Research by Topic: Screening

Podcast: The sticky subject of cost-effectiveness

Published May 21, 2018

On this week’s podcast, Dr. Tracy Yuen of University of Toronto and the Hospital for Sick Children explains two different analyses of cost-effectiveness which looked at 1) universal screening for ASD and 2) use of genomic sequencing to identify novel variants in people with ASD.

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ASF co-hosts the 2nd environmental epigenetic of autism research webinar

Published March 7, 2016

On Thursday, ASF, the Escher Fund for Autism and Autism Speaks co-organized the second in a series of webinars on environmental epigenetics.  These webinars are open to the public and provide discussions on the role of gene/environment interactions in autism led by leading researchers in the field.  This month, the presentations were given by Dr. […]

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ASF responds to the USPSTF final recommendations on universal screening

Published February 16, 2016

Universal early screening for autism is highly effective in identifying children who have autism, and early intervention is critical to ensure optimal outcomes for children with autism. Earlier today, we were disappointed to hear that the USPSTF released a final recommendation of “insufficient evidence” with regards to the benefits of universal screening in producing better […]

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Deadline for comments on US Preventative Services Task Force screening of autism in young children

Published August 9, 2015

The US Preventative Services Task Force announces comment period for their draft recommendation. Submit your comments by August 31, 2015 at http://www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryDraft/autism-spectrum-disorder-in-young-children-screening

Deadline for comments on US Preventative Services Task Force screening of autism in young children

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ASF, Autism Speaks and the American Academy of Pediatrics respond to U.S. Preventive Services Task Force draft recommendations on screening for ASD.

Published August 3, 2015

At a time when 1 in 68 children is diagnosed with autism, early identification, diagnosis and treatment is crucial to give children the best opportunity to reach their full potential. The ambiguity of the statement offered by the US Preventative Services Task Force (USPSTF) on autism screening is troubling and unfortunately, may be easily misinterpreted. While the task force does not explicitly recommend against screening for autism, they state there is insufficient evidence to support autism-specific screening in clinical settings. Instead, they have called for more research in this area.As a result, the task force has failed to fully endorse screening despite an abundance of research that demonstrates it is effective in a variety of settings1-3, leads to earlier identification of autism4, and that this earlier identification provides opportunities for early intervention which improves the lives of children with autism5. Research has demonstrated that formal screening is more effective than relying on clinician judgement alone1,6. This is especially important in reducing racial and ethnic disparities in access to care7,8 Moreover, screening is quick, affordable and has no substantial risk. We intend to review the USPSTF report and its methodology to understand why it differs from other evidence-based recommendations from the American Academy of Pediatrics and from experts in the field of autism spectrum disorders. Every child deserves an early, accurate diagnosis and we are hopeful that after the review period the USPSTF reconsider their conclusions. You can read more about the recommendations and response here.There are a number of world renowned autism researchers who agree with this position. They include:Bryan King, Seattle Childrens HospitalAmi Klin, Emory UniversityDiana Robins, Drexel UniversityCeline Saulnier, Emory UniversityRobins DL. Screening for autism spectrum disorders in primary care settings. Autism : the international journal of research and practice. 2008;12(5):537-556.Miller JS, Gabrielsen T, Villalobos M, et al. The each child study: systematic screening for autism spectrum disorders in a pediatric setting. Pediatrics. 2011;127(5):866-871.Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133(1):37-45.Herlihy LE, Brooks B, Dumont-Mathieu T, et al. Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers. Journal of developmental and behavioral pediatrics : JDBP. 2014;35(2):85-92.Pierce K, Carter C, Weinfeld M, et al. Detecting, studying, and treating autism early: the one-year well-baby check-up approach. The Journal of pediatrics. 2011;159(3):458-465 e451-456.Wetherby AM, Brosnan-Maddox S, Peace V, Newton L. Validation of the Infant-Toddler Checklist as a broadband screener for autism spectrum disorders from 9 to 24 months of age. Autism : the international journal of research and practice. 2008;12(5):487-511.Khowaja MK, Hazzard AP, Robins DL. Sociodemographic Barriers to Early Detection of Autism: Screening and Evaluation Using the M-CHAT, M-CHAT-R, and Follow-Up. Journal of autism and developmental disorders. 2015;45(6):1797-1808.Daniels AM, Halladay AK, Shih A, Elder LM, Dawson G. Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature. Journal of the American Academy of Child and Adolescent Psychiatry. 2014;53(2):141-152.

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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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Ad Campaign Uses New Approach to Promote Early Autism Recognition in African-American and Hispanic Families

Published May 20, 2013 in The New York Times

http://www.nytimes.com/2013/05/21/business/media/aiming-autism-ads-at-hispanic-and-african-american-parents.html?pagewanted=all&_r=1

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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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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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Decreased Spontaneous Attention to Social Scenes in 6-Month-Old Infants Later Diagnosed with Autism Spectrum Disorders

Published January 14, 2013 in Biological Psychiatry

Yale researchers used eye-tracking technology to examine social monitoring skills of infants at high and low risk for autism. Compared to infants who developed typically, six-month olds later diagnosed with ASD looked less at the social scene, which involved a woman engaged in various activities. When they did attend to the social scene, they spent less time viewing the womans face.

http://www.biologicalpsychiatryjournal.com/article/S0006-3223(12)01030-X/abstract

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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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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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Prevalence and Correlates of Autism in a State Psychiatric Hospital

Published November 15, 2012 in Autism

This study estimated the ASD prevalence in a psychiatric hospital and evaluated the Social Responsiveness Scale (SRS) combined with other information for differential diagnosis. Undiagnosed ASD may be common in psychiatric hospitals. The SRS, combined with other information, may discriminate well between ASD and other disorders.

http://aut.sagepub.com/content/16/6/557.abstract

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Diagnosing Autism in Neurobiological Research Studies

Published November 12, 2012 in Behavioural Brain Research

This review by Catherine Lord and Rebecca Jones looks at common tools and best practices for ASD diagnosis in research settings.

http://www.ncbi.nlm.nih.gov/pubmed/23153932

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New Rules Allow Joint Diagnosis of Autism, Attention Deficit

Published October 25, 2012 in SFARI

Autism and ADHD diagnoses will no longer be mutually exclusive under proposed DSM-5 guidelines. Clinicians will be permitted to make official dual diagnoses when necessary.

http://sfari.org/news-and-opinion/news/2012/new-rules-allow-joint-diagnosis-of-autism-attention-deficit

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The Development of Referential Communication and Autism Symptomatology in High-Risk Infants

Published October 1, 2012 in Infancy

This study suggests that non-verbal communication delays in infants with autistic siblings can predict later ASD symptoms.For a Science Daily article on this paper, click here: http://www.sciencedaily.com/releases/2012/10/121001124802.htm

http://onlinelibrary.wiley.com/doi/10.1111/j.1532-7078.2012.00142.x/abstract

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Cognition and behavior: Fragile X Carriers Show Autism Signs

Published July 27, 2012 in Simons Foundation Austism Research Initiative

According to a study published in the American Journal of Medical Genetics, Women who have a milder version of the fragile X mutation, which can lead to the full mutation in their children, have some features of autism.

http://sfari.org/news-and-opinion/in-brief/2012/cognition-and-behavior-fragile-x-carriers-show-autism-signs

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Gauging seizures severity

Published April 30, 2012 in MITnews

Simple wrist sensors let neurologists collect better data about patients with epilepsy and could alert patients that they need to seek medical care.

http://web.mit.edu/newsoffice/2012/seizure-wrist-sensor-0427.html#.T53hCS6KdVA.gmail

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New Clinical Study Evaluates First Drug to Show Improvement in Subtype of Autism

Published April 26, 2012 in EurekAlert

In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).

New clinical study evaluates first drug to show improvement in subtype of autism

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Autism science is moving ‘stunningly fast’

Published April 10, 2012 in USA Today

Researchers today also say they’re beginning to make progress, perhaps for the first time, in understanding the autistic brain.

Autism science is moving 'stunningly fast'

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What to Make of the New Autism Numbers

Published April 9, 2012 in Time Magazine

Evidence shows an increased number of autism diagnoses. There is the possibility that the increase in cases is entirely the result of better detection. Scientists must work to uncover the truth.

What to Make of the New Autism Numbers Read more: http://ideas.time.com/2012/04/06/what-to-make-of-the-new-autism-numbers/#ixzz1rZGKZTST

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Gene Studies of Autism Point to Mutations and Parents Age

Published April 4, 2012 in New York Times

Three teams of scientists working independently to understand the biology of autism have for the first time homed in on several gene mutations that they agree sharply increase the chances that a child will develop the disorder, and have found further evidence that the risk increases with the age of the parents, particularly the father.

http://www.nytimes.com/2012/04/05/health/research/scientists-link-rare-gene-mutations-to-heightened-risk-of-autism.html?hp

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IACC Releases Its 2011 Summary of Advances in Autism Spectrum Disorder Research

Published April 2, 2012 in IACC

On April 2, in honor of the fifth annual World Autism Awareness Day and HHS Autism Awareness Month the IACC has released its annual list of scientific advances that represent significant progress in the field.

IACC Releases Its 2011 Summary of Advances in Autism Spectrum Disorder Research

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Prevalence of Autism Spectrum Disorders Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008

Published March 29, 2012 in MMWR (CDC)

Full text of today’s CDC report indicating 1 in 88 children is now diagnosed with an autism spectrum disorder.

http://www.cdc.gov/mmwr/preview/mmwrhtml/ss6103a1.htm?s_cid=ss6103a1_e

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Newly Published Genetics/Brain Tissue Study Will Help Refine the Search for Specific Early Genetic Markers of Risk of Autism in Babies and Toddlers

Published March 22, 2012 in PLoS Genetics

A new study of autism published today in PLoS Genetics has discovered abnormal gene activity and gene deletions in the same brain region that also has a 67% overabundance of brain cells. This region the prefrontal cortexis involved in social, emotional, communication and language skills. The finding brings new understanding of what early genetic abnormalities lead to excess brain cells and to the abnormal brain wiring that cause core symptoms in autism. Importantly, the study also shows that gene activity abnormalities in autism change across the lifespan.

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New Autism Research Reveals Brain Differences at 6 Months in Infants Who Develop Autism

Published February 17, 2012 in Center for Autism Research at The Children's Hospital of Philadelphia (CHOP)

A new study from the Infant Brain Imaging Network, which includes researchers at the Center for Autism Research at The Children’s Hospital of Philadelphia (CHOP), found significant differences in brain development starting at age 6 months in high-risk infants who later develop autism, compared to high-risk infants who did not develop autism.

http://www.marketwatch.com/story/new-autism-research-reveals-brain-differences-at-6-months-in-infants-who-develop-autism-2012-02-17

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Toward Brief Red Flags for Autism Screening: The Short Autism Spectrum Quotient and the Short Quantitative Checklist for Autism in Toddlers in 1,000 Cases and 3,000 Controls

Published February 1, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry

Ten items were taken from the Autism Spectrum Quotient (AQ) and the Quantitative Checklist for Autism in Toddlers (Q-CHAT) to develop brief screening tools for ASD. Researchers hope these new measures will help doctors decide whether to refer families for full diagnostic assessments.

http://www.ncbi.nlm.nih.gov/pubmed/22265366

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In the Brain, Signs of Autism as Early as 6 Months Old

Published January 30, 2012 in Science Daily

Measuring brain activity in infants as young as six months may help to predict the future development of autism symptoms.

In the Brain, Signs of Autism as Early as 6 Months Old

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Automated Imaging Inroduced To Greatly Speed Whole-Brain Mapping Efforts

Published January 17, 2012 in Medical News Today

A new technology developed by neuroscientists at Cold Spring Harbor Laboratory (CSHL) transforms the way highly detailed anatomical images can be made of whole brains.

Automated Imaging Inroduced To Greatly Speed Whole-Brain Mapping Efforts

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67% More Prefrontal Brain Neurons In Children With Autism

Published November 8, 2011 in Medical News Today

A small study found that male children with autism had larger brain weights and 67% more prefrontal brain neurons than children without autism.

http://www.medicalnewstoday.com/articles/237224.php

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Association Between Behavioral Features and Gastrointestinal Problems Among Children with Autism Spectrum Disorder

Published October 25, 2011 in Journal of Autism and Developmental Disorders - Maenner, M.J. et al.

Recent reports suggest certain behaviors among children with autism spectrum disorders (ASD) may indicate underlying gastro-intestinal (GI) problems, and that the presence of these behaviors may help alert primary care providers to the need to evaluate a child with ASD for GI problems. The purpose of this population-based study of 487 children with ASD, including […]

http://www.springerlink.com/content/b23217521067w850/

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University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children.

Published October 22, 2011 in Medical News Today

The face and brain develop in coordination, with each influencing the other, beginning in the embryo and continuing through adolescence. Now, University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children…

Article

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Having A Child With Autism Linked To Genetic Variant And Autoantibodies: Finding May Lead To Screening Test

Published October 20, 2011 in Medical News Today

A study by researchers at UC Davis has found that pregnant women with a particular gene variation are more likely to produce autoantibodies to the brains of their developing fetuses and that the children of these mothers are at greater risk of later being diagnosed with autism.

Article

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Diagnosing Autism At A Younger Age Could Lead To Earlier Interventions

Published October 16, 2011 in Medical News Today

Autism is normally diagnosed between the ages of 2 and 3, but new research is finding symptoms of autism spectrum disorders in babies as young as 12 months.

http://www.medicalnewstoday.com/releases/236003.php

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Boys With Autism May Grow Faster as Babies

Published October 7, 2011 in US News HealthDay

Boys with autism tend to grow faster as babies, with differences from typically developing infants seen in their head size, height and weight, a new study says. Researchers said the findings may offer new clues about the underlying mechanisms of autism. A larger head size probably means the children also have a larger brain.

http://health.usnews.com/health-news/family-health/brain-and-behavior/articles/2011/10/07/boys-with-autism-may-grow-faster-as-babies

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US researchers’ discovery promises answers on autism

Published September 8, 2011 in The Australian

Researchers have for the first time identified two biologically different strains of autism in a major breakthrough being compared with the discovery of different forms of cancer in the 1960s. The findings, to be announced at an international autism conference in Perth today, are seen as a key step towards understanding the causes of autism and developing effective treatments as well as a cure. The findings bring hope that the communication, socialization and other difficulties that autistic children experience can be tackled more easily and earlier.

http://www.theaustralian.com.au/news/health-science/us-researchers-discovery-promises-answers-on-autism/story-e6frg8y6-1226131763200

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Distinct features of autistic brain revealed in novel Stanford/Packard analysis of MRI scans

Published September 2, 2011 in Stanford University

Researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital have used a novel method for analyzing brain-scan data to distinguish children with autism from typically developing children. Their discovery reveals that the gray matter in a network of brain regions known to affect social communication and self-related thoughts has a distinct organization in people with autism.

http://med.stanford.edu/ism/2011/september/menon.html

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Prevalence and Correlates of Autism in a State Psychiatric Hospital

Published August 24, 2011 in Left Brain - Right Brian

This study estimated the ASD prevalence in a psychiatric hospital and evaluated the Social Responsiveness Scale (SRS) combined with other information for differential diagnosis. Chart review, SRS and clinical interviews were collected for 141 patients at one hospital. Diagnosis was determined at case conference. Receiver operating characteristic (ROC) curves were used to evaluate the SRS as a screening instrument. Chi-squared Automatic Interaction Detector (CHAID) analysis estimated the role of other variables, in combination with the SRS, in separating cases and non-cases. Ten percent of the sample had ASD. More than other patients, their onset was prior to 12 years of age, they had gait problems and intellectual disability, and were less likely to have a history of criminal involvement or substance abuse. Sensitivity (0.86) and specificity (0.60) of the SRS were maximized at a score of 84. Adding age of onset

http://leftbrainrightbrain.co.uk/2011/08/prevalence-and-correlates-of-autism-in-a-state-psychiatric-hospital/

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Residential Proximity to Freeways and Autism in the CHARGE Study

Published June 1, 2011 in Environ Health Perspect, Volke et al.

Researchers at the University of Southern California examined the association between autism and proximity of residence to freeways and major roadways during pregnancy and near the time of delivery, as a surrogate for air pollution exposure. Using the mother’s address recorded on the birth certificate and trimester-specific addresses derived from a residential history, measures of […]

http://www.ncbi.nlm.nih.gov/pubmed/21156395

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Children Conceived in Winter have a Greater Risk of Autism, Study Finds

Published May 5, 2011 in Medical News Today

An examination of the birth records of the more than 7 million children born in the state of California during the 1990s and early 2000s has found a clear link between the month in which a child is conceived and the risk of that child later receiving a diagnosis of autism. Among the children included in the study, those conceived during winter had a significantly greater risk of autism, the study found.

http://www.medicalnewstoday.com/articles/224314.php

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Most Adults with Autism Go Undiagnosed – New Findings, UK

Published May 4, 2011 in Medical News Today

Dr Brugha, who is also a consultant psychiatrist working in the NHS with the Leicestershire Partnership NHS Trust, said none of the cases with autism found in the community survey throughout England knew that they were autistic or had received an official diagnosis of autism or asperger syndrome.

http://www.medicalnewstoday.com/articles/224220.php

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Atypical Neural Networks for Social Orienting in Autism Spectrum Disorders

Published May 1, 2011 in Neuroimage, Greene et al.

Researchers at UCLA used fMRI to examine the neural mechanisms involved in social interactions in autism spectrum disorders in order to provide insight into the social attention impairments that characterize the disorder. Researchers examined children and adolescents with ASD with social and nonsocial cues. Data revealed that in typically developing individuals, there was greater responsiveness […]

http://www.ncbi.nlm.nih.gov/pubmed/21334443

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Aberrant Striatal Functional Connectivity in Children with Autism

Published May 1, 2011 in Biol Psychiatry, Di Martino et al.

BACKGROUND: Models of autism spectrum disorders (ASD) as neural disconnection syndromes have been predominantly supported by examinations of abnormalities in corticocortical networks in adults with autism. A broader body of research implicates subcortical structures, particularly the striatum, in the physiopathology of autism. Resting state functional magnetic resonance imaging has revealed detailed maps of striatal circuitry […]

http://www.ncbi.nlm.nih.gov/pubmed/21195388

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New checklist could detect autism by age 1

Published April 28, 2011 in USA Today

An early screening test for autism, designed to detect signs of the condition in babies as young as 1 year old, could revolutionize the care of autistic children, experts say, by getting them diagnosed and treated years earlier than usual. The checklist available online now asks parents or other caregivers about their child’s communication skills, from babbling and first words to eye contact.

http://yourlife.usatoday.com/health/medical/autism/story/2011/04/New-checklist-could-detect-autism-by-age-1/46590470/1

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Misreading Faces Tied to Child Social Anxiety

Published April 1, 2011 in Medical News Today

Children suffering from extreme social anxiety are trapped in a nightmare of misinterpreted facial expressions: They confuse angry faces with sad ones, a new study shows.

http://www.medicalnewstoday.com/articles/220974.php

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New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of Age

Published March 1, 2011 in J Autism Developmental Disorders, Kim et al.

The Autism Diagnostic Interview-Revised is a tool clinician’s use for the diagnosis of a child with an autism spectrum disorder (ASD). The diagnostic algorithms of the evaluative tool were altered to improve sensitivity and specificity compared to the previous algorithm.

http://www.ncbi.nlm.nih.gov/pubmed/21384244

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Serotonin Plays Role in Many Autism Cases, Studies Confirm

Published February 24, 2011 in Science Daily

Georgianna Gould, Ph.D., research assistant professor of physiology in the Graduate School of Biomedical Sciences, is eyeing the role that serotonin plays in autism spectrum disorders. Serotonin is known for giving a sense of well-being and happiness. It is a neurotransmitter, a chemical that acts like a radio tower in the brain conveying signals among cells called neurons. Thirty percent of autism cases may have a serotonin component. In a recent paper in the Journal of Neurochemistry, Dr. Gould and colleagues showed that a medication called buspirone improved the social behaviors of mice. Buspirone is approved by the U.S. Food and Drug Administration for use in adults as an anti-anxiety and antidepressant adjuvant medication.

http://www.sciencedaily.com/releases/2011/02/110224121940.htm

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Handwriting Problems Affect Children With Autism Into the Teenage Years

Published February 11, 2011 in Science Daily

A new study suggests that the handwriting problems that affect children with autism are likely to continue into their teenage years. The research found that the teenagers with autism earned 167 points out of 204 total possible points on the handwriting assessment, compared to the 183 points scored by teens in the group without autism. These results showed statistical significance in the study. The teenagers with autism also had motor skill impairments.

http://www.sciencedaily.com/releases/2010/11/101115173843.htm

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Movement during brain scans may lead to spurious patterns

Published January 16, 2011 in SFARI

Head movements taint the results of many brain imaging studies, particularly those analyzing children or individuals with autism. Thats the sobering message from two independent studies published over the past few months in NeuroImage.

Movement during brain scans may lead to spurious patterns

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How Cortical Nerve Cells Form Synapses With Neighbors

Published December 22, 2010 in Science Daily

Newly published research led by Professor Z. Josh Huang, Ph.D., of Cold Spring Harbor Laboratory (CSHL) sheds important new light on how neurons in the developing brain make connections with one another. This activity, called synapse validation, is at the heart of the process by which neural circuits self-assemble, and is directly implicated in pathology that gives rise to devastating neurodevelopmental disorders including autism and schizophrenia.

http://www.sciencedaily.com/releases/2010/12/101221141104.htm

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A Set Of Brain Proteins Is Found To Play A Role In Over 100 Brain Diseases And Provides A New Insight Into Evolution Of Behavior

Published December 21, 2010 in Medical News Today

In research just published, scientists have studied human brain samples to isolate a set of proteins that accounts for over 130 brain diseases. The paper also shows an intriguing link between diseases and the evolution of the human brain.

http://www.medicalnewstoday.com/articles/212064.php

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Mitochondrial Dysfunction in Autism

Published December 1, 2010 in Journal of the American Medical Association, Giulivi et al

Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children. While the study is small (10 test subjects) and requires replication, it furthers previous research which has revealed hints of a mitochondrial dysfunction/autism connection. The researchers found that mitochondria from children with autism […]

http://jama.ama-assn.org/content/304/21/2389

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Neural Signatures of Autism

Published December 1, 2010 in PNAS, Kaiser, Hudack, Schultz, Lee, Cheung, Berken, Deen, Pitskel, Sugrue, Voos, Saulnier, Ventola, Wolf, Klin, Vander Wyk, Pelphrey

These findings of this study hold far-reaching implications for our understanding of the neural systems underlying autism. Using FMRI to record the biological motion of children with autism spectrum disorder, unaffected siblings of children with ASD, and typically developing children, the study reveals three types of neural signatures: The study finds distinct brain responses to […]

http://www.ncbi.nlm.nih.gov/pubmed/21078973

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Describing the Brain in Autism in Five Dimensions-Magnetic Resonance Imaging Assisted Diagnosis of Autism Spectrum Disorder Using a Multiparameter Classification Approach

Published December 1, 2010 in Journal of Neuroscience, Ecker et al

The study tested a group of 20 high functioning adults with autism, together with 20 control adults, to determine whether MRI scans can detect autism. Using left hemisphere cortical thickness, the algorithm could achieve 90% accuracy, however the right hemisphere was worse at differentiating between the two groups. The study shows that it is feasible […]

http://www.jneurosci.org/cgi/content/abstract/30/32/10612

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Children With Autism Have Mitochondrial Dysfunction, Study Finds

Published November 30, 2010 in Science Daily

Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children, a new study by researchers at UC Davis has found. The study, published in the Journal of the American Medical Association (JAMA), found that cumulative damage and oxidative stress in mitochondria, the cell’s energy producer, could influence both the onset and severity of autism, suggesting a strong link between autism and mitochondrial defects.

http://www.sciencedaily.com/releases/2010/11/101130161521.htm

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Do Handwriting Problems with Autistic Children Continue into their Teen Years?

Published November 16, 2010 in Medical News Today

A new study suggests that the handwriting problems that affect children with autism are likely to continue into their teenage years. The research found that the teenagers with autism earned 167 points out of 204 total possible points on the handwriting assessment, compared to the 183 points scored by teens in the group without autism. These results showed statistical significance in the study. The teenagers with autism also had motor skill impairments.

http://www.medicalnewstoday.com/articles/207961.php

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How the Brain is Wired for Attention

Published November 2, 2010 in Science Daily

University of Utah (U of U) medical researchers have uncovered a wiring diagram that shows how the brain pays attention to visual, cognitive, sensory, and motor cues. The research provides a critical foundation for the study of abnormalities in attention that can be seen in many brain disorders such as autism, schizophrenia, and attention deficit […]

http://www.sciencedaily.com/releases/2010/11/101101151724.htm

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A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

Published November 1, 2010 in Cell, Marchetto et al

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we recapitulate early stages of a human neurodevelopmental disease, using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts, which essentially creates a "disease in a […]

http://www.cell.com/abstract/S0092-8674(10)01186-4

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Neurogenetics Research Sheds Light on the Causes of Neurological Disease

Published October 21, 2010 in Science Daily

The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders. Research developments in this area have revealed fundamental insights into the genes and molecular pathways that underlie neurological and psychiatric diseases. In a new series of review articles, experts in the field discuss exciting recent advances in neurogenetics research and the potential implications for the treatment of these devastating disorders.

http://www.sciencedaily.com/releases/2010/10/101020121202.htm

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New Finding Provides Insight Into The Psychology Of Autism-Spectrum Disorders

Published October 12, 2010 in Medical News Today

Researchers from the California Institute of Technology (Caltech) have isolated a very specific difference in how high-functioning people with autism think about other people, finding that – in actuality – they don’t tend to think about what others think of them at all.

http://www.medicalnewstoday.com/releases/235835.php

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Infants Gaze May Be an Early, but Subtle, Marker for Autism Risk

Published September 1, 2010 in Science Daily

Kennedy Krieger Institute have announced new study results showing an early marker for later communication and social delays in infants at a higher-risk for autism may be infrequent gazing at other people when unprompted. The study also found that six-month-old high-risk infants demonstrated the same level of cause and effect learning skills when compared to low-risk infants of the same age.

http://www.sciencedaily.com/releases/2010/09/100901111628.htm

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Researchers Connect APC Protein to Autism and Mental Retardation

Published August 24, 2010 in Medical News Today

A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC (adenomatous polyposis coli) plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.

http://www.medicalnewstoday.com/articles/198610.php

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Autism Linked to Multisensory Integration

Published August 20, 2010 in Science Daily

A new study by researchers at Albert Einstein College of Medicine of Yeshiva University has provided concrete evidence that children with autism spectrum disorders (ASD) process sensory information such as sound, touch and vision differently than typically developing children.

http://www.sciencedaily.com/releases/2010/08/100819173840.htm

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Study: Autism Can Be Diagnosed with 15 Minute Brain Scan

Published August 10, 2010 in Bloomberg

A 15-minute brain scan identified adults with autism almost as effectively as conventional methods of diagnosis that rely on interviews with patients and their families, U.K. scientists said. The scan detected more than 90 percent of the autistic patients who had been diagnosed using intelligence tests, psychiatric interviews, physical examinations and blood tests, according to a study by Kings College London researchers.

http://www.bloomberg.com/news/2010-08-10/autism-can-be-diagnosed-with-a-15-minute-brain-scan-british-study-finds.html

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Researchers Find Predictors of Autism That Can Lead to Infant Diagnosis

Published August 5, 2010 in S.I. Live

Certain behaviors seen in infants as young as 1-month-old may be predictors of autism spectrum disorders, according to new research by scientists at the Institute for Basic Research and Developmental Disabilities, Willowbrook.At 1 month, children with the ASD diagnosis were more likely to have asymmetrical visual tracking and arm tone deficits. By 4 months, they were more attracted to higher levels of visual stimulation, much like younger infants. Between 7 and 10 months, the children with ASD showed major declines in mental and motor performance.

http://www.silive.com/westshore/index.ssf/2010/08/researchers_from_staten_island.html

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New Technology Reveals a Unique Vocal Signature in Autism

Published July 20, 2010 in Medical News Today

Study reports new automated vocal analysis technology could fundamentally change the study of language development as well as the screening for autism spectrum disorders and language delay.

http://www.medicalnewstoday.com/articles/195268.php

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New Autism Susceptibilty Genes Identified

Published June 10, 2010 in Medical News Today

Mount Sinai researchers and the Autism Genome Project Consortium (AGP) announced that they have identified new autism susceptibility genes that may lead to the development of new treatment approaches. These genes, which include SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus, primarily belong to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling

http://www.medicalnewstoday.com/articles/191404.php

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Blinking Could Detect Autism

Published May 21, 2010 in SFARI

The researchers tracked eye movements and blinks in 41 2-year-olds with autism and 52 healthy controls while the children watched a short movie of two toddlers on a playground. Both groups on average blinked about five times per minute. But they differed significantly in how their blinking lined up with the content of the movie.Healthy toddlers refrained from blinking as they watched scenes with high emotional content, such as when the toddler-actors fought about a toy. Toddlers with autism, in contrast, were just as likely to blink during emotional scenes as during dull ones.

https://sfari.org/news-and-opinion/conference-news/2010/international-meeting-for-autism-research-2010/blinking-could-detect-autism-group-says

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Studies Link Infertility to Autism

Published May 20, 2010 in Time

A study, conducted by a team at the Harvard School of Public Health, found that autism was nearly twice as common among the children of women who were treated with the ovulation-inducing drug Clomid and other similar drugs than women who did not suffer from infertility, and the link persisted even after researchers accounted for the women’s age. Moreover, the association between fertility drugs and autism appeared to strengthen with exposure: the longer women reported being treated for infertility, the higher the chances their child had an autism spectrum disorder (ASD).

http://www.time.com/time/health/article/0,8599,1990567,00.html

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IntegraGen Announces Publication of Four Genetic Variants in Autism

Published May 14, 2010 in Medical News Today

IntegraGen SA, a French biotechnology company dedicated to gene discovery, announced today the publication of the results of a collaborative study reporting the use of a combined analysis of multiple genetic variants in a genetic score to help identify individuals at high risk of developing autism.

http://www.medicalnewstoday.com/articles/188671.php

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Brain’s Master Switch is Verified

Published May 9, 2010 in Science Daily

Yeon-Kyun Shin, professor of biochemistry, biophysics and molecular biology at ISU, has shown that the protein called synaptotagmin1 (Syt1) is the sole trigger for the release of neurotransmitters in the brain. Shin believes his discovery may be useful in understanding brain malfunctions such as autism, epilepsy and others.

http://www.sciencedaily.com/releases/2010/05/100507161421.htm

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Extremely Preterm Children are Three Times As Likely to Have Psychiatric Disorder

Published April 25, 2010 in Science Daily

Significant advances in the neonatal intensive care have resulted in increased survival rates of children who are born at less than 26 weeks of gestation, so termed “extremely preterm children.” Notably, however, improved survival rates have been accompanied by a higher risk for later cognitive, neuromotor, and sensory impairments in these children.

http://www.sciencedaily.com/releases/2010/04/100423113822.htm

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New Research Raises Hope that Autism Effects May Be Reversible

Published April 22, 2010 in Medical News Today

A new study by researchers at The George Washington University School of Medicine and Health Sciences’ Department of Biochemistry and Molecular Biology raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. Researchers have identified potentially removable chemical tags (called “methyl groups”) on specific genes of autistic individuals that led to gene silencing. They also observed these changes in cells derived from blood, opening the way to molecular screening for autism using a blood test.

http://www.medicalnewstoday.com/articles/186262.php

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First Direct Recording Made of Mirror Neurons in Human Brain

Published April 13, 2010 in Science Daily

Neuroscientists believe this “mirroring” is the mechanism by which we can “read” the minds of others and empathize with them. It’s how we “feel” someone’s pain, how we discern a grimace from a grin, a smirk from a smile. Problem was, there was no proof that mirror neurons existed — only suspicion and indirect evidence. Dr. Itzhak Fried, a UCLA professor of neurosurgery and of psychiatry and biobehavioral sciences, Roy Mukamel, a postdoctoral fellow in Fried’s lab, and their colleagues have for the first time made a direct recording of mirror neurons in the human brain.It’s suspected that dysfunction of these mirror cells might be involved in disorders such as autism, where the clinical signs can include difficulties with verbal and nonverbal communication, imitation and having empathy for others. So gaining a better understanding of the mirror neuron system might help devise strategies for treatment of this disorder.

http://www.sciencedaily.com/releases/2010/04/100412162112.htm

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New Study Of Autism Reveals a ‘DNA tag’ Amenable To Treatment

Published April 8, 2010 in EurekAlert

A new discovery raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. In a new study appearing online in The FASEB Journal, scientists have identified a way to detect the disorder using blood and have discovered that drugs which affect the methylation state (“DNA tagging”) of genes could reverse autism’s effects. This type of drug is already being used in some cancer treatments.

http://www.eurekalert.org/pub_releases/2010-04/foas-nso040810.php

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Children With Autistic Traits Remain Undiagnosed

Published March 22, 2010 in Science Daily

There has been a major increase in the incidence of autism over the last twenty years. While people have differing opinions as to why this is (environment, vaccines, mother’s age, better diagnostic practice, more awareness etc.) there are still many children who have autistic traits that are never diagnosed clinically. Therefore, they do not receive the support they need through educational or health services.

http://www.sciencedaily.com/releases/2010/03/100322131423.htm

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Better Genetic Test for Autism?

Published March 15, 2010 in Science Daily

A large study from Children’s Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests.

http://www.sciencedaily.com/releases/2010/03/100315091255.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed:%20sciencedaily%20%28ScienceDaily:%20Latest%20Science%20News%29

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Longitude Magnetic Resonance Imaging Study of Cortical Development Through Early Childhood in Autism

Published March 1, 2010 in Journal of Neuroscience, Courchesne et al

The first longitudinal study of brain growth in toddlers at the time symptoms of autism are becoming clinically apparent using structural MRI scans at multiple time points beginning at 1.5 years up to 5 years of age. They collected 193 scans on 41 toddlers who received a confirmed diagnosis of autistic disorder at approximately 48 […]

http://www.jneurosci.org/cgi/content/abstract/30/12/4419

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Autism’s Earliest Symptoms Not Evident in Children Under 6 Months

Published February 16, 2010 in Science Daily

A study of the development of autism in infants, comparing the behavior of the siblings of children diagnosed with autism to that of babies developing normally, has found that the nascent symptoms of the condition — a lack of shared eye contact, smiling and communicative babbling — are not present at 6 months, but emerge gradually and only become apparent during the latter part of the first year of life.

http://www.sciencedaily.com/releases/2010/02/100216091009.htm

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Blood Mercury Concentrations in CHARGE Study Children With and Without Autism

Published January 1, 2010 in Environmental Health Perspectives, Hertz-Picciotto, Green, Delwiche, Hansen, Walker, Pessah

The Childhood Autism Risk from Genetics and the Environment (CHARGE) Study enrolled children 2-5 years of age. After diagnostic evaluation, they analyzed three groups: AU/ASD, non-AU/ASD with developmental delay (DD), and population-based TD controls. Mothers were interviewed about household, medical, and dietary exposures. Blood Hg was measured by inductively coupled plasma mass spectrometry. Multiple linear […]

http://ehp03.niehs.nih.gov/article/info%3Adoi%2F10.1289%2Fehp.0900736

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New CDC Report on Prevalence of Autism Spectrum Disorders

Published December 18, 2009 in CDC- MMWR Surveillance Studies

In 2006, on average, approximately 1% or one child in every 110 in the 11 ADDM sites was classified as having an ASD. The average prevalence of ASDs identified among children aged 8 years increased 57% in 10 sites from the 2002 to the 2006 ADDM surveillance year. Although improved ascertainment accounts for some of the prevalence increases documented in the ADDM sites, a true increase in the risk for children to develop ASD symptoms cannot be ruled out. On average, although delays in identification persisted, ASDs were being diagnosed by community professionals at earlier ages in 2006 than in 2002.

http://www.cdc.gov/mmwr/preview/mmwrhtml/ss5810a1.htm

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Behavioral Training Improves Connectivity and Function in the Brain

Published December 9, 2009 in National Institute of Mental Health (NIMH)

Children with poor reading skills who underwent an intensive, six-month training program to improve their reading ability showed increased connectivity in a particular brain region, in addition to making significant gains in reading, according to a study funded in part by the National Institute of Mental Health (NIMH).

http://www.nih.gov/news/health/dec2009/nimh-09.htm

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Experts Summarize the State of Research in Autism Spectrum Disorder

Published October 14, 2009 in Science Daily

Scientific understanding and medical treatments for autism spectrum disorders (ASDs) have advanced significantly over the past several years, but much remains to be done, say experts from the Center for Autism Research at The Children’s Hospital of Philadelphia who recently published a scientific review of the field.

http://www.sciencedaily.com/releases/2009/10/091014122049.htm

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Utah Researchers Discover Another Genetic Link to Autism

Published October 8, 2009 in Salt Lake Tribune

An international consortium of researchers, including three from the University of Utah, has discovered yet another genetic link to autism. Studying the genes of more than 1,000 families — including 150 from Utah — who have more than one person with the disorder, the researchers found a region on chromosome 5 that is strongly associated with autism.

http://www.sltrib.com/News/ci_13516284

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Op-Ed: Fight to Overcome Autism Gets Major Boost, Higher Priority

Published October 5, 2009 in HHS Secretary Kathleen Sebelius

The federal government will provide nearly twice as much funding for autism research in the upcoming fiscal year as we had just three years ago. President Obama has made autism a focus from the first days of his presidency in hopes to counterbalance some of the new challenges Autism has created for for families, schools, and health care providers.

http://old.news.yahoo.com/s/ynews/ynews_hl939

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For the First Time, A Census of Autistic Adults

Published October 3, 2009 in Time Magazine

On Sept. 22, England’s National Health Service (NHS) released the first study of autism in the general adult population. The findings confirm the intuitive assumption: that ASD is just as common in adults as it is in children. Researchers at the University of Leicester, working with the NHS Information Center found that roughly 1 in 100 adults are on the spectrum the same rate found for children in England, Japan, Canada and, for that matter, New Jersey.

http://www.time.com/time/health/article/0,8599,1927415,00.html?xid=rss-health

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Researchers identify how PCBs may alter in utero, neonatal brain development

Published April 1, 2009 in PLoS-Biology, Pessah, et al

In three new studies — including one appearing in the Public Library of Science – Biology (PLoS – Biology) — UC Davis researchers provide compelling evidence of how low levels of polychlorinated biphenyls (PCBs) alter the way brain cells develop. The findings could explain at last — some 30 years after the toxic chemicals were […]

http://www.eurekalert.org/pub_releases/2009-04/uoc--rih040609.php

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Two-year-olds with autism orient to non-social contingencies rather than biological motion

Published March 1, 2009 in Nature, Klin, Lin, Gorrindo, Ramsay, Jones

Typically developing human infants preferentially attend to biological motion within the first days of life. This ability is highly conserved across species and is believed to be critical for filial attachment and for detection of predators. The neural underpinnings of biological motion perception are overlapping with brain regions involved in perception of basic social signals […]

http://www.nature.com/nature/journal/vaop/ncurrent/abs/nature07868.html

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Screening Strategies for Autism Spectrum Disorders in Pediatric Primary Care

Published October 1, 2008 in Journal of Developmental and Behavioral Pediatrics, Pinto-Martin, Young, Mandell, Poghosyan, Giarelli, Levy

Two strategies have been proposed for early identification of children with autism spectrum disorders (ASD): (1) using a general screening tool followed by an ASD-specific screening tool for those who screen positive on the former or (2) using an ASD-specific tool for all children. The relative yield of these two strategies has not been examined. […]

http://www.ncbi.nlm.nih.gov/pubmed/18852608

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Absence of Preferential Looking to the Eyes of Approaching Adults Predicts Level of Social Disability in 2-year old toddlers with Autism Spectrum Disorder

Published August 31, 2008 in Archives of General Psychiatry, Jones, Carr, et al

Looking at the eyes of others is important in early social development and in social adaptation throughout one’s life span. Our results indicate that in 2-year-old children with autism, this behavior is already derailed, suggesting critical consequences for development but also offering a potential biomarker for quantifying syndrome manifestation at this early age.

http://www.ncbi.nlm.nih.gov/pubmed/18678799

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Mortality and Causes of Death in Autism Spectrum Disorders: An Update

Published July 31, 2008 in Autism, Mouridsen, Bronnum-Hansen, et al

This study compared mortality among Danish citizens with autism spectrum disorders (ASDs) with that of the general population. A clinical cohort of 341 Danish individuals with variants of ASD, previously followed over the period 1960-93, now on average 43 years of age, were updated with respect to mortality and causes of death. Standardized mortality ratios […]

http://www.ncbi.nlm.nih.gov/pubmed/18579647

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Recurrent 16p11.2 Microdeletions in Autism

Published February 15, 2008 in Human Molecular Genetics, Kumar, KaraMohamed, et al

Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path bacterial artificial chromosome microarray to identify submicroscopic chromosomal rearrangements specific to autism. We discovered […]

http://www.ncbi.nlm.nih.gov/pubmed/18156158

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