://sfari.org/news-and-opinion/in-brief/2013/genetics-shank3-duplication-leads-to-hyperactivity-in-mice

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Study Links Autism and Somalis in Minneapolis

Published December 16, 2013 in New York Times

A long-awaited study has confirmed the fears of Somali residents in Minneapolis that their children suffer from higher rates of a disabling form of autism compared with other children there. The study by the University of Minnesota, the Centers for Disease Control and Prevention, and the research and advocacy group Autism Speaks found high rates of autism in two populations: About one Somali child in 32 and one white child in 36 in Minneapolis were on the autism spectrum. But the Somali children were less likely than the whites to be high-functioning and more likely to have I.Q.s below 70. (The average I.Q. score is 100.) The study offered no explanation of the statistics.

http://www.nytimes.com/2013/12/17/health/study-links-autism-and-somalis-in-minneapolis.html

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Children with Autism Benefit from Peer Solicitation

Published December 12, 2013 in Journal of Child Psychology and Psychiatry.

Peer solicitation a child inviting another to play can improve reciprocal social interaction among children with autism, according to a recent Vanderbilt University study. While the children with autism in the study initiated and engaged in less play overall than typically developing children, the researchers found that other children can facilitate and increase interactions by simple requests. These findings highlight the pivotal role that peers have in social interaction, noting that it only takes a single child to prompt other children with or without autism to interact.

http://news.vanderbilt.edu/2013/12/children-with-autism-benefit-from-peer-solicitation/

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New Diagnostic Tool for Adults with Autism

Published December 9, 2013

Researchers at Karolinska Institutet in Sweden have developed a new screening tool to facilitate the diagnosis of Autism Spectrum Disorder in adults. The test is presented in the scientific journal Molecular Autism and is unique in that researchers have, as part of their evaluation, compared the group diagnosed with Autism Spectrum Disorder with psychiatric patients. In adults, distinguishing Autism Spectrum Disorder from other psychiatric conditions can be a problem, as their symptoms often overlap or are similar to those in schizophrenia, attention deficit and hyperactivity disorder (ADHD) or severe personality disorders.

http://www.molecularautism.com/content/4/1/49/abstract

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White Matter in Brain Develops Differently in Children with Autism

Published December 6, 2013 in Simons Foundation Autism Research Institute

A study in Brain Research shows a difference in how auditory nerve fibers develop may explain why children with autism process sounds a fraction of a second more slowly than typically developing children do. It is known that the brains response to sound speeds up as children age. This boost in speed is known to be accompanied by the maturation of white matter the nerve fibers that connect brain regions. It was once believed that in children with autism, the white matter didn’t mature with age like it does in typically-developing children. However, it is now believed that it does mature with age in children with autism, just in a different way.

http://sfari.org/news-and-opinion/in-brief/2013/cognition-and-behavior-white-matter-shows-delays-in-autism

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Gut Microbes Linked to Autismlike Symptoms in Mice

Published December 5, 2013 in Science Magazine

More information has come about about the gut microbes study in Cell. “I’d want to know more about the mechanism by which the bacteria altered behavior in the mice before beginning to translate the findings to humans” says Emanuel DiCicco-Bloom, a neuroscientist at Rutgers University and member of the ASF Scientific Advisory Board.

http://news.sciencemag.org/biology/2013/12/gut-microbes-linked-autismlike-symptoms-mice

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Bacterium Can Reverse Autism-Like Behaviour in Mice

Published December 5, 2013 in Cell

Caltech researchers gave probiotics to mice that had been bred to have autism-like symptoms and found promising results. After being given the probiotics, the mice were more communicative and less anxious. The treatment also reduced gastrointestinal problems in the animals that were similar to those that often accompany autism in humans.

http://www.cell.com/retrieve/pii/S0092867413014736

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Anxiety and Autism May Share Common Basis

Published December 3, 2013 in Simons Foundation Autism Research Institute

Anxiety runs in families with autism, hinting that the two conditions may share a common origin, suggests a twin study published recently in the Journal of Child Psychology and Psychiatry. Compared with controls, the children who had autism or some features of the disorder experienced more of all forms of anxiety, including social anxiety and episodes of panic, according to parent surveys. They scored especially high on generalized and separation anxiety.

http://sfari.org/news-and-opinion/blog/2013/anxiety-autism-may-share-common-basis

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Oxytocin Improves Brain Function in Children with Autism

Published December 2, 2013 in Proceedings of the National Academy of Sciences

A new study conducted by the Yale Child Study Center shows promising results concerning the use of the hormone oxytocin. The study found that oxytocin, given as a nasal spray,enhanced brain activity while processing social information in children with autism spectrum disorders. This means brain centers associated with reward and emotion recognition responded more during social tasks when the children in the study received oxytocin.

http://medicalxpress.com/news/2013-12-oxytocin-brain-function-children-autism.html

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Sex Differences in Social Perception in Children with ASD

Published December 2, 2013 in Journal of Autism and Developmental Disorders

Autism spectrum disorder is more common in males than females. An underrepresentation of females in the ASD literature has led to limited knowledge of differences in social function across the sexes. A study on face perception has shown that despite being closely matched for symptoms, IQ, and age, the girls showed more pronounced atypical brain response, which suggests they are indeed employing compensatory strategies to look as good as they do.

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Yale Researchers Find Genetic Links to Autism

Published November 21, 2013 in Cell

Scientists at Yale have identified which types of brain cells and regions of the brain are affected by genetic mutations linked to autism spectrum disorders. Researchers state that this new discovery has the potential for new types of autism treatments. We may not need to treat the whole brain, they say; only particular areas of the brain may be affected by autism at certain times.

http://www.cell.com/abstract/S0092-8674(13)01296-8

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Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

Published November 21, 2013 in Cell

"As techniques for studying the human genome have advanced, an increasing number of genes are being associated with ASD; it is important to find the connections between these ASD-linked genes in order to understand how they may contribute to ASD. A new resource called the BrainSpan1 atlas provides researchers with three dimensional maps showing when […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=24267886

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Neurons in Brain’s ‘Face Recognition Center’ Respond Differently in Patients With Autism

Published November 20, 2013 in Cedars-Sinai

In what are believed to be the first studies of their kind, Cedars-Sinai researchers recording the real-time firing of individual nerve cells in the brain found that a specific type of neuron in a structure called the amygdala performed differently in people who suffer from autism spectrum disorder than in those who do not. Researchers discovered that the mouth, much more than the eyes, is what people with autism focus on to decipher emotions expressed through facial expressions.

http://www.cedars-sinai.edu/About-Us/News/News-Releases-2013/Neurons-in-Brains-Face-Recognition-Center-Respond-Differently-in-Patients-With-Autism.aspx

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College Students with Autism Often Succeed with Certain Majors

Published November 19, 2013 in Simons Foundation Autism Research Initiative

Students with autism who attend community colleges two-year local institutions tend to succeed if they study science, technology, engineering or mathematics (STEM), reports a new study published October 26 in the Journal of Autism and Developmental Disorders. Students who studied STEM subjects were less likely to drop out and were twice as likely to transfer to a four-year university than their non-STEM peers.

http://sfari.org/news-and-opinion/blog/2013/college-course

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Synaesthesia is More Common in Autism

Published November 19, 2013 in Molecular Autism

New research out of the University of Cambridge and published in the journal Molecular Autism found that people with autism are more likely to have synaethesia, which involves experiencing a mixing of the senses, such as seeing colors when they hear sounds. Both autism and synaesthesia involve neural over-connectivity, perhaps the reason why synaesthesia is disproportionately common in autism.

http://www.molecularautism.com/content/4/1/40

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Gender Differences in the Relationship Between Social Communication and Emotion Recognition

Published November 19, 2013 in Journal of the American Academy of Child and Adolescent Psychiatry

In a new study published in the Journal of the American Academy of Child and Adolescent Psychiatry, 3,666 children were assessed on their ability to correctly recognize emotions by looking at faces. Children with autistic-like social communication difficulties were compared with children without such difficulties. Autistic-like social communication difficulties were associated with poorer recognition of emotion from social motion cues in both genders, but were associated with poorer facial emotion recognition in boys only. Relatively good performance of girls on the task of facial emotion discrimination may be due to compensatory mechanisms, though more research is needed in this area.

http://www.jaacap.com/article/S0890-8567(13)00542-X/abstract

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RNA Bits Vary in Social, Auditory Brain Areas in Autism

Published November 14, 2013 in Simons Foundation Autism Research Institute

People with autism show differences from controls in the levels of microRNAs, small noncoding bits of RNA, in the social and sound-processing parts of the brain. MicroRNAs, or miRNAs, bind to messenger RNAs, which code for protein, and flag them for degradation. Each miRNA can interfere with the production of several proteins. Of the more than 5,000 miRNAs and other small noncoding RNAs that the researchers screened, they found 3 miRNAs that are dysregulated in these regions in people with autism compared with controls.

http://sfari.org/news-and-opinion/conference-news/2013/society-for-neuroscience-2013/rna-bits-vary-in-social-auditory-brain-areas-in-autism

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Genetic Analysis Links Autism to Missing Brain Structure

Published November 14, 2013 in Simons Foundation Autism Research Institute

The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published PLoS Genetics. The corpus callosum is the thick bundle of nerve fibers that connects the two hemispheres of the brain. People lacking this structure, a condition called agenesis of the corpus callosum (AgCC), often have social impairments, and roughly one-third of adults meet diagnostic criteria for autism. Children with autism seem to have a smaller corpus callosum than controls do.

http://sfari.org/news-and-opinion/news/2013/genetic-analysis-links-autism-to-missing-brain-structure

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New Imaging Method Details Brain Abnormalities in Mice

Published November 14, 2013 in Simons Foundation Autism Research Initiative

A new imaging technique that can assemble finely detailed pictures of an individual mouses brain in less than a day is being used to explore mouse models of autism. The automated technique cuts a mouse brain into 280 thin slices, which are scanned by a powerful microscope and the resulting images are then stitched together into a three-dimensional view. The researchers used this technique to investigate the imbalance of excitatory and inhibitory signals in a mouse model of 16p11.2 deletion. People missing this chromosomal region have an increased risk for autism, and about one-quarter have epilepsy, in which an excess of excitatory signals causes seizures.

http://sfari.org/news-and-opinion/conference-news/2013/society-for-neuroscience-2013/new-imaging-method-details-brain-abnormalities-in-mice

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iPads Help Late-Speaking Children with Autism Develop Language

Published November 12, 2013 in Vanderbilt University

New research out of Vanderbilt Peabody College of education and human development found that using speech-generating devices, such as iPads, to encourage children ages 5 to 8 to develop speaking skills resulted in the subjects developing considerably more spoken words compared to other interventions. All of the children in the study learned new spoken words and several learned to produce short sentences as they moved through the training.

http://news.vanderbilt.edu/2013/11/ipads-autism-language/

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Attention to Eyes is Present but in Decline in 26-Month-old Infants Later Diagnosed with Autism

Published November 6, 2013 in Natue

Today, in a publication in Nature, scientists show that it is possible to identify markers of autism in the first 6 months of life, much before children begin to show symptoms. In this study, these markers predicted both diagnosis and level of disability 2 12 years later when the children were evaluated by expert clinicians. The scientists used eye-tracking technology to measure the way babies visually engage with others. If these results are replicated in larger samples, these procedures might in the future empower primary care physicians to screen for autism as part of routine well-baby check ups. Equal energy and resources will then have to be invested in improving access to early treatment so that children are afforded the opportunity to fulfill their full potential.

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12715.html

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Gastrointestinal problems in children with autism, developmental delays or typical development

Published November 6, 2013 in Journal of Autism and Developmental Disororders

"To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the Childhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior Checklist (ABC) subscales comparing ASD children […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=24193577

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Gastrointestinal problems in children with autism, developmental delays or typical development

Published November 6, 2013 in Journal of Autism and Developmental Disororders

"To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the Childhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior Checklist (ABC) subscales comparing ASD children […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=24193577

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Mild Traits of Autism May Shift with Cultures

Published November 4, 2013 in Simons Foundation Autism Research Initiative

Clinicians around the world diagnose children with autism, but is autism the same disorder around the world? A team of researchers has begun testing this question by comparing children in two European countries. The American definition of autism travels well across international borders in the case of British and Finnish children, they reported in the journal Autism. However, when the researchers compared mild traits of autism collectively referred to as broad autism phenotype, or BAP those of children from Finland do not line up well with descriptions in the DSM-5. This may be because of differences in language, culture and genetics between Finland and the U.K.

http://sfari.org/news-and-opinion/news/2013/mild-traits-of-autism-may-shift-with-cultures-study-says

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Psychotropic Medication Use and Polypharmacy in Children with Autism Spectrum Disorders

Published November 1, 2013 in Pediatrics

The objectives of this study were to examine rates and predictors of psychotropic use and multiclass polypharmacy among commercially insured children with autism spectrum disorders. Despite minimal evidence of the effectiveness or appropriateness of multidrug treatment of ASD, psychotropic medications are commonly used, singly and in combination, for ASD and its co-occurring conditions. Our results indicate the need to develop standards of care around the prescription of psychotropic medications to children with ASD.

http://www.ncbi.nlm.nih.gov/pubmed/24144704

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Genetic Link Between Family Members with Autism and Language Impairment

Published October 30, 2013 in American Journal of Psychiatry

New research shows a genetic link between individuals with autism and family members with specific speech and language difficulties otherwise unexplained by cognitive or physical problems. Researchers discovered that genes in a small region of two chromosomes can lead to one family member developing autism and another family member only developing language impairment.

http://ajp.psychiatryonline.org/article.aspx?articleid=1763818

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Spinning System Turns Stem Cells Into Mini-Brains

Published October 30, 2013 in Simons Foundation Autism Research Institute

Researchers have coaxed human stem cells to develop into simplified mini-brains, with regions resembling discrete brain structures, reported in the journal Nature. A spinning culture system prods stem cells to develop into neurons in three dimensions. The culture system is a gelatinous protein-rich mixture that provides both the structural support and nutrients required for neuronal development. Already, the researchers have shown that these artificial brains may model human disorders better than real mouse brains do.

http://sfari.org/news-and-opinion/toolbox/2013/spinning-system-turns-stem-cells-into-mini-brains

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Maternal Prenatal Weight Gain and Autism Spectrum Disorders

Published October 28, 2013 in Pediatrics

New research from the University of Utah and published in the journal Pediatrics has uncovered an association between autism spectrum disorders and a small increase in the amount of weight a mother gains during pregnancy. These findings suggest that weight gain during pregnancy is not the cause of ASD but rather may reflect an underlying process that it shares with autism spectrum disorders, such as abnormal hormone levels or inflammation.

http://pediatrics.aappublications.org/content/early/2013/10/23/peds.2013-1188.abstract

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Study Ties Growth Factor to Autism

Published October 22, 2013 in Simons Foundation Autism Research Initiative

Mutations in the autism-linked protein NHE6 may block the development of neuronal junctions by interfering with a growth factor called BDNF, according to a study published in the journal Neuron. The results suggest that drugs that enhance BDNF signaling could treat some forms of autism, the researchers say.

http://sfari.org/news-and-opinion/in-brief/2013/molecular-mechanisms-study-ties-growth-factor-to-autism

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Kids with Autism are Often on Many Medications at Once

Published October 21, 2013 in Pediatrics

According to a new study in the journal Pediatrics, kids with autism are often prescribed mood altering drugs, sometimes many at one time and for extended periods of time. These drugs include antipsychotics, antidepressants, and anti-anxiety medications. The study states that this practice occurs despite minimal evidence of the effectiveness or appropriateness of multidrug treatment of ASD.

http://pediatrics.aappublications.org/content/early/2013/10/16/peds.2012-3774

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Researchers Can Now Track Multiple Mice Simultaneously

Published October 16, 2013 in Simons Foundation Autism Research Institute

Researchers have developed software that can automatically track and catalog the behavior of up to four mice at once. Mice are often used for autism research because they are easy to manipulate genetically. This new method, which involves using images taken by a heat-sensing camera and a new software algorithm, makes collecting research more efficient.

http://sfari.org/news-and-opinion/toolbox/2013/automated-tool-spies-on-multiple-mice-simultaneously

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Autism Rates Rise in US, but Level Off in UK

Published October 16, 2013 in BMJ Open

Autism rates in the United Kingdom appear to have leveled off between the years 2000 and 2010 after a five-fold rate increase in the 1990s. The report, published in the journal BMJ Open, does not have any conclusive answers as to why there was such a dramatic increase in autism diagnosis in the 1990s, but it does state that any link between autism and vaccines has been ruled out. This BMJ Open report is being compared to a report released by the CDC last year that found rates of autism diagnosis in the United States increased 78 percent between 2004 and 2008.

http://www.eurekalert.org/pub_releases/2013-10/bmj-nco101413.php

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ASF Grantee Publishes Paper in Nature that Brings Insight to Study of Phelan-McDermid Syndrome and Autism

Published October 16, 2013 in Nature

A new study brings important insights about the cellular and molecular mechanisms involved in the loss and gain of synaptic function in human neurons from patients with Phelan-McDermid syndrome and autism. It also provides encouragement that neurons derived from induced pluripotent stem cells of patients will be useful in understanding and developing treatments for neurodevelopmental and psychiatric disorders.

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12618.html

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Babies Born to Women with Diabetes may be at Higher Risk for Autism

Published October 15, 2013 in Simons Foundation Autism Research Institute

Babies born to women with gestational diabetes tend to be large and go through spells of low blood sugar within their first few days of life. They may also be at an increased risk for autism, reports a study published in the Journal of Autism and Developmental Disorders. The study also found that the risk extends to children born to women who had diabetes prior to pregnancy.

http://sfari.org/news-and-opinion/blog/2013/diabetic-jeopardy

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Autism and Epilepsy Cases Share Mutations

Published October 15, 2013 in Simons Foundation Autism Research Institute

About one-third of people with autism suffer from epilepsy. This overlap suggests that the two disorders may have a common origin a theory borne out by examples of shared genetics. Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published in Nature. The study also found that many of the spontaneous mutations found in children with epilepsy overlap with those linked to autism and fragile X syndrome.

http://sfari.org/news-and-opinion/in-brief/2013/genetics-autism-epilepsy-cases-share-mutations

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Researchers Grow Large Batches of Neurons for Drug Screening

Published October 9, 2013 in Simons Foundation Autism Research Institute

Researchers have optimized the production from stem cells of large numbers of a subtype of neurons involved in cognitive function. These neurons express the chemical messenger glutamate and are implicated in cognitive disorders such as autism. This technique, published in Translational Psychiatry, could generate enough neurons for large-scale screening of drugs.

http://sfari.org/news-and-opinion/toolbox/2013/researchers-grow-large-batches-of-neurons-for-drug-screening

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Deleted Genes Offer Autism Clues

Published October 3, 2013 in American Journal of Human Genetics

Research published in the American Journal of Human Genetics found that people with ASDs often have just one copy of certain genes, when typically-developing people have two. This “mis-wiring” could alter the activity of nerve cells in the brain. The study found that the most commonly missing genes were linked to autophagy – a kind of waste-disposal and renewal process for cells. This study was led by Dr. Joseph Buxbaum, who is on ASF’s Scientific Advisory Board.

http://www.bbc.co.uk/news/health-24381462

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Superior Math Skills Can Accompany Autism

Published October 3, 2013 in Simons Foundation Autism Research Institute

Some children with autism show unique patterns of brain activation while solving math problems, particularly in a brain region normally used for face processing, suggests a study in Biological Psychiatry. They also seem to use more sophisticated mental strategies to solve these problems than do their typically developing peers, the researchers found.

http://sfari.org/news-and-opinion/news/2013/superior-math-skills-may-accompany-autism-study-suggests

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New Behavioral Test Uncovers Autism Mouse’s Stubbornness

Published October 2, 2013 in Simons Foundation Autism Research Institute

Researchers have developed a new test that reveals complex repetitive behaviors in BTBR mice, a mouse strain with features resembling those of autism, according to a study published in the Journal of Neuroscience Methods. Repetitive behavior is common in autism, and usually comes in two forms: repetitive actions, such as hand flapping or rocking, and higher-order symptoms, such as an insistence on sameness, or restricted interests. This second form is difficult to produce in mice, but these researchers believe they have been able to do it.

http://sfari.org/news-and-opinion/toolbox/2013/new-behavioral-test-uncovers-autism-mouses-stubbornness

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Autism Symptoms Change Over Time

Published October 1, 2013 in Simons Foundation Autism Research Institute

Siblings of children with autism who are later diagnosed with the disorder themselves become more active, less adaptable and less likely to approach others over time, according to a study published in the Journal of Autism and Developmental Disorders. The results reinforce the observation that autism symptoms evolve as children age, the researchers say.

http://sfari.org/news-and-opinion/in-brief/2013/cognition-and-behavior-autism-symptoms-change-over-time

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Kids with Cerebral Palsy More Likely to Have Autism

Published October 1, 2013 in Centers for Disease Control and Prevention

New research from the CDC and published in the journal Developmental Medicine & Child Neurology found significantly high rates of autism among children diagnosed with cerebral palsy. Of the 147,000 children studied, seven percent of the children with cerebral palsy were also diagnosed with autism, compared to a little greater than one percent of kids who have autism in the general population.

http://onlinelibrary.wiley.com/doi/10.1111/dmcn.12268/abstract

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Study Finds No Link Between ASDs and Celiac Disease

Published September 25, 2013 in JAMA Psychiatry

A new nationwide study conducted in Sweden and published in JAMA Psychiatry found there to be no link between celiac disease and autism spectrum disorders. There was, however, some evidence that people who have been diagnosed with autism are more sensitive to gluten, even though they don’t have celiac disease. The design of the study did not allow for a conclusion that gluten sensitivity caused autism, nor vice versa.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1743008

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Kids with Autism Often Have Trouble Sleeping

Published September 23, 2013 in Archives of Disease in Children

The results of a recent study will probably come as no surprise to most parents of children with autism: children with ASDs have more sleep problems than their peers. In fact, between ages 2.5 and 11.5, kids with autism average 43 fewer minutes of sleep per night when compared to their typically-developing peers. The next step is to research how less sleep may play a part in behavior problems.

http://adc.bmj.com/content/early/2013/08/22/archdischild-2013-304083.full

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“In the Driver’s Seat”: Parent Perceptions of Choice in a Participant-Directed Medicaid Waiver Program for Young Children with Autism

Published September 22, 2013 in Journal of Autism and Developmental Disorders

This study investigated families’ experience of choice within a participant-directed Medicaid waiver program for young children with autism. Fourteen parents or grandparents participated in in-depth interviews about their experience of choosing personnel, directing in-home services, and managing the $25,000 annual allocation. Key findings included families’ preference to hire providers with whom they have a prior relationship, parent empowerment and differences of opinion about parents as teachers. Professionals implementing participant directed service models could benefit from understanding the strong value parents’ placed on the personalities and interpersonal skills of providers. Parents’ descriptions of directing rather than merely accepting autism services revealed increased confidence in their ability to choose and manage the multiple components of their children’s HCBS autism waiver program.

http://www.ncbi.nlm.nih.gov/pubmed/24057132

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Autism Drugs in Some Countries have Serious Side Effects

Published September 20, 2013 in Simons Foundation Autism Research Institute

The most popular drugs prescribed for autism in some countries often have serious side effects or have not been vetted in robust clinical trials, finds a survey published in the journal Psychopharmacology. Additionally, children with ASDs take more drugs than adults with ASDs. ADHD in children with autism may play a factor in this.

http://sfari.org/news-and-opinion/blog/2013/world-of-drugs

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Study Finds that a Subset of Children with Autism may be Misdiagnosed

Published September 18, 2013 in Journal of Autism and Developmental Disororders

A study by researchers with the UC Davis MIND Institute studied children with chromosome 22q11.2 deletion syndrome, who as a group have a prevalence of autism between 20 and 50 percent according to parent reports. This study found that these children may be getting misdiagnosed because the symptoms of the chromosome 22q11.2 deletion syndrome, including social impairments, are very similar to symptoms of autism.

http://link.springer.com/article/10.1007/s10803-013-1920-x

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People with Autism Don’t Always “Catch” Yawns

Published September 17, 2013 in Simons Foundation Autism Research Institute

A new study finds that people with autism often miss facial cues that lead other people to “catch” yawns. Because individuals with autism often avoid looking at other people’s faces, they may not pick up on the cues, such as closed eyes, that would encourage them to yawn. However, when asked to look at someone’s face as they yawn, people with autism do yawn just as often as people without autism.

http://sfari.org/news-and-opinion/blog/2013/infectious-yawns

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Autism Genes are Surprisingly Large, Study Finds

Published September 16, 2013 in Simons Foundation Autism Research Institute

In a study recently published in the journal Nature, researchers discovered that autism genes are three to four times longer than the average gene expressed in neurons. According to the study, most mutations found in long genes tend to be discounted due to the fact that long genes generally have a higher probability of having a mutation, but the study says researchers think mutations in long genes should be looked at more carefully from now on.

http://sfari.org/news-and-opinion/news/2013/autism-genes-are-surprisingly-large-study-finds

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Profile: Autism Science Foundation on About.com

Published September 15, 2013 in About.com

About.com writer Lisa Jo Rudy profiles The Autism Science Foundation in her quest to help readers decipher who’s who in the autism world.

http://autism.about.com/od/whoswhoinautism/a/Profile-The-Autism-Science-Foundation.htm

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Most People Who Work with Special-Needs Children Lack Knowledge About Fragile X

Published September 13, 2013 in Simons Foundation Autism Research Initiative

According to a recent study in the journal Intellectual and Developmental Disabilities, most people who work with special-needs children lack basic knowledge about Fragile X syndrome, even though it is the leading cause of inherited intellectual disability. Most people studied did not know many of the symptoms of the syndrome or how best to support children with Fragile X syndrome.

http://sfari.org/news-and-opinion/blog/2013/fragile-facts

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Alarm Over Autism Test

Published September 13, 2013 in Science Magazine

A research group exploring the hypothesis that certain maternal antibodies can impair fetal brains has partnered with a company to develop a test for predicting whether a woman will have a child with autism. The antibodies, they claim, could account for up to a quarter of all autism cases. But other autism scientists are skeptical that the evidence is strong enough to make such a claim, or to consider an autism test based on the antibodies.

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Oxytocin and Serotonin May Not be Rewarding Social Interactions in Autistic Brain

Published September 11, 2013 in Nature

In the brain, oxytocin and serotonin work together to make social interactions pleasurable, rewarding, and worth repeating. A new study in the journal Nature shows that in individuals with autism, these rewarding functions may not be occurring properly, making social interaction uncomfortable.

http://www.nature.com/nature/journal/v501/n7466/full/nature12518.html

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Autistic Children Can Miss Non-Verbal Cues When Listening

Published September 10, 2013 in Developmental Science

Due to the fact that many people with autism spectrum disorders have difficulty holding eye contact during face to face interaction, these people can miss out on important non-verbal cues during this interaction. The study also found that most people, whether typically- or non-typically developing, have difficulty holding eye contact when thinking, such as if asked to answer a challenging math problem.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627295/

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Young Adults with Autism Found to Have Difficulty Transitioning Into Employment

Published September 5, 2013 in Journal of the American Academy of Child and Adolescent Psychiatry

A study in the Journal of the American Academy of Child and Adolescent Psychiatry notes that young adults with autism spectrum disorders are experiencing particular difficulty in successfully transitioning into employment. Approximately one half of young adults with an ASD have worked for pay outside the home in the first eight years following high school. The study concludes that further research is needed to determine strategies for improving outcomes as these young adults transition into adulthood.

http://www.ncbi.nlm.nih.gov/pubmed/23972695

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Genome-Editing Tools Compose New Models of Autism

Published September 5, 2013 in Simons Foundation Autism Research Institute

New synthetic biology tools have allowed for great advances in genetic testing of many mutations. This technology known as CRISPR (clustered regularly interspaced short palindromic repeats) allows researchers to create molecular scissors that cut and paste essentially any mutation into the genome of any cell, including a human stem cell.

http://sfari.org/news-and-opinion/news/2013/genome-editing-tools-compose-new-models-of-autism

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Simons Foundation Autism Research Initiative Opens 2014 Request for Applications

Published September 4, 2013 in Simons Foundation Autism Research Institute

SFARI’s annual RFA will provide funding for investigators conducting bold, creative and rigorous research into the underlying biology, causes and treatment of autism spectrum disorders. SFARI will consider proposals in diverse areas, including genetics, molecular mechanisms, circuits, anatomy, sensory perception, cognition, behavior, translation and therapeutics.

http://sfari.org/funding/grants/pilot-and-research-award-rfa/pilot-research-award-rfa-index

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Study of Nonverbal Autism Must Go Beyond Words, Experts Say

Published September 2, 2013 in Simons Foundation Autism Research Institute

About one fourth of people with autism are minimally verbal or nonverbal. Early intervention programs have been helping children develop language skills, but researchers say that seemingly unrelated issues such as motor skills and joint attention may hold the key to communication development.

http://sfari.org/news-and-opinion/news/2013/study-of-nonverbal-autism-must-go-beyond-words-experts-say

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New Tools Validate Dish-Grown Neurons for Autism Research

Published September 1, 2013 in Simons Foundation Autism Research Initiative

Creating neurons from stem cells in a lab dish is a popular approach for studying developmental disorders such as autism. For this, researchers begin with stem cells, either taken from postmortem fetal brains or reprogrammed from other cells. They then chemically coax them into becoming neurons. Two new studies suggest that neurons made from stem cells recapitulate the early stages of development, making them good models for disorders such as autism. However, the neurons never fully reach the maturity of neurons found in adult brains.

http://sfari.org/news-and-opinion/news/2014/new-tools-validate-dish-grown-neurons-for-autism-research?utm_source=Autism+research+news+from+SFARI.org&utm_campaign=576c25ed96-SFARI_Newsletter_20140902&utm_medium=email&utm_term=0_0a60ccb345-576c25ed96-388511

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Integrating Mental Health Services for Mothers of Children With Autism

Published September 1, 2013 in Psychiatric Services

Although up to 40% of mothers of children with autism report clinically significant depressive symptoms, there has been little attention to the mental health needs of parents. Because most autism services for young children rely on active parental engagement to deliver recommended therapies, maternal functioning directly affects the intensity and quality of therapy that children with autism receive. Developing feasible and acceptable strategies to support the mental health of mothers who care for children with autism has the potential to optimize both maternal and child functioning.

http://ps.psychiatryonline.org/article.aspx?articleid=1730565

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New Blog Post: Music Therapy May Help Children with Autism

Published August 30, 2013 in Autism Science Foundation Blog

A 2004 study from the Journal of Music Therapy found that music in interventions used with children and teens with ASD can improve social behaviors, increase focus and attention, increase communication attempts (vocalizations, verbalizations, gestures, and vocabulary), reduce anxiety, and improve body awareness and coordination. Read all about it in our newest blog post written by Marcela De Vivo.

http://autismsciencefoundation.wordpress.com/2013/08/30/music-therapy-may-help-children-with-autism/

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Long-Term Outcomes of Parent-Assisted Social Skills Intervention for High-Functioning Children with Autism Spectrum Disorders

Published August 30, 2013 in Autism

This study aims to evaluate the long-term outcome of Children’s Friendship Training, a parent-assisted social skills intervention for children. Prior research has shown Children’s Friendship Training to be superior to wait-list control with maintenance of gains at 3-month follow-up. Participants were families of children diagnosed with autism spectrum disorder who completed Children’s Friendship Training 1-5 years earlier. They were recruited through mail, phone, and email. Information collected included parent and child completed questionnaires and a phone interview. Data were collected on 24 of 52 potential participants (46%). With an average of 35-month follow-up, participants had a mean age of 12.6 years. Results indicated that participants at follow-up were invited on significantly more play dates, showed less play date conflict, improved significantly in parent-reported social skills and problem behaviors, and demonstrated marginally significant decreases in loneliness when compared to pre-Children’s Friendship Training.

http://www.ncbi.nlm.nih.gov/pubmed/23996903

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In Autism, Head and Body Size Varies with Gender

Published August 29, 2013 in Simons Foundation Autism Research Institute

Girls with autism tend to have smaller heads and bodies than their typically developing peers, whereas boys with the disorder tend to have average-sized heads and slightly larger bodies, report two recent studies. This shows another way that autism affects males and females differently.

http://sfari.org/news-and-opinion/news/2013/in-autism-head-and-body-size-varies-with-gender

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Researchers Discover a Potential Cause of Autism

Published August 28, 2013 in Natue

Researchers at UNC have discovered that problems with a key group of enzymes known as topoisomerases can have profound effects on the genetic machinery behind brain development and potentially lead to autism spectrum disorder. Researchers believe this finding represents a great step forward in the search for environmental factors behind autism.

http://www.nature.com/nature/journal/v501/n7465/full/nature12504.html

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Study Aims to Capture Autism’s Transition into Adulthood

Published August 26, 2013 in Simons Foundation Autism Research Institute

For adolescents with autism or other developmental disorders, the transition to adulthood can be especially difficult. A large study in the U.K. is researching this transition period when this group is aging out of pediatric healthcare services and entering the adult system.

http://sfari.org/news-and-opinion/news/2013/study-aims-to-capture-autisms-transition-into-adulthood

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The Autism Science Foundation and the NIH Fund Study of Promising Treatment for Autism Subtypes

Published August 26, 2013 in Newswise

Scientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received grants from the National Institutes of Health and the Autism Science Foundation to study Insulin-Like Growth Factor-1 (IGF-1), a promising treatment for subtypes of autism. Clinical Director at the Seaver Autism Center, Dr. Alex Kolevzon, says, “IGF-1 has the potential to be effective in treating Phelan-McDermid Syndrome and other types of autism spectrum disorder. We are very pleased that the NIH and the Autism Science Foundation have recognized this by providing us funding to continue our work in bringing this medication to our patients.

http://www.newswise.com/articles/researchers-from-the-icahn-school-of-medicine-at-mount-sinai-receive-nih-grant-to-study-promising-treatment-for-autism-subtype?ret=/articles/list&category=medicine&page=1&search%5Bstatus%5D=3&search%5Bsort%5D=date+desc&sea

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Recurrence of Autism Spectrum Disorders in Full- and Half-Siblings and Trends Over Time

Published August 22, 2013 in JAMA Pediatrics

Children who have an older sibling with autism are seven times more likely than other kids to be diagnosed with autism themselves, according to a new study from Denmark. A higher-than-average risk was also detected for children who have a half-sibling with ASD, especially if the two children had the same mother.

http://archpedi.jamanetwork.com/article.aspx?articleid=1728998

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FDA Warns Against Hyperbaric Oxygen Therapy for Autism

Published August 22, 2013 in U.S. Food and Drug Administration

The FDA has issued a warning against using Hyperbaric Oxygen Therapy (HBOT) in the treatment of autism. HBOT involves breathing oxygen in a pressurized chamber. This treatment has not been cleared by the FDA for the treatment of autism, though there are some places on the internet that falsely claim it has. The FDA urges people to work with their health care professional to determine their best choice for treatment.

http://www.fda.gov/ForConsumers/ConsumerUpdates/ucm364687.htm

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Assessment of Global Functioning in Adolescents with ASD: Utility of the Developmental Disability-Child Global Assessment Scale

Published August 21, 2013 in Autism

Assessment of global functioning is an important consideration in treatment outcome research; yet, there is little guidance on its evidence-based assessment for children with autism spectrum disorders. This study investigated the utility and validity of clinician-rated global functioning using the Developmental Disability-Child Global Assessment Scale in a sample of higher functioning adolescents with autism spectrum disorders and comorbid anxiety disorders enrolled in a randomized controlled trial (n = 30). Pretreatment Developmental Disability-Child Global Assessment Scale scores correlated with severity of autism spectrum disorders core symptoms (r = -.388, p = .034), pragmatic communication (r = .407, p = .032), and verbal ability (r = .449, p = .013) and did not correlate with severity of anxiety symptoms or with parent-reported adaptive behavior. Change in Developmental Disability-Child Global Assessment Scale scores during treatment was associated with autism spectrum disorders symptomatic improvement (r = .414, p = .040) and with improved general communication (r = .499, p = .013). Results support the importance of assessing global functioning in addition to symptom change and treatment response in clinical trials.

http://www.ncbi.nlm.nih.gov/pubmed/23965288

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Selective Serotonin Reuptake Inhibitors for Treating People with Autism Spectrum Disorders

Published August 20, 2013 in Cochrane Collaboration

Autism spectrum disorders (ASD) are characterised by problems with social interaction and communication, as well as repetitive behaviours and limited activities and interests. Selective serotonin reuptake inhibitors (SSRIs) are a class of antidepressants that are sometimes given to reduce anxiety or obsessive?compulsive behaviours. We found nine trials, involving 320 people, which evaluated four SSRIs: fluoxetine, fluvoxamine, fenfluramine and citalopram. Five studies included only children and four studies included only adults. One trial enrolled 149 children, but the other trials were much smaller. We found no trials that evaluated sertraline, paroxetine or escitalopram. There is no evidence to support the use of SSRIs to treat autism in children. There is limited evidence, which is not yet sufficiently robust, to suggest effectiveness of SSRIs in adults with autism. Treatment with an SSRI may cause side effects. Decisions about the use of SSRIs for established clinical indications that may co?occur with autism, such as obsessive?compulsive disorder and depression in adults or children, and anxiety in adults, should be made on a case?by?case basis.

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0012940/

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Risk of Epilepsy Linked to Age and Intelligence

Published August 19, 2013 in Simons Foundation Autism Research Initiative

Children with autism who are older than 13 years and have low intelligence are at the greatest risk of having epilepsy, says one of the largest epidemiological studies on the issue to date. The presence of epilepsy among the general population is around two percent; the prevalence of epilepsy among people with autism is around thirty percent. This study breaks down occurrence of epilepsy by age, with children ages 13 to 17 having the highest prevalence.

http://sfari.org/news-and-opinion/news/2013/risk-of-epilepsy-in-autism-tied-to-age-intelligence

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Pediatrician Identification of Latino Children at Risk for Autism Spectrum Disorder

Published August 19, 2013 in Pediatrics

Latino children with autism are being diagnosed less often and later than non-minority children. This new study in Pediatrics shows that this may be due to a language barrier between doctors and patients, along with a lack of dissemination of culturally appropriate ASD materials to Latino families.

http://pediatrics.aappublications.org/content/early/2013/08/13/peds.2013-0383

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Autistic Kids Who Best Peers at Math Show Different Brain Organization

Published August 16, 2013 in Biological Psychiatry

Children with autism and average IQs consistently demonstrated superior math skills compared with nonautistic children in the same IQ range, according to a study by researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital.

http://www.sciencedaily.com/releases/2013/08/130816130353.htm

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Autism Four Times Likelier When Mother’s Thyroid is Weakened

Published August 13, 2013 in Annals of Neurology

A study from the Houston Methodist Neurological Institute and Erasmus Medical Centre discovered that mothers who do not produce enough of a thyroid hormone, thyroxine, are nearly four times more likely to have a child with autism. In the past, this hormone has been shown to be important in the migration of fetal brain cells during embryo development.

http://www.methodisthealth.com/methodist.cfm?xyzpdqabc=0&id=495&action=detail&ref=1078

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Induced Labor Associated with Autism Risk

Published August 13, 2013 in JAMA Pediatrics

A study posted in JAMA Pediatrics shows an association with induced and augmented labor with an increased risk of autism. Researchers at Duke University Medical Center studied over 625,000 live births, of which 5,500 were documented as having autism. The study adds, While these results are interesting, further investigation is needed to differentiate among potential explanations of the association, including underlying pregnancy conditions requiring the eventual need to induce/augment, the events of labor and delivery…and the specific treatments and dosing used.”

http://archpedi.jamanetwork.com/article.aspx?articleid=1725449

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Autisms Unexpected Link to Cancer Gene

Published August 11, 2013 in The New York Times

Researchers have recently discovered that two seemingly unrelated conditions, autism and cancer, share an unexpected connection. Some people with autism have specific mutated cancer or tumor genes that scientists believe caused their autism. While this does not apply to all people with autism, just the ones with the mutated gene, it is a very illuminating discovery in the field.

http://www.nytimes.com/2013/08/13/health/autisms-unexpected-link-to-cancer-gene.html?pagewanted=all

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Multinational Resource Combines Autism Risk Factors

Published August 5, 2013 in Simons Foundation Autism Research Initiative

A new database compiles health data from seven countries, greatly expanding sample size for epidemiological autism studies. This project, the International Collaboration for Autism Registry Epidemiology (iCARE), combines data from 80,000 individuals diagnosed with autism from the years 1967 to 2009.

http://sfari.org/news-and-opinion/news/2013/multinational-resource-compiles-autism-risk-factors

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Genetic Discovery Links Autism and Schizophrenia

Published August 4, 2013 in Nature Neuroscience

Nelson Freimer and colleagues at UCLA studied a population in an isolated area of Finland where Schizophrenia is more common than in the average Finnish population. In this small group, it was discovered that the presence of a deletion on part of chromosome 22 was much more prevalent than in the rest of the population. This deleted region normally contains an enzyme, TOP3B. This lack of TOP3B is also linked to disruptions that can lead to Fragile X Syndrome, showing there may be a biological link between Fragile X and Schizophrenia. An article about this study can be found here:http://www.newscientist.com/article/dn23995-genetic-discovery-links-autism-and-schizophrenia.html#.UgJvzZJJNf2

http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3484.html

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New Study Deciphers Potential Roles of Oxytocin in Brain Function

Published August 4, 2013 in Nature

An NYU study explored the role of oxytocin in the brain’s ability to filter wanted stimuli from unwanted stimuli. The researchers suggest that the neurohormone, oxytocin, is not only used to reduce unwanted background noise but also plays a key function in strengthening desired signals.

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12330.html

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Grandfather’s Age Linked to Autism

Published August 1, 2013 in JAMA Psychiatry

A new study published in JAMA Psychiatry found that men who fathered children at age 50 or older were nearly twice as likely to have a grandchild with autism compared to men who had children at a younger age. The study focused on age-related aspects and sought to control any other variables, such as socioeconomic status.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701020/

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Dr. Jennifer Elder Provides Commentary on Current Research for the Gluten-Free, Casein-Free (GFCF) Diet

Published August 1, 2013

Dr. Jennifer Elder provides an evidence-based discussion about the Gluten-Free, Casein-Free Diet in her guest blog post for the blog series “Comorbid Conditions with Autism”. Dr. Elder’s goal was to highlight what current research says about the GFCF diet so families can make an informed decision if it is right for them.

http://autismsciencefoundation.wordpress.com/2013/08/01/autism-and-the-gluten-free-casein-free-gfcf-diet/

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Dr. Susan Hyman Discusses GI Problems in Children with Autism for a Guest Blog Post

Published July 30, 2013

Dr. Susan Hyman addressed many important questions about GI problems associated with autism for our guest blog series “Comorbid Conditions with Autism”. In the post, she provided an informed update on current evidence-based research in the area of GI problems and autism.

http://autismsciencefoundation.wordpress.com/2013/07/30/gastrointestinal-symptoms-in-children-with-autism-spectrum-disorders/

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Cholesterol connection to Rett Syndrome

Published July 28, 2013 in Nature Genetics

Professor Monica Justice has written a study on a connection between cholesterol and Rett Syndrome. Statin drugs, known to lower cholesterol, were shown to increase mobility, overall health scores, and lifespan in mice with Rett Syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/?term=A+suppressor+screen+in+Mecp2+mutant+mice+implicates+cholesterol+metabolism+in+Rett+syndrome

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Preferred Play Activities of Children with Autism Spectrum Disorder in Naturalistic Settings

Published July 25, 2013 in North American Journal of Medicine and Science

Play is important to children’s development, and a new study has found the types of play that appeal most to children with ASD: play that provides strong sensory feedback, cause-and-effect results, and repetitive motions. Incorporating this type of play in recreational facilities, after-school programs, and playgrounds encourages inclusion and social interaction with peers.

http://najms.net/v06i03p128w/

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New Technique Maps Topography of Autism Brain Connections

Published July 22, 2013 in Proceedings of the National Academy of Sciences

A technique borrowed from geography bolsters the idea that altered wiring of the brains gray matter plays a role in autism, according to a new report. This is the first study to examine intrinsic connectivity in the living brain.

http://www.ncbi.nlm.nih.gov/pubmed/23878213

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Researchers Find Reduced Microbial Diveristy In Gut of Individuals with Autism

Published July 13, 2013 in PLoS One

Researchers found that individuals with autism have significantly fewer kinds of bacteria in their intestines. However, there was no relationship found between microbial diversity and severity of GI problems.

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0068322

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Problematic Antibodies Affecting Brain Development During Pregnancy Could Help Explain 1/4 of Cases of Autism

Published July 9, 2013 in Translational Psychiatry

Antibodies found almost exclusively in mothers with children who have autism have a certain anitbody that may be affecting brain development during pregnancy. The same study says that these antibodies could account for nearly 1/4 of all cases of autism.

http://www.nature.com/tp/journal/v3/n7/abs/tp201350a.html

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Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkey

Published July 9, 2013 in Translational Psychiatry

Recent studies have produced findings that suggest that immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and affect brain development. Researchers believe that this may lead to one form of ASD. The activity of IgG antibodies was monitored in groups of female rhesus monkeys during their first and second trimesters of pregnancy. Results […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=23838889

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Maternal Antibodies from Mothers of Children with Autism Alter Brain Growth and Social Behavior Development in the Rhesus Monkey

Published July 9, 2013 in Translational Psychiatry

Antibodies directed against fetal brain proteins of 37 and 73?kDa molecular weight are found in approximately 12% of mothers who have children with autism spectrum disorder (ASD), but not in mothers of typically developing children. This finding has raised the possibility that these immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and impact brain development, leading to one form of ASD.

http://www.nature.com/tp/journal/v3/n7/full/tp201347a.html

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Maternal Antibodies from Mothers of Children with Autism Alter Brain Growth and Social Behavior Development in the Rhesus Monkey

Published July 9, 2013 in Translational Psychiatry

Antibodies directed against fetal brain proteins of 37 and 73?kDa molecular weight are found in approximately 12% of mothers who have children with autism spectrum disorder (ASD), but not in mothers of typically developing children. This finding has raised the possibility that these immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and impact brain development, leading to one form of ASD.

http://www.nature.com/tp/journal/v3/n7/full/tp201347a.html

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Controversial Study Suggests That An Ear Muscle In Children with Autism Responds to Lower Decibel Sounds Than Typical Controls

Published July 3, 2013 in Autism Research and Treatment

A controversial study suggests that an ear muscle in children with autism responds to sounds that are a few decibels lower compared to typically developing children. Some researchers suggest this could be used as a simple clinical biomarker for autism but some scientists disagree.

http://www.ncbi.nlm.nih.gov/pubmed/23825093

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Study Examines the Effects of In Vitro Fertilization (IVF) on Autism Risk

Published July 3, 2013 in JAMA Psychiatry

This study found that most in vitro fertilization (IVF) procedures do not show an increase in the risk of autism. However, it found a small increase in the risk of autism in the most severe forms of male infertility that require surgical sperm retrieval.

http://jama.jamanetwork.com/article.aspx?articleid=1707701

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Mothers Who Have Children with ASD Show Significantly Higher Levels of Fatigue

Published July 1, 2013 in Autism

This study shows that parents who have children with ASD show significantly higher levels of fatigue when compared to mothers of typically developing children. The study argues the need for interventions that specifically target maternal fatigue.

http://www.ncbi.nlm.nih.gov/pubmed/?term=Fatigue%2C+wellbeing+and+parental+self-efficacy+in+mothers+of+children+with+an+Autism+Spectrum+Disorder

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Young Children With Autism Benefit Regardless of High-Quality Treatment Model

Published June 28, 2013 in Journal of Autism and Developmental Disorders

A UNC comparative efficacy study that compared the LEAP, TEACCH and Non-Model-Specific Special Education Programs found that young children who receive high-quality early intervention benefit developmentally regardless of the treatment model used.

http://www.ncbi.nlm.nih.gov/pubmed/23812661

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Comparative Efficacy of LEAP, TEACCH and Non-Model-Specific Special Education Programs for Preschoolers with Autism Spectrum Disorders

Published June 28, 2013 in Journal of Autism and Developmental Disorders

LEAP and TEACCH represent two comprehensive treatment models (CTMs) that have been widely used across several decades to educate young children with autism spectrum disorders. The purpose of this quasi-experimental study was to compare high fidelity LEAP (n = 22) and TEACCH (n = 25) classrooms to each other and a control condition (n = 28), in which teachers in high quality special education programs used non-model-specific practices. A total of 198 children were included in data analysis. Across conditions, children’s performances improved over time. This study raises issues of the replication of effects for CTMs, and whether having access to a high quality special education program is as beneficial as access to a specific CTM.

http://www.ncbi.nlm.nih.gov/pubmed/23812661

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Study Finds Hyperconnectivity in Certain Brain Regions in Individuals with Autism.

Published June 26, 2013 in JAMA Psychiatry

During a brain study, researchers found that individuals with autism have specific areas of hyperconnectivity in the brain. This supports the theory that unique autistic behaviors stem from differences in brain wiring.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1699377

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Crossed Eyes and Lazy Eyes Are Common In Children With Autism

Published June 21, 2013 in Strabismus

A small study sampling 52 patients with autism found that eye problems, such as crossed eyes and lazy eyes, are common in children with autism.

http://www.ncbi.nlm.nih.gov/pubmed/23713930

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Using Fluorescent Proteins, Scientists Find A New Way To Light Up Living Neurons for Research.

Published June 19, 2013 in Neuron

Scientists have found a new way to light up living cells for research. Using fluorescent proteins, scientists can reveal connections between neurons in the brain.

http://www.ncbi.nlm.nih.gov/pubmed/23791193

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Scientists Launch Large Brain Imaging Scan Database

Published June 18, 2013 in Molecular Psychiatry

Scientists create an accessible database of more than 1,000 brain scans of people with autism and controls. The database, called the Autism Brain Imaging Data Exchange (ABIDE), will help scientists share brain imaging data.

http://www.ncbi.nlm.nih.gov/pubmed/23774715

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Gluten Sensitivities May Cause GI Problems in Children with Autism

Published June 18, 2013 in PLoS One

A subset of children with autism displays increased immune reactivity to gluten, the mechanism of which appears to be distinct from that in celiac disease. The increased anti-gliadin antibody response and its association with GI symptoms points to a potential mechanism involving immunologic and/or intestinal permeability abnormalities in affected children.

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0066155

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Perinatal Exposure to Air Pollutants May Increase Risk for ASD.

Published June 18, 2013 in Environmental Health Perspectives

Study finds correlation that suggests that women who are exposed to high levels of air pollution during pregnancy have a higher chance of having a child with autism.

http://ehp.niehs.nih.gov/1206187/

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Voices May Not Trigger Brain’s Reward Centers in Children with ASD

Published June 17, 2013 in PNAS

This Stanford study identifies an underconnectivity between the voice-selective cortex and the reward centers in the brain. This could suggest why children with autism have trouble grasping the social and emotional aspects of human speech.

http://www.pnas.org/content/early/2013/06/12/1302982110

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Studies Show Key Steps of How Mutations to the MeCP2 Gene Cause Rett Syndrome

Published June 16, 2013 in Nature Neuroscience

Two collaborative papers reveal the key steps of how mutations to the MeCP2 gene cause Rett Syndrome by impairing the interaction between MeCP2 and the NCoR/SMRT co-repressor.

http://www.ncbi.nlm.nih.gov/pubmed/23770565

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Majority of Individuals with SHANK3 Gene Problems Have Both Autism and Severe Intellectual Disability

Published June 11, 2013 in Molecular Autism

Prospective study of 22q13 deletion syndrome and SHANK3 deficiency shows that the majority of individuals with a SHANK3 deficiency show both signs of autism and severe intellectual disability.

http://www.ncbi.nlm.nih.gov/pubmed/23758760

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First Prospective Study on the Effect of Shank3 Deficiency on Phelan-McDermid Syndrome

Published June 11, 2013 in Molecular Autism

ASF Scientific Advisory Board Member, Joe Buxbaum, directed the first prospective study on the effects of Shank3 deficiency on a subtype of autism called 22q13 Deletion Syndrome, also known as Phelan-McDermid Syndrome.

http://www.molecularautism.com/content/pdf/2040-2392-4-18.pdf

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A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities

Published June 7, 2013 in Environmental Health Perspectives

To begin formulation of a systematic strategy for discovery of potentially preventable environmental causes of autism and other NDDs, the Mount Sinai Childrens Environmental Health Center convened a workshop on Exploring the Environmental Causes of Autism and Learning Disabilities. This workshop produced a series of papers by leading researchers and generated a list of 10 chemicals and mixtures widely distributed in the environment that are already suspected of causing developmental neurotoxicity.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404655/

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Autism Affects Sexes Differently

Published June 7, 2013 in Brain

A Cambridge study that used brain imaging samples of individuals with autism, led by Dr. Simon Baron-Cohen, found evidence that autism affects sexes differently. The study showed that women who have the condition demonstrate neuroanatomical masculinization, which suggests that women with autism have more masculine brains. Dr. Baron-Cohen argues that this study reinforces that researchers “should not blindly assume that everything found in males with autism applies to females.”News Article: http://www.cambridge-news.co.uk/Education/Universities/Autism-affects-sexes-differently-20130809000647.htm

http://brain.oxfordjournals.org/content/early/2013/08/08/brain.awt216.abstract?sid=295e8193-4177-4f55-888c-db4c2457949b

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Two Studies Isolate Specific Brain Circuits That Underlie Compulsive Behaviors Seen in Individuals with OCD and Autism

Published June 7, 2013 in Science

Two studies successfully attempted to shut down and trigger compulsive behaviors in mice by using light to target certain brain circuits. These studies helped isolate the obsessive brain circuits believed to underlie compulsive behaviors in individuals with OCD and autism. 1) http://www.ncbi.nlm.nih.gov/pubmed/237449502) http://www.ncbi.nlm.nih.gov/pubmed/23744948

http://sfari.org/news-and-opinion/news/2013/researchers-reveal-obsession-circuits-in-the-brain#refs

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Ketogenic Diet Improves Multiple Autistic Behaviors in Mice

Published June 5, 2013 in PLOS One

A Trinity study saw improvements in multiple autistic behaviors in BTBR mice fed a ketogenic diet. The ketogenic diet provided to the mice is a strict high fat, low carbohydrate and protein diet that is commonly used to treat epilepsy.

http://www.plosone.org/article/info:doi%2F10.1371%2Fjournal.pone.0065021

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Study Shows 1/3 of All Children With Autism Have ADHD

Published June 5, 2013 in Kennedy Krieger Institute

During its study, the Kennedy Krieger Institute found that 1/3 of participants who have autism were also diagnosed with ADHD. This could suggest a genetic link between the two conditions.

http://aut.sagepub.com/content/early/2013/05/20/1362361312470494.abstract

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Working Memory Deficits in High-functioning Adolescents with Autism Spectrum Disorders: Neuropsychological and Neuroimaging correlate

Published June 4, 2013 in Journal of Autism and Developmental Disorders

This new review of neuropsychological and functional neuroimaging studies suggests that system specific problems of spatial working memory are often seen in adolescents with ASD. Additionally, researchers found that “neuroimaging studies indicate a more global working memory processing or connectivity deficiency, rather than a focused deficit in the prefrontal cortex.”

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674927/

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Decreased Amino Acid L-Tryptophan Metabolism In Patients With ASD

Published June 4, 2013 in Molecular Autism

The study found that individuals with ASD had significantly decreased metabolism of the amino acid L-Tryptophan compared to their control group and individuals with other neurodevelopmental disorders. This amino acid could be used as a potential indicator for a simple, early blood test for autism.

http://www.ncbi.nlm.nih.gov/pubmed/23731516

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FMR1 Knockout Mice Observed to have Hyperactive Neural Firing Rates

Published June 2, 2013 in Nature: Neuroscience

Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.

http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3415.html

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Brain Imaging Reveals Thicker Cortex with More Folds in Autism Brains

Published June 1, 2013 in Brain: A Journal of Neurology

Brain imaging study reveals individuals with autism have a ticker cortex with more folds. This suggests that differences in cognitive abilities of people with autism could be due to unique brain structures.

http://www.ncbi.nlm.nih.gov/pubmed/23678367

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Seaside Therapeutics Discontinues Arbaclofen (STX209) Extension Study

Published May 31, 2013 in The Boston Globe

Seaside Therapeutics has discontinued their extension study of Arbaclofen (STX209), a drug that showed promise in treating social impairment related to Fragile X syndrome.

http://www.bostonglobe.com/business/2013/05/30/cambridge-firm-autism-drug-fails-test-families-upset/mTOjxYyd67TI4jzg19K1iN/story.html

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Brain Responses to Words in 2-Year-Olds with Autism Predict Developmental Outcomes at Age 6

Published May 29, 2013 in PLoS ONE

Researchers have demonstrated that brain responses to words in children with autism at age two may strongly predict cognitive ability, receptive language and adaptive behavior in those children at ages 4 and 6.

www.plosone.org

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New Gene Variants Linked to Autism

Published May 28, 2013 in Nature

A new study using families from the Autism Genetic Resource Exchange (AGRE) finds that individuals with autism are 20% more likely to have copy-number variations of specific genes.

http://www.nature.com/tp/journal/v3/n5/full/tp201338a.html

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Early Signs Of Autism: Does My Toddler Have It?

Published May 24, 2013 in The Huffington Post

http://www.huffingtonpost.com/2013/05/24/early-signs-of-autism_n_3332215.html

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Brain Imaging Study Shows Decreased Production of Chemical Messenger GABA in Individuals with Autism

Published May 23, 2013 in Neuroimage

A new brain imaging study shows that children with autism have low levels of GABA, a chemical that keeps brain signals in check. This is the third study in two years that supports the theory of decreased production of GABA.

http://www.ncbi.nlm.nih.gov/pubmed/23707581

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Compared to What? Early Brain Overgrowth in Autism and the Perils of Population Norms

Published May 23, 2013 in Biological Psychiatry

A new report questions the evidence for atypical early brain growth in ASD, suggesting reports of abnormal head circumference (HC) growth may be due to a systematic bias in common HC norms rather than dysregulated early brain growth in ASD. The authors encourage future studies to use comparison data from typically developing and clinical control samples and several growth norms in parallel to avoid bias.

http://www.ncbi.nlm.nih.gov/pubmed/23706681

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SFARI Live DSM-5 Discussion: May 29 3pm ET

Published May 23, 2013 in SFARI

Simons Foundation will host a live DSM-5 roundtable discussion on May 29 at 3pm ET. The panelists, Dr. Thomas Insel, Dr. Cathy Lord and Dr. Helen Tager-Flusberg, will explore the new guidelines’ impact on autism diagnosis as well as on research. Listeners will have a chance to ask the panelists questions during the discussion.

https://cc.readytalk.com/cc/s/registrations/new?cid=hf1c35sa42fx

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Important Molecular Targets of the Autism-Linked RORA Gene Identified

Published May 22, 2013 in Molecular Autism

Scientists from George Washington University identified hundreds of molecular targets of the RORA gene. Of these molecular targets, 426 are linked to autism by the AutismKB database.

http://www.ncbi.nlm.nih.gov/pubmed/23697635

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Effects of Increased Development in Peripheral Vision on Children with Autism’s Reduced Ability to Make Eye Contact

Published May 22, 2013 in The European Journal of Neuroscience

In this study, children with ASD showed higher activity in the periphery of their visual field as compared to children without ASD. This higher activity and dependency on their peripheral vision could be explained by reduced ability early in life to control their eye movements.

http://www.ncbi.nlm.nih.gov/pubmed/23692590

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Increasing the Gut Bacteria In Mice That Lack Them Helps Increase Their Sociability with Familiar Mice

Published May 21, 2013 in Molecular Psychiatry

A new study finds that increasing the gut bacteria populations in mice that lack them helps to increase their sociability. The increase in sociability is mainly limited to familiar mice but the study does show support for the theory of a connection between the gut and autism in certain cases.

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201365a.html

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Environmental Enrichment as an Effective Treatment for Autism: A Randomized Controlled Trial

Published May 20, 2013 in Behavioral Neuroscience

Researchers at University of California Irvine conducted a randomized controlled trial of sensorimotor enrichment in young boys with ASD. Behavioral and cognitive improvements in the children who received sensorimotor therapy suggest that it may be a promising treatment for ASD symptoms. The group is now conducting a larger trial that includes girls.

http://www.apa.org/news/press/releases/2013/05/autism-treatment.aspx

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New DSM Brings Change, Assurances For Those With Autism

Published May 19, 2013 in Disability Scoop

With the release of the DSM-5 comes an updated definition of autism and a major change to the way it is diagnosed.

http://www.disabilityscoop.com/2013/05/17/new-dsm-change-assurances/17969/

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DSM-5: The Debate Continues

Published May 15, 2013 in Molecular Autism

The editors of Molecular Autism, Dr. Simon Baron-Cohen and ASF SAB member Dr. Joe Buxbaum, invited the labs of Dr. Cathy Lord and Dr. Fred Volkmar to offer their perspectives on the new DSM-5 criteria for the autism spectrum.Read Dr. Lord’s commentary here: http://www.molecularautism.com/content/pdf/2040-2392-4-12.pdfRead Dr. Volkmar’s commentary here: http://www.molecularautism.com/content/pdf/2040-2392-4-13.pdf

http://www.molecularautism.com/content/pdf/2040-2392-4-11.pdf

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Diagnosis of Toddlers with ASD supported by changes to symptom structure in DSM-5

Published May 13, 2013 in Journal of the American Academy of Child and Adolescent Psychiatry

A study in the Journal of the American Academy of Child and Adolescent Psychiatry analyzes the changes made to the DSM-5 in regards to autism symptom structure in toddlers with ASD. The DSM-5 model was found to be a superior fit to the data than other models used during toddler assessment.

http://www.jaacap.com/article/S0890-8567(13)00306-7/abstract

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Autism Matters Podcast Series

Published May 13, 2013 in Autism

The Autism Matters podcast series aims to showcase the latest research published in the journal Autism in a way that is accessible, easy to understand and has real world relevance. The podcasts are aimed at a broad audience, including academics, researchers, students, clinicians, journalists, policy makers, individuals with autism and their families, and anyone interested in autism spectrum disorders.

http://aut.sagepub.com/site/podcast/podcast_dir.xhtml

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Fragile X Mutation May Produce Toxic Protein Clumps That Cause FXTAS

Published May 8, 2013 in Neuron

University of Michigan study finds that a mild form of the fragile X mutation produces protein clumps that may trigger fragile X-associated tremor/ataxia.

http://www.ncbi.nlm.nih.gov/pubmed/23602499

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A Substantial and Unexpected Enhancement of Motion Perception in Autism

Published May 8, 2013 in Journal of Neuroscience

This new study found that children with autism see simple movement twice as quickly as other children their age.

http://www.jneurosci.org/content/33/19/8243.abstract?sid=b3767640-d45d-4226-a4ee-b182f6a93ea2

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Special Issue on: School-based Research of Autism Spectrum Disorders

Published May 1, 2013 in Autism

Autism Special Issue

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Preschool Based JASPER Intervention in Minimally Verbal Children with Autism: Pilot RCT

Published May 1, 2013 in Journal of Autism and Developmental Disorders

A recent pilot study linked the JASPER intervention (Joint Attention Symbolic Play Engagement and Regulation) to core deficit improvement in minimally verbal 3 to 5 year olds with autism.

http://www.ncbi.nlm.nih.gov/pubmed/22965298

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Excessive Cerebral Spinal Fluid and Enlarged Brain Size in Infants May Be a Potential Biomarker for Autism

Published April 29, 2013 in Brain: A Journal of Neurology

Researchers find that infants who later develop autism have more cerebral spinal fluid and larger brain sizes compared to typically developing infants. These differences could be a potential biomarker in infants for autism.

http://brain.oxfordjournals.org/content/early/2013/07/09/brain.awt166

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Social Participation Among Young Adults with an Autism Spectrum Disorder

Published April 25, 2013 in Journal of Autism and Developmental Disorders

In an attempt to raise awareness of the unique obstacles faced by young adults with ASD, researchers compared their social experiences with the experiences of young adults who received special education services for intellectual disability, emotional disturbance, or learning disability and found young adults with ASD experienced significantly more social isolation.

http://www.ncbi.nlm.nih.gov/pubmed/23615687

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SFARI: Studies Show Promise for Fragile X Treatment

Published April 25, 2013 in SFARI

http://sfari.org/news-and-opinion/news/2013/studies-show-promise-for-fragile-x-treatment

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Trophoblast Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for Autism

Published April 25, 2013 in Biological Psychiatry

Researchers at the Yale School of Medicine have figured out how to measure an infant’s risk of developing autism by looking for abnormalities in his/her placenta at birth, allowing for earlier diagnosis and treatment for the developmental disorder.

http://www.sciencedaily.com/releases/2013/04/130425091604.htm

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Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural Traits

Published April 23, 2013 in Molecular Psychiatry

This study suggests environmentally driven changes to the epigenome may contribute to the development of ASD and ASD-related behaviors. The study, which involved identical twins who were discordant for ASD and related traits, is the first large-scale examination of the role of genome-wide DNA methylation in ASD.

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201341a.html

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Abnormal Placenta Folds Could Be Indicator of Autism

Published April 22, 2013 in Biological Psychiatry

This study suggests that the placentas from women whose fetuses are at elevated risk for autism are markedly different from control placentas. Specifically, the identification of an increase in folds in the placenta could be used to identify children at risk of being autistic.

http://www.ncbi.nlm.nih.gov/pubmed/23623455

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Genetic Variations in Chromosome 16 Region Affect More Males with Autism Than Females

Published April 18, 2013 in PLoS One

London study finds a higher rate of gene variations in the chromosome 16 region in males with autism compared to females.

http://www.ncbi.nlm.nih.gov/pubmed/23637818

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Cognition and Behavior: ‘Mind blindness’ Has Brain Signature

Published April 13, 2013 in SFARI

Two recent studies have linked mind-blindness to atypical patterns of brain activity in people with ASD.

http://sfari.org/news-and-opinion/in-brief/2013/cognition-and-behavior-mind-blindness-has-brain-signature

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Live Chat with Dr. Simon Baron-Cohen

Published April 5, 2013 in ASF

Did you miss the live chat? Read the transcript here.

http://www.autismsciencefoundation.org/live-chat-scientists

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Fetal and Sociocultural Environments and Autism

Published April 1, 2013 in American Journal of Psychiatry

http://ajp.psychiatryonline.org/article.aspx?articleID=1674551

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Global Increases in Both Common and Rare Copy Number Load Associated with Autism

Published March 27, 2013 in Human Molecular Genetics

Penn State researchers link autism to increased genetic change in “hotspots”, regions of the genome that are highly susceptible to mutation.

http://hmg.oxfordjournals.org/content/early/2013/03/26/hmg.ddt136.abstract

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Special Report: Connectivity

Published March 25, 2013 in SFARI

This special report from the Simons Foundation looks at neural connectivity theories of autism.

http://sfari.org/news-and-opinion/specials/2013/connectivity/connectivity-special-report

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Autism Risk Across Generations A Population-Based Study of Advancing Grandpaternal and Paternal Age

Published March 20, 2013 in JAMA Psychiatry

Recently published in JAMA Psychiatry, this study put forth a new autism risk factor: advanced grandpaternal age. Compared to men who had children between 20 and 24, men who fathered a child at 50+ were 1-2 times more likely to have a grandchild with autism. The findings suggest some autism risk factors can accumulate over generations.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1666654

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Association of Maternal Exposure to Childhood Abuse With Elevated Risk for Autism in Offspring

Published March 20, 2013 in JAMA Psychiatry

This study examined the relationship between maternal childhood abuse and autism in children in a large population-based sample. Maternal abuse was significantly associated with increased autism risk even after researchers controlled for perinatal risk factors, including gestational diabetes, smoking during pregnancy, preeclampsia, exposure to intimate partner violence and premature birth.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1666655

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Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

Published March 16, 2013 in Journal of Autism and Developmental Disorders

With the number of people seeking ASD evaluations in adulthood on the rise, researchers sought to investigate how DSM-5 criteria would fare in a diagnostic clinic for adults with minimal intellectual disability. Compared to ICD-10R and DSM-IV-TR, DSM-5 specificity was good but sensitivity was poor: 44% of adults who met ICD-10R ASD criteria and 22% who met DSM-IV-TR criteria for Asperger syndrome or autistic disorder would not qualify for a DSM-5 ASD diagnosis.

http://link.springer.com/article/10.1007%2Fs10803-013-1799-6

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A Quantitative Link between Face Discrimination Deficits and Neuronal Selectivity for Faces in Autism

Published March 15, 2013 in NeuroImage: Clinical

In this fMRI study of adults with ASD, reduced neuronal selectivity for faces was linked to greater behavioral deficits in face recognition.

http://www.sciencedirect.com/science/article/pii/S221315821300017X

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Mother’s Drive Helps Research on Rare Autism-linked Mutation

Published March 14, 2013 in SFARI

A mother with two sons with autism helps advance research on neuroligin-4 mutations.

http://sfari.org/news-and-opinion/news/2013/mothers-drive-helps-research-on-rare-autism-linked-mutation

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Evaluating Changes in the Prevalence of the Autism Spectrum Disorders (ASDs)

Published March 14, 2013 in Public Health Reviews

In effort to stimulate more research to better understand ASD trends, ASF President Alison Singer and other stakeholders discuss the increase in ASD prevalence and share their knowledge and opinions.

http://www.publichealthreviews.eu/upload/pdf_files/12/00_Rice.pdf

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Mothers Fight to Pass Ava’s Law for Autism Coverage

Published March 12, 2013 in CNN

“If passed, Ava’s Law would require insurance companies to pay for “evidence-driven treatment” — or treatment that’s been scientifically shown to help kids with an autism spectrum disorder. The law would not affect the self-insured plans offered by bigger companies, which cover about 60% of insured people in the state, according to the Georgia Office of Insurance.”

http://www.cnn.com/2013/03/12/health/autism-insurance-coverage/index.html?hpt=hp_c3

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Individuals With Autism Have a Unique Gene Expression In Their Gastrointestinal Tissue.

Published March 8, 2013 in PLoS One

This Wake Forest Study compared the gene expression of gastrointestinal tissue in individuals with autism and compared it to individuals with Crohn’s Disease, ulcerative colitis and a control group. The study showed those with autism had a unique gene expression in their gastrointestinal tissue compared to the other groups studied.

http://www.ncbi.nlm.nih.gov/pubmed/23520485

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Increasing Exposure to Antibody-Stimulating Proteins and Polysaccharides in Vaccines Is Not Associated with Risk of Autism

Published March 6, 2013 in Journal of Pediatrics

This CDC study casts further doubt on the link between autism and vaccines. The study found no connection between the number of vaccines received and autism risk.

http://jpeds.com/webfiles/images/journals/ympd/JPEDSDeStefano.pdf

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Predictors of Phrase and Fluent Speech in Children With Autism and Severe Language Delay

Published March 4, 2013 in Pediatrics

Researchers at Kennedy Krieger examined prevalence and predictors of language attainment in severely language-delayed children with ASD. 70% of the sample attained phrase speech and 47% attained fluent speech at or after age 4, indicating that later gains in language are likely in toddlers with severely delayed language. Children with high nonverbal intelligence and high levels of social interest and engagement were most likely to attain language. ASD-related features such as repetitive and sensory behaviors were not associated with language attainment.

http://www.ncbi.nlm.nih.gov/pubmed/23460690

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Respite Care, Marital Quality, and Stress in Parents of Children with Autism Spectrum Disorders

Published March 1, 2013 in Journal of Autism and Developmental Disorders

In a new study looking at parents of children with ASD, researchers found that parents were less stressed and had improved marital quality with each hour of respite care received.

http://link.springer.com/article/10.1007/s10803-013-1812-0

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Is Medication Information for Children with Autism Spectrum Disorder Monitored and Coordinated Across Professionals? Findings from a Teacher Survey

Published March 1, 2013 in School Mental Health

This study examined school-based medication monitoring in children with ASD. Researchers found that less than half of teachers of medicated students were aware that students were taking medication and no teachers were communicating with prescribing physicians about student behavior and side effects. Since monitoring medication across settings helps physicians assess drug safety and effectiveness, the authors argue for increased communication among professionals.

http://link.springer.com/article/10.1007/s12310-012-9098-5

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Developmental trajectories in children with and without autism spectrum disorders: the first 3 years

Published March 1, 2013 in Child Development

"Retrospective studies indicate 2 major classes of autism spectrum disorder (ASD) onset: early and later, after a period of relatively healthy development. This prospective, longitudinal study examined social, language, and motor trajectories in 235 children with and without a sibling with autism, ages 6-36 months. Children were grouped as: ASD identified by 14 months, ASD […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=23110514

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Elevated Repetitive Behaviors are Associated with Lower Diurnal Salivary Cortisol Levels in Autism Spectrum Disorder

Published March 1, 2013 in Biological Psychiatry

This pilot study examined the relationship between repetitive behaviors (RBs) and cortisol, a hormone that is released in response to stress, in individuals with ASD. Multiple salivary cortisol samples were taken over three days for 21 children with ASD with high and low levels of RBs. Children in both groups showed the same pattern of cortisol change throughout the day, but the overall cortisol levels in the high RB group were significantly lower, suggesting RBs may work to soothe and decrease stress.

http://www.ncbi.nlm.nih.gov/pubmed/23466586

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Social Behaviors Increase in Children with Autism in the Presence of Animals Compared to Toys

Published February 27, 2013 in PLOS One

Children with ASD showed increased positive social behaviors in the presence of guinea pigs compared to toys in this new PLOS One study. Specifically, they showed more social approach behaviors (e.g. talking, looking at faces and making tactile contact) and positive affect (e.g. laughing and smiling), and less self-focused behaviors in the presence of animals.

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0057010

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SFARI Gene

Published February 21, 2013 in SFARI

SFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.

https://gene.sfari.org/autdb/Welcome.do

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Letting a Typical Mouse Judge Whether Mouse Social Interactions are Atypical

Published February 21, 2013 in Autism Research

This interesting preliminary study examined whether typical mice could recognize atypical social behavior in ASD mouse models. Wild-type mouse ‘judges’ preferred to be in chambers with other typical mice rather than socially atypical mice, suggesting that typical mice can distinguish mice displaying autism-like behavior from controls.

http://www.ncbi.nlm.nih.gov/pubmed/23436806?dopt=Abstract

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Examining and Interpreting the Female Protective Effect against Autistic Behavior

Published February 19, 2013 in Proceedings of the National Academy of Sciences

This study examined the hypothesis that a protective component of the female sex protects females from autistic behavioral impairment. The results indicate that greater familial risk may be associated with ASD in females, and males may require fewer familial risk factors to reach a similar impairment threshold. The authors hope the study will provide insight into the ASD sex ratio and aid future genetic research.

http://www.pnas.org/content/early/2013/02/13/1211070110.abstract

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Oxytocin and Vasopressin in Children and Adolescents With Autism Spectrum Disorders: Sex Differences and Associations With Symptoms

Published February 14, 2013 in Autism Research and Treatment

Following positive results of treatment studies using oxytocin (OT) and evidence of genetic variations in the OT-arginine vasopressin (AVP) pathway in individuals with ASD, a new study from UC Berkeley further examines the involvement of OT and AVP in ASD. Results suggest levels of OT in individuals with ASD may not be as low as previously believed. Moreover, the researchers found significant gender differences, including higher levels of OT in girls and higher levels of AVP in boys.

http://www.ncbi.nlm.nih.gov/pubmed/23413037

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Sex Differences in Autism Spectrum Disorders

Published February 13, 2013 in Current Opinion in Neurology

A review of current research shows that ASD affects females less frequently than males and suggests this difference may be due to several sex-differential genetic and hormonal factors.

http://www.ncbi.nlm.nih.gov/pubmed/23406909

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Autism Spectrum Disorder Is Associated with Ventricular Enlargement in a Low Birth Weight Population

Published February 13, 2013 in Journal of Pediatrics

This new study in the Journal of Pediatrics links ventricular enlargement in the brains of low-birth-weight neonates to ASD.

http://www.jpeds.com/article/S0022-3476%2812%2901573-9/abstract

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Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children

Published February 13, 2013 in Journal of the American Medical Association

The goal of this study was to determine the relationship between the use of prenatal folic acid supplements and presence of autism spectrum disorders in offspring. The study concluded that the use of prenatal folic acid supplements around the time fo conception was associated with a lower risk of autism spectrum disorders. These findings support […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=23403681

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Stem Cell Research Focusing on Autisms Genetic Mysteries Earns $2.125 Million Grant at Robert Wood Johnson Medical School

Published February 12, 2013 in Newswise

http://www.newswise.com/articles/stem-cell-research-focusing-on-autism-s-genetic-mysteries-earns-2-125-million-grant-at-robert-wood-johnson-medical-school

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Beyond Autism: A Baby Siblings Research Consortium Study of High-risk Children at Three Years of Age

Published February 8, 2013 in Journal of the American Academy of Child and Adolescent Psychiatry

This study is the first large-scale examination of ASD behavioral characteristics and developmental functioning in high-risk (HR), non-autistic 3-year-olds with siblings on the spectrum. 79% of HR children were either no different from low-risk children (LR; no known ASD family history) with respect to ASD behavioral severity and developmental functioning, or were developmentally on target with high levels of ASD-related behaviors. 21% of HR children with no ASD diagnosis had an “early manifestation” of a broad autism phenotype: high levels of ASD-related behaviors and/or low levels of verbal and nonverbal functioning. The authors highlight the importance of developmental surveillance and intervention for this HR subset.

http://www.ncbi.nlm.nih.gov/pubmed/23452686

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Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification

Published February 6, 2013 in Journal of the American Academy of Child & Pediatric Psychiatry

The age at which a child with autism is diagnosed is related to the particular suite of behavioral symptoms he or she exhibits, according to this study led by an ASF Grantee. Certain diagnostic features, including poor nonverbal communication and repetitive behaviors, were associated with earlier identification of an autism spectrum disorder. Displaying more behavioral features was also associated with earlier diagnosis.For more information about this study, read the guest blog from the lead author here: http://autismsciencefoundation.wordpress.com/2013/04/09/identifying-asd-in-community-settings/

http://www.jaacap.com/article/S0890-8567(13)00076-2/abstract

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Shortage Of Brain Tissue Hinders Autism Research

Published February 4, 2013 in NPR

http://www.npr.org/blogs/health/2013/02/04/170835708/shortage-of-brain-tissue-sets-autism-research-back

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Age of First Words Predicts Cognitive Ability and Adaptive Skills in Children with ASD

Published February 1, 2013 in Journal of Autism and Developmental Disorders

Producing words by 2 years of age strongly predicted better outcomes in this study of language acquisition and later functioning in children with ASD. The authors suggest that the “acquiring useful language by age 5” criterion for positive prognosis can be updated.

http://link.springer.com/article/10.1007/s10803-012-1558-0

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Familiarity Breeds Support: Speech-language Pathologists Perceptions of Bullying of Students with Autism Spectrum Disorders

Published January 31, 2013 in Journal of Communication Disorders

According to this study, school-based speech language pathologists may be an untapped resource in the fight against bullying of children with ASD.

http://www.sciencedirect.com/science/article/pii/S0021992413000038

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Study Pinpoints Autism Gene in Mutation-Prone Region

Published January 27, 2013 in Simons Foundation Autism Research Institute

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published in the Proceedings of the National Academy of Sciences. The 15q13.3 chromosomal region is a hotbed of tiny genetic deletions and duplications connected to disorders of brain development.

http://sfari.org/news-and-opinion/news/2014/study-pinpoints-autism-gene-in-mutation-prone-region

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Sequencing Studies Implicate Inherited Mutations in Autism

Published January 23, 2013 in SFARI

SFARI: Rare, inherited mutations contribute to a significant proportion of autism cases according to two new studies published in Neuron.

http://sfari.org/news-and-opinion/news/2013/sequencing-studies-implicate-inherited-mutations-in-autism

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Elevated Maternal C-reactive Protein and Autism in a National Birth Cohort

Published January 22, 2013 in Molecular Psychiatry

Large national birth cohort study links elevated maternal C-reactive protein (a marker of systemic inflammation) to increased autism risk.

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp2012197a.html

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Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates

Published January 22, 2013 in JAMA Psychiatry

Researchers found that estimates of the number of children with ASD might be lower using the current DSM-5 criteria than using the previous criteria. This study looked at information collected by CDCs Autism and Developmental Disabilities Monitoring (ADDM) Network. This is the first population-based study in the United States to look at what effect the updated ASD criteria in the DSM-5 might have on estimates of the number of children with ASD. One of the advantages of the ADDM Network method is that it does not rely solely on the presence of an ASD diagnosis, but also includes review of records for children who have behaviors consistent with ASDs, even if they do not have a diagnosis. Because of the way the ADDM Network collects data, in the future CDC will be able to use both the previous DSM-IV-TR and the current DSM-5 criteria to estimate the number of children with ASD. CDC will also continue to evaluate the effect of using the DSM-5 on trends in how doctors and other health professionals diagnose ASD and how service providers evaluate and document symptoms as they transition to using the new criteria.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1814891

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Electronic Medical Records May Reveal Subgroup of Autism

Published January 16, 2013 in Simons Foundation Autism Research Initiative

Some children diagnosed with autism may fall into distinct subgroups based on their symptoms and other diagnoses, researchers report in the January issue of Pediatrics. The three subgroups identified in the study show some overlap in symptoms, but each is characterized by a distinct set of features: seizures, general health problems such as gastrointestinal distress, and psychiatric problems. The analysis relied on the largest database yet, and looked at symptoms over time.

http://sfari.org/news-and-opinion/news/2014/electronic-medical-records-may-reveal-subgroups-of-autism

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Impaired Coordination of Brain Activity in Autism Involves Local, as Well as Long-Range, Signaling

Published January 14, 2013 in Science Daily

MEG study finds diminished long-range and local functional connectivity as individuals with ASD viewed faces. The study challenges the popular assumption that only long-range connectivity is reduced in ASD.

http://www.sciencedaily.com/releases/2013/01/130114153422.htm

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Study Shows Children with Autism only 10 Percent More Likely to be Using Complementary and Alternative Medicine

Published January 11, 2013 in Journal of Developmental and Behavioral Pediatrics

A new study from the Journal of Developmental and Behavioral Pediatrics looked at nearly 600 children with ASD and with developmental delays. 40 percent of the children with autism in the study were using complementary and alternative medicine (CAM). While this may seem like a high percentage, it is only ten percent higher than the rate of nonautistic children in the study using CAM. The most common forms of complementary treatments reported were dietary supplements.

http://journals.lww.com/jrnldbp/Abstract/2014/01000/Utilization_Patterns_of_Conventional_and.1.aspx

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Design of a Virtual Reality Based Adaptive Response Technology for Children with Autism

Published January 4, 2013 in IEEE Transactions on Neural Systems and Rehabilitation Engineering

Results from this preliminary study suggest that an interactive virtual reality game can improve social communication skills in teens with ASD.

http://www.ncbi.nlm.nih.gov/pubmed/23033333

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Autism Genetic Testing: A Qualitative Study of Awareness, Attitudes, and Experiences among Parents of Children with Autism Spectrum Disorders.

Published January 3, 2013 in Genetics in Medicine

This study provides insight into awareness, perspectives and experiences of ASD genetic testing among parents of autistic children.

http://www.ncbi.nlm.nih.gov/pubmed?term=23288207

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Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study

Published January 1, 2013 in Journal of Autism and Developmental Disorders

According to this study, DSM-IV-TR criteria capture more individuals with ASD and intellectual disability than DSM III criteria. The authors examined records from a statewide epidemiological study in the 80s and found that 59% of participants who were considered not autistic in the original study likely were autistic based on current DSM criteria and clinician review methods used in CDC studies.

http://www.ncbi.nlm.nih.gov/pubmed/22696195

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Meta-Analysis of The Effects of Risperidone or Aripiprazole on Individuals with ASD

Published January 1, 2013 in Research in Autism Spectrum Disorders

This study analyzes the efficacy and secondary effects of the drugs, Risperidone and Aripipazole.

http://www.sciencedirect.com/science/article/pii/S1750946712000943

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Effectiveness of developmental screening in an urban setting

Published January 1, 2013 in Pediatrics

The goal of this study was to determine whether developmental screening could aid identification of developmental delays, early intervention referrals, and eligibility for early intervention. The study concluded that children who received developmental screening tests were identified for developmental delays, early intervention referrals, and early intervention eligibility services in a more timely fashion than those […]

http://www.ncbi.nlm.nih.gov/pubmed/?term=23248223

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Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case Studies

Published January 1, 2013 in J Autism Dev Disord

In this study, functional magnetic resonance imaging was used to identify the neural correlates of successful response to Pivotal response treatment (PRT) in two young children with Autism Spectrum Disorder (ASD).

http://www.ncbi.nlm.nih.gov/pubmed/

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Why Are There So Many Unsubstantiated Treatments in Autism?

Published December 27, 2012 in Research in Autism Spectrum Disorders

An estimated 32-92% of parents use complementary/alternative treatments for their children with ASD despite the lack of scientific evidence for the efficacy of these methods. In this article, researchers issue a call for a standardized way to select and evaluate treatments. Barriers to successful treatment, including high costs, limited availability, parental compliance and poor recommendations from professionals are discussed.

http://www.sciencedirect.com/science/article/pii/S175094671200147X

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Physical Aggression in Children and Adolescents with Autism Spectrum Disorders

Published December 27, 2012 in Research in Autism Spectrum Disorders

The prevalence of physical aggression was 53% across a sample of nearly 1600 children and adolescents with ASD. Girls and boys were equally likely to display aggressive behaviors. The researchers suggest sleep problems, self-injury and sensory problems may increase risk for physical aggression, and argue for better identification and treatment of these conditions.

http://www.sciencedirect.com/science/article/pii/S1750946712001456

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IACC Chair and NIMH Director, Dr. Thomas Insel Discusses Autism Progress

Published December 26, 2012 in NIMH

http://www.nimh.nih.gov/about/director/2012/autism-progress.shtml

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Notable Papers of 2012

Published December 26, 2012 in SFARI

SFARI’s top ten autism research papers of 2012

http://sfari.org/news-and-opinion/specials/2012/2012-year-in-review-collection/notable-papers-of-2012/

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Developmental Meta-Analysis of the Functional Neural Correlates of Autism Spectrum Disorders

Published December 26, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry

According to this recent meta-analysis of fMRI studies, autism-related changes in brain activity may continue to develop with age.

http://www.jaacap.com/article/S0890-8567(12)00998-7/abstract

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Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Published December 21, 2012 in Cell

UCSD researchers suggest genes linked to autism have higher mutation rates than other genes.

http://www.cell.com/abstract/S0092-8674(12)01404-3

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

Published December 21, 2012 in PubMed

Data supports associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a ?-catenin-chromatin-remodeling network to ASD etiology.

http://www.ncbi.nlm.nih.gov/pubmed/23160955

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The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

Published December 20, 2012 in Neuron

Dr. Joseph Buxbaum and team discuss the current state of ASD gene discovery and the benefits of a genomic technology called high-throughput sequencing.

http://www.cell.com/neuron/retrieve/pii/S0896627312011142

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Genomic Technology Reveals Hundreds of Autism Gene Mutations

Published December 20, 2012 in Laboratory Equipment

ASF SAB member Dr. Joe Buxbaum on his new gene discoveries using high-throughput sequencing: “By identifying the many genetic roots of this disorder, we can better understand its biology, which in turn will allow us to develop more tailored treatments for individuals. It is a transformative time for genetic research in autism.”

http://www.laboratoryequipment.com/news/2012/12/genomic-technology-reveals-hundreds-autism-gene-mutations

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Controlled-Release Melatonin, Singly and Combined with Cognitive Behavioural Therapy, for Persistent Insomnia in Children with Autism Spectrum Disorders: a Randomized Placebo-Controlled Trial

Published December 12, 2012 in J Sleep Res

This study demonstrates that adding behavioural intervention to melatonin treatment seems to result in a better treatment response, at least in the short term.

http://www.ncbi.nlm.nih.gov/pubmed/

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FMRP Targets Distinct mRNA Sequence Elements to Regulate Protein Expression

Published December 12, 2012 in Nature

Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11737.html

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Prenatal Versus Postnatal Sex Steroid Hormone Effects on Autistic Traits in Children at 18 to 24 Months of Age

Published December 11, 2012 in Molecular Autism

Cambridge researchers are investigating the link between pre- and postnatal hormone levels and autistic traits later in life.

http://www.molecularautism.com/content/pdf/2040-2392-3-17.pdf

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Functional magnetic resonance imaging of autism spectrum disorders

Published December 10, 2012 in Dialogues in Clinical Neuroscience

Dr. Gabriel Dichter presents a new review of fMRI research in ASD, noting common themes of atypical activation and functional connectivity in the brain.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513685/

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Day and nighttime excretion of 6-sulphatoxymelatonin in adolescents and young adults with autistic disorder.

Published December 1, 2012 in PubMed

A deficit in melatonin production is present both at daytime and at nighttime in individuals with autism, particularly in the most severely affected individuals.

http://www.ncbi.nlm.nih.gov/pubmed/22613035

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Neonatal Levels of Cytokines and Risk of Autism Spectrum Disorders: An Exploratory Register-based Historic Birth Cohort Study Utilizing the Danish Newborn Screening Biobank

Published November 15, 2012 in Journal of Neuroimmunology

“The aim of the study was to analyze cytokine profiles in neonatal dried blood samples (n-DBSS) retrieved from The Danish Newborn Screening Biobank of children developing Autism Spectrum Disorders (ASD) later in life and controls. Samples of 359 ASD cases and 741 controls were analyzed using Luminex xMAP technology and clinical data were retrieved from nationwide registers. Findings showed that children developing ASD were more likely to have decreased levels of both T helper-1(Th-1)-like cytokines (i.e. IFN-?) and Th-2like cytokines (i.e. IL-4, IL-10) which may suggest a depressed or hypoactive immune cell activity during neonatal period in ASD.”

http://www.ncbi.nlm.nih.gov/pubmed/22917523

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Maternal Autism-Associated IgG Antibodies Delay Development and Produce Anxiety In A Mouse Gestational Transfer Model

Published November 15, 2012 in Journal of Neuroimmunology

“A murine passive transfer model system was employed to ascertain the effects of gestational exposure to a single, intravenous dose of purified, brain-reactive IgG antibodies from individual mothers of children with autism (MAU) or mothers with typically developing children (MTD). Growth and behavioral outcomes in offspring were measured from postnatal days 8 to 65 in each group. Comparisons revealed alterations in early growth trajectories, significantly impaired motor and sensory development, and increased anxiety. This report demonstrates for the first time the effects of a single, low dose gestational exposure of IgG derived from individual MAU on their offspring’s physical and social development.”

http://www.ncbi.nlm.nih.gov/pubmed/22951357

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Published November 15, 2012 in Science

De novo mutations in six genes may contribute to 1% of simplex ASD cases.

http://www.sciencemag.org/content/early/2012/11/14/science.1227764.abstract

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Early Behavioral Intervention is Associated with Normalized Brain Activity in Young Children with Autism.

Published November 11, 2012 in J Am Acad Child Adolesc Psychiatry

This report describes the the resulting EEG activity from randomized clinical trial. These clinical trial included a developmental behavioral intervention.

http://www.ncbi.nlm.nih.gov/pubmed/

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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Published October 19, 2012 in Science

A research team led by Gaia Novarino of the University of California, San Diego, has identified genetic mutations which cause a form of autism that could potentially be treated with dietary supplements.

http://www.ncbi.nlm.nih.gov/pubmed/22956686

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Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.

Published October 1, 2012 in PubMed

Results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

http://www.ncbi.nlm.nih.gov/pubmed/22930557

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Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: a Randomized, Controlled, Phase 2 Trial

Published September 19, 2012 in Sci Transl Med

Research on animal models of fragile X syndrome suggests that STX209, a GABA(B) agonist, might improve neuro-behavioral function in affected patients.

http://www.ncbi.nlm.nih.gov/pubmed/

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Predicting the Diagnosis of Autism Spectrum Disorder Using Gene Pathway Analysis

Published September 11, 2012 in Molecular Psychiatry

“The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. “

http://www.ncbi.nlm.nih.gov/pubmed/22965006

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Arboclofen Has Potential to Improve Social Function and Behavior in Patients with Fragile X Syndrome

Published September 9, 2012 in Science Translational Medicine

Research on animal models suggests that STX209 (arboclofen) might improve neurobehavioral function in patients affected with Fragile X Syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/22993294

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An Integrated Encyclopedia of DNA Elements in the Human Genome

Published September 6, 2012 in Nature

“The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation. The newly identified elements also show a statistical correspondence to sequence variants linked to human disease, and can thereby guide interpretation of this variation. Overall, the project provides new insights into the organization and regulation of our genes and genome, and is an expansive resource of functional annotations for biomedical research.”

http://www.ncbi.nlm.nih.gov/pubmed/22955616

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Autism-associated Promoter Variant in MET Gene Impacts Functional and Structural Brain Networks

Published September 6, 2012 in Neuron

The MET gene is shown to be a “potent modulator of key social brain circuitry in children and adolescents.” Researchers found that effects of high MET gene expression is more pronounced in individuals with ASD.

http://www.ncbi.nlm.nih.gov/pubmed/22958829

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Autism-associated promoter variant in MET impacts functional and structural brain networks.

Published September 6, 2012 in PubMed

Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.

http://www.ncbi.nlm.nih.gov/pubmed/22958829

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Fractionation of Social Brain Circuits in Autism Spectrum Disorders

Published September 1, 2012 in Brain

“Here, we evaluate the hypothesis that decreased connectivity in high-functioning adolescents with an autism spectrum disorder relative to typically developing adolescents is concentrated within domain-specific circuits that are specialized for social processing. Using a novel whole-brain connectivity approach in functional magnetic resonance imaging, we found that not only are decreases in connectivity most pronounced between regions of the social brain but also they are selective to connections between limbic-related brain regions involved in affective aspects of social processing from other parts of the social brain that support language and sensorimotor processes.”

http://www.ncbi.nlm.nih.gov/pubmed/22791801

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Blood-based Gene Expression Signatures of Infants and Toddlers with Autism.

Published September 1, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry

“OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample.”

http://www.ncbi.nlm.nih.gov/pubmed/22917206

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Autistic-like Behaviour and Cerebellar Dysfunction in Purkinje cell Tsc1 Mutant Mice.

Published August 30, 2012 in Nature

Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.

http://www.ncbi.nlm.nih.gov/pubmed/22763451

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Levels of Select PCB and PBDE Congeners in Human Postmortem Brain Reveal Possible Environmental Involvement in 15q11-q13 Duplication Autism Spectrum Disorder.

Published August 29, 2012 in Environmental and Molecular Genetics

These results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

http://onlinelibrary.wiley.com/doi/10.1002/em.21722/full

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Placental Regulation of Maternal-fetal Interactions and Brain Development

Published August 23, 2012 in Developmental Neurobiology

“A variety prenatal insults are associated with the incidence of neurodevelopmental disorders such as schizophrenia, autism and cerebral palsy. While the precise mechanisms underlying how transient gestational challenges can lead to later life dysfunctions are largely unknown, the placenta is likely to play a key role. The literal interface between maternal and fetal cells resides in the placenta, and disruptions to the maternal or intrauterine environment are necessarily conveyed to the developing embryo via the placenta. Placental cells bear the responsibility of promoting maternal tolerance of the semiallogeneic fetus and regulating selective permeability of nutrients, gases, and antibodies, while still providing physiological protection of the embryo from adversity. The placenta’s critical role in modulating immune protection and the availability of nutrients and endocrine factors to the offspring implicates its involvement in autoimmunity, growth restriction and hypoxia, all factors associated with the development of neurological complications. In this review, we summarize primary maternal-fetal interactions that occur in the placenta and describe pathways by which maternal insults can impair these processes and disrupt fetal brain development. We also review emerging evidence for placental dysfunction in the prenatal programming of neurodevelopmental disorders.”

http://www.ncbi.nlm.nih.gov/pubmed/22753006

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Rate of De Novo Mutations and the Importance of Fathers Age to Disease Risk

Published August 23, 2012 in Nature

The diversity in mutation rate of SNP’s is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year.

http://www.ncbi.nlm.nih.gov/pubmed/22914163

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Rate of de novo mutations and the importance of father’s age to disease risk.

Published August 23, 2012 in PubMed

These observations shed light on the importance of the father’s age on the risk of diseases such as schizophrenia and autism.

http://www.ncbi.nlm.nih.gov/pubmed/22914163

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Migration and autism spectrum disorder: population-based study.

Published August 1, 2012 in PubMed

Children of migrant parents may be at greater risk of low-functioning autism spectrum disorder, but lower risk of high-functioning autism spectrum disorder.

http://www.ncbi.nlm.nih.gov/pubmed/22361019

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The Complement System: An Unexpected Role in Synaptic Pruning During Development and Disease

Published July 31, 2012 in Annual Review of Neuroscience, Stephan, Barres, Stevens

Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.

http://www.ncbi.nlm.nih.gov/pubmed/22715882

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Modeling an Autism Risk Factor in Mice Leads to Permanent Immune Dysregulation

Published July 31, 2012 in Proceedings of the National Academy of Sciences

“Increasing evidence highlights a role for the immune system in the pathogenesis of autism spectrum disorder (ASD), as immune dysregulation is observed in the brain, periphery, and gastrointestinal tract of ASD individuals. Furthermore, maternal infection (maternal immune activation, MIA) is a risk factor for ASD. Modeling this risk factor in mice yields offspring with the cardinal behavioral and neuropathological symptoms of human ASD.”

http://www.ncbi.nlm.nih.gov/pubmed/22802640

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PCBs Identified as Possible Environmental Risk Factor Contributing to Autism

Published July 12, 2012 in Environmental Health Perspectives

Study identifies Polychlorinated Biphenyl (PCB), which are widely used as dielectric and coolant fluids, as a candidate environmental risk factor for neurodevelopmental disorders, including autism.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404670/

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The Role of the Amygdala In Atypical Gaze On Emotional Faces In Autism Spectrum Disorders

Published July 11, 2012 in Journal of Neuroscience

“Reduced focus toward the eyes is a characteristic of atypical gaze on emotional faces in autism spectrum disorders (ASD). Along with the atypical gaze, aberrant amygdala activity during face processing compared with neurotypically developed (NT) participants has been repeatedly reported in ASD. It remains unclear whether the previously reported dysfunctional amygdalar response patterns in ASD support an active avoidance of direct eye contact or rather a lack of social attention. Using a recently introduced emotion classification task, we investigated eye movements and changes in blood oxygen level-dependent (BOLD) signal in the amygdala with a 3T MRI scanner in 16 autistic and 17 control adult human participants. By modulating the initial fixation position on faces, we investigated changes triggered by the eyes compared with the mouth. Between-group interaction effects revealed different patterns of gaze and amygdalar BOLD changes in ASD and NT: Individuals with ASD gazed more often away from than toward the eyes, compared with the NT group, which showed the reversed tendency. An interaction contrast of group and initial fixation position further yielded a significant cluster of amygdala activity. Extracted parameter estimates showed greater response to eyes fixation in ASD, whereas the NT group showed an increase for mouth fixation. The differing patterns of amygdala activity in combination with differing patterns of gaze behavior between groups triggered by direct eye contact and mouth fixation, suggest a dysfunctional profile of the amygdala in ASD involving an interplay of both eye-avoidance processing and reduced orientation.”

http://www.ncbi.nlm.nih.gov/pubmed/22787032

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A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities

Published July 2, 2012 in Environmental Health Perspectives

It is intended to focus research in environmental causation of NDDs on a short list of chemicals where concentrated study has high potential to generate actionable findings in the near future. Its ultimate purpose is to catalyze new evidence-based programs for prevention of disease in Americas children.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404655/

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Tipping the balance of autism risk: potential mechanisms linking pesticides and autism.

Published July 1, 2012 in PubMed

In animal studies, we encourage more research on gene environment interactions, as well as experimental exposure to mixtures of compounds. Similarly, epidemiologic studies in humans with exceptionally high exposures can identify which pesticide classes are of greatest concern, and studies focused on gene environment are needed to determine if there are susceptible subpopulations at greater risk from pesticide exposures.

http://www.ncbi.nlm.nih.gov/pubmed/22534084

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Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study.

Published July 1, 2012 in PubMed

Folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted.

http://www.ncbi.nlm.nih.gov/pubmed/22648721

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A Stable Pattern of EEG Spectral Coherence Distinguishes Children with Autism From Neuro-typical Controls – A Large Case Control Study

Published June 26, 2012 in BMC Medicine

“BACKGROUND: The autism rate has recently increased to 1 in 100 children. Genetic studies demonstrate poorly understood complexity. Environmental factors apparently also play a role. Magnetic resonance imaging (MRI) studies demonstrate increased brain sizes and altered connectivity. Electroencephalogram (EEG) coherence studies confirm connectivity changes. However, genetic-, MRI- and/or EEG-based diagnostic tests are not yet available. The varied study results likely reflect methodological and population differences, small samples and, for EEG, lack of attention to group-specific artifact.RESULTS: Total sample PCA [principal components analysis] of coherence data identified 40 factors which explained 50.8% of the total population variance. For the 2- to 12-year-olds, the 40 factors showed highly significant group differences (P < 0.0001). Ten randomly generated split half replications demonstrated high-average classification success (C, 88.5%; ASD, 86.0%). Still higher success was obtained in the more restricted age sub-samples using the jackknifing technique: 2- to 4-year-olds (C, 90.6%; ASD, 98.1%); 4- to 6-year-olds (C, 90.9%; ASD 99.1%); and 6- to 12-year-olds (C, 98.7%; ASD, 93.9%). Coherence loadings demonstrated reduced short-distance and reduced, as well as increased, long-distance coherences for the ASD-groups, when compared to the controls. Average spectral loading per factor was wide (10.1 Hz)."

http://www.ncbi.nlm.nih.gov/pubmed/22730909

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Brain Imaging Study Suggests Autism and Asperger’s Syndrome May Be Biologically Distinct Conditions

Published June 26, 2012 in BMC Medicine

A brain imaging study out of Boston Children’s Hospital suggests that autism and Asperger’s syndrome are biologically distinct conditions. The study analyzes the patterns of brain connectivity in children with ASD and found that children with autism might have distinct neural signaling patterns. This study follows the release of the APA’s new DSM-5 that classifies Asperger’s under an umbrella diagnosis of ASD.News Article: http://www.medicaldaily.com/aspergers-syndrome-and-autism-are-biologically-distinct-according-new-brain-study-video-249255

http://www.biomedcentral.com/1741-7015/10/64

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Developmental Trajectories of Resting EEG Power: an Endophenotype of Autism Spectrum Disorder.

Published June 20, 2012 in PLoS One, Tierney, Gabard-Durnam, Vogel-Farley, Tager-Flusberg, Nelson

Differences in the nature of the trajectories of EEG power represent important endophenotypes of ASD.

http://www.ncbi.nlm.nih.gov/pubmed/22745707

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Structure, Function and Diversity of The Healthy Human Microbiome

Published June 13, 2012 in Nature

“Studies of the human microbiome have revealed that even healthy individuals differ remarkably in the microbes that occupy habitats such as the gut, skin and vagina. Much of this diversity remains unexplained, although diet, environment, host genetics and early microbial exposure have all been implicated. Accordingly, to characterize the ecology of human-associated microbial communities, the Human Microbiome Project has analysed the largest cohort and set of distinct, clinically relevant body habitats so far. We found the diversity and abundance of each habitat’s signature microbes to vary widely even among healthy subjects, with strong niche specialization both within and among individuals. The project encountered an estimated 81-99% of the genera, enzyme families and community configurations occupied by the healthy Western microbiome. Metagenomic carriage of metabolic pathways was stable among individuals despite variation in community structure, and ethnic/racial background proved to be one of the strongest associations of both pathways and microbes with clinical metadata. These results thus delineate the range of structural and functional configurations normal in the microbial communities of a healthy population, enabling future characterization of the epidemiology, ecology and translational applications of the human microbiome.”

http://www.ncbi.nlm.nih.gov/pubmed/22699609

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Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism Spectrum Disorders

Published June 1, 2012 in Cerebral Cortex

“The purpose of this study was to examine the relationship between language pathways and autism spectrum disorders (ASDs) in patients with tuberous sclerosis complex (TSC). “

http://www.ncbi.nlm.nih.gov/pubmed/22661408

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Genetic Architecture in Autism Spectrum Disorder.

Published June 1, 2012 in Current Opinion in Genetics and Development

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

http://www.ncbi.nlm.nih.gov/pubmed/22463983

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A Randomized Controlled Pilot Trial of Oral N-Acetylcysteine in Children with Autism.

Published June 1, 2012 in Biol Psychiatry

The goal of this pilot study was to assess the feasibility of using oral N-acetylcysteine (NAC), a glutamatergic modulator and an antioxidant, in the treatment of behavioral disturbance in children with autism.

http://www.ncbi.nlm.nih.gov/pubmed/

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Maternal Periconceptional Folic Acid Intake and Risk of Autism Spectrum Disorders and Developmental Delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Case-control Study.

Published May 30, 2012 in American Journal of Clinical Nutrition

Maternal periconceptional folic acid intake may reduce ASD risk in those with inefficient folate metabolism

http://ajcn.nutrition.org/content/96/1/80.short

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Microglia Sculpt Postnatal Neural Circuits in an Activity and Complement-dependent Manner

Published May 24, 2012 in Neuron

This article demonstrated that microglia, immune cells of the brain and spinal cord, have a role in reshaping the connections between cells during postnatal development.

http://www.ncbi.nlm.nih.gov/pubmed/*

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A Common X-linked Inborn Error of Carnitine Biosynthesis May be a Risk Factor for Nondysmorphic Autism.

Published May 22, 2012 in Proceedings of the National Academy of Sciences of the United States of America

These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

http://www.ncbi.nlm.nih.gov/pubmed/?term=A+common+X-linked+inborn+error+of+carnitine+biosynthesis+may+be+a+risk+factor+for+nondysmorphic+autism.

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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Published May 22, 2012 in PubMed

Data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

http://www.ncbi.nlm.nih.gov/pubmed/22566635

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The Genetic Variability and Commonality of Neurodevelopmental Disease

Published May 15, 2012 in American Journal of Medical Genetics; Part C, Seminars in Medical Genetics

Copy Number Variations suggest that the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes

http://www.ncbi.nlm.nih.gov/pubmed/?term=The+genetic+variability+and+commonality+of+neurodevelopmental+disease

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Derivation of Autism Spectrum Disorder-specific Induced Pluripotent Stem Cells from Peripheral Blood Mononuclear Cells

Published May 10, 2012 in Neuroscience Letters

“Induced pluripotent stem cells (iPSCs) hold tremendous potential both as a biological tool to uncover the pathophysiology of disease by creating relevant cell models and as a source of stem cells for cell-based therapeutic applications. Typically, iPSCs have been derived by the transgenic overexpression of transcription factors associated with progenitor cell or stem cell function in fibroblasts derived from skin biopsies. However, the need for skin punch biopsies to derive fibroblasts for reprogramming can present a barrier to study participation among certain populations of individuals, including children with autism spectrum disorders (ASDs). In addition, the acquisition of skin punch biopsies in non-clinic settings presents a challenge. One potential mechanism to avoid these limitations would be the use of peripheral blood mononuclear cells (PBMCs) as the source of the cells for reprogramming. In this article we describe, for the first time, the derivation of iPSC lines from PBMCs isolated from the whole blood of autistic children, and their subsequent differentiation in GABAergic neurons.”

http://www.ncbi.nlm.nih.gov/pubmed/22405972

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Advancing maternal age is associated with increasing risk for autism: a review and meta-analysis.

Published May 1, 2012 in PubMed

Results of this meta-analysis support an association between advancing maternal age and risk of autism. The RR increased monotonically with increasing maternal age. The association persisted after the effects of paternal age and other potential confounders had been considered, supporting an independent relation between higher maternal age and autism.

http://www.ncbi.nlm.nih.gov/pubmed/22525954

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Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders.

Published May 1, 2012 in PubMed

Maternal MCs may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.

http://www.ncbi.nlm.nih.gov/pubmed/22492772

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Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.

Published April 29, 2012 in PubMed

It is proposed that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype.

http://www.ncbi.nlm.nih.gov/pubmed/22699619

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De Novo Gene Disruptions in Children on the Autistic Spectrum.

Published April 26, 2012 in Neuron

FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.

http://www.ncbi.nlm.nih.gov/pubmed/22542183

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Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

Published April 25, 2012 in Science Translational Medicine

Using a mouse model with behaviors relevant to the three diagnostic behavioral symptoms of autism, researchers used a genetic approach to reduce repetitive behaviors and partially reverse the striking lack of sociability in these mice.

http://www.ncbi.nlm.nih.gov/pubmed/?term=Negative+allosteric+modulation+of+the+mGluR5+receptor+reduces+repetitive+behaviors+and+rescues+social+deficits+in+mouse+models+of+autism

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Tune in Tomorrow for Live Chats with Dr. David Amaral and Dr. Jill Locke

Published April 18, 2012 in ASF

autismsciencefoundation.org/live-chat-scientists

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Sporadic Autism Exomes Reveal a Highly Interconnected Protein Network of De Novo Mutations

Published April 4, 2012 in Nature

Researchers demonstrate that de-novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350576/

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Patterns and Rates of Exonic De Novo Mutations in Autism Spectrum Disorders

Published April 4, 2012 in Nature

Results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613847/

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Published April 4, 2012 in PubMed

Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, ? subunit), a result that is highly unlikely by chance.

http://www.ncbi.nlm.nih.gov/pubmed/22495306

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Published April 4, 2012 in PubMed

Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.

http://www.ncbi.nlm.nih.gov/pubmed/22495309

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Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Published April 4, 2012 in PubMed

Control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.

http://www.ncbi.nlm.nih.gov/pubmed/22495311

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Published April 1, 2012 in PubMed

Findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

http://www.ncbi.nlm.nih.gov/pubmed/21996756

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The Geometric Structure of the Brain Fiber Pathways

Published March 30, 2012 in Science

Using diffusion magnetic resonance imaging, researchers found cerebral fiber pathways formed a rectilinear three-dimensional grid and Cortico-cortical pathways formed parallel sheets of interwoven paths in four nonhuman primate species and in humans.

http://www.ncbi.nlm.nih.gov/pubmed/22461612

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CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics.

Published March 16, 2012 in Cell

A proportion of risk for schizophrenia, bipolar disorder, and autism can be explained by rare mutations. Alleles can have specific effects on behavioral and neuroanatomical traits; however, expressivity is variable, particularly for neuropsychiatric phenotypes

http://www.sciencedirect.com/science/article/pii/S0092867412002772

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Published March 16, 2012 in PubMed

CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole-genome sequencing.

http://www.ncbi.nlm.nih.gov/pubmed/22424231

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Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities.

Published March 1, 2012 in Cold Spring Harb Perspect Biol

The human studies unveiled the sensitivity of cognitive function to precise levels of different proteins.

http://www.ncbi.nlm.nih.gov/pubmed/22258914

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Infant Neural Sensitivity to Dynamic Eye Gaze Is Associated With Later Emerging Autism

Published February 21, 2012 in Current Biology

“Autism spectrum disorders (henceforth autism) are diagnosed in around 1% of the population [1]. Familial liability confers risk for a broad spectrum of difficulties including the broader autism phenotype (BAP) [2, 3]. There are currently no reliable predictors of autism in infancy, but characteristic behaviors emerge during the second year, enabling diagnosis after this age [4, 5]. Because indicators of brain functioning may be sensitive predictors, and atypical eye contact is characteristic of the syndrome [6-9] and the BAP [10, 11], we examined whether neural sensitivity to eye gaze during infancy is associated with later autism outcomes [12, 13]. We undertook a prospective longitudinal study of infants with and without familial risk for autism. At 6-10 months, we recorded infants’ event-related potentials (ERPs) in response to viewing faces with eye gaze directed toward versus away from the infant [14]. Longitudinal analyses showed that characteristics of ERP components evoked in response to dynamic eye gaze shifts during infancy were associated with autism diagnosed at 36 months. ERP responses to eye gaze may help characterize developmental processes that lead to later emerging autism. Findings also elucidate the mechanisms driving the development of the social brain in infancy.”

http://www.ncbi.nlm.nih.gov/pubmed/22285033

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Genetic and Functional Analyses of SHANK2 Mutations Suggest A Multiple Hit Model of Autism Spectrum Disorders

Published February 1, 2012 in PLOS Genetics

“Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n?=?396 patients and n?=?659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P?=?0.004, OR?=?2.37, 95% CI?=?1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P?=?0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.”

http://www.ncbi.nlm.nih.gov/pubmed/22346768

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Do Sheltered Workshops Enhance Employment Outcomes for Adults with Autism Spectrum Disorder?

Published May 24, 2011 in Autism

Researchers sought to determine if sheltered workshops help prepare individuals with ASD for competitive employment and found that individuals with ASD achieve better vocational outcomes if they do not participate in sheltered workshops prior to enrolling in supported employment.

http://aut.sagepub.com/content/16/1/87.abstract

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The genetic variability and commonality of neurodevelopmental disease.

Published May 15, 2010 in PubMed

Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways.

http://www.ncbi.nlm.nih.gov/pubmed/22499536

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2007 Summary of Advances in Autism Spectrum Disorders Research

Published July 15, 2008 in Interagency Autism Coordinating Committee

For individuals and families affected by ASD, the most meaningful research findings may be ones that address six critical questions they face: When should I be concerned? How can I understand what is happening? What caused this to happen, and can this be prevented? Which treatments and interventions will help? Where can I turn for […]

https://iacc.hhs.gov/publications/summary-of-advances/2007/summary_of_advances_2007.pdf

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