- About ASF
- What is Autism?
- How Common is Autism?
- Early Signs of Autism
- Autism Diagnosis
- Following a Diagnosis
- Treatment Options
- Beware of Non-Evidence-Based Treatments
- Autism and Vaccines
- Autism Science
- Quick Facts About Autism
- What We Fund
- Autism Sisters Project
- Baby Siblings Research Consortium
- Resources for Grantees
- Funding Calendar
- ASF Funded Research
- ASF Supported Findings
- Apply for a Fellowship
- Apply for a Research Accelerator Grant
- Apply for an Undergraduate Summer Research Grant
- Get Involved
- Day of Learning
- Year End Summaries
- Contact Us
Research by Topic: Autism Research
The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that Autism BrainNet is accepting applications for recently acquired brain tissue from individuals with autism spectrum disorder (ASD) and related neurodevelopmental disorders, as well as neurotypical individuals. To date, the Autism BrainNet collection has received 146 brain donations. This includes 55 brains from individuals with a confirmed or […]
On this week’s podcast, a study led by Elizabeth Berg in the lab of Dr. Jill Silverman at UC Davis published in the journal Autism Research demonstrated SHANK3’s role in core social communication deficits in a rat model of autism. Rats exhibit both receptive and expressive communication. SHANK3 mutations are seen in those with Phelan-McDermid […]
Research led by Daniel Geschwind of the University of California, Los Angeles used postmortem brain tissue, including resources from Autism BrainNet, found similar gene expression patterns in the brains of those with autism, schizophrenia, and bipolar disorder. All three conditions show an activation of genes in star-shaped brain cells called astrocytes, and suppression of genes […]
On this week’s podcast, Dr. Lori Sacrey of the University of Alberta highlights findings from a multi-site study she led that investigated how well parent report measures could predict an ASD diagnosis for at-risk infants. Plus, the journal Autism decided to move away from the puzzle piece symbol in this new era of autism research.
The landscape of autism research is changing. With increased calls for autism research funding, there has also been increased focus on improving autism services across the lifespan. The journal Autism has decided to move away from the puzzle piece symbol and redesign their cover. They explain why in an editorial here.
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 […]
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. […]
2015 was an unprecedented year for autism research with many significant advances that will improve the lives of people with autism. Just last week, for example, the CDC reported a 5-month decrease in the age that children are first being evaluated for autism, which means families are learning the signs, acting earlier, and, hopefully, starting early intervention services earlier. In 2015, we changed the way we think about females with autism, gained a better understanding of the underlying genetic causes of autism, and made important progress in both behavioral and medical interventions.
Day and Nighttime Excretion of 6-sulphatoxymelatonin in Adolescents and Young Adults with Autistic DisorderPublished 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.
This study assessed parent-reported elopement occurrence and associated factors among children with Autism Spectrum Disorders (ASD)s.
Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum DisordersPublished 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.
Effects of a Brief Early Start Denver Model (ESDM)-Based Parent Intervention on Toddlers at Risk for Autism Spectrum Disorders: A Randomized Controlled TrialPublished 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.
Caregiver Burden as People with Autism Spectrum Disorder and Attention-Deficit / Hyperactivity Disorder Transition into Adolescence and Adulthood in the United KingdomPublished 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).
This study systematically reviewed evidence regarding vocational interventions for individuals with Autism Spectrum Disorder (ASD) between the ages of 13 and 30 years.
Melatonin for Sleep in Children with Autism: A Controlled Trial Examining Dose, Tolerability, and OutcomesPublished 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).
Teacher-Implemented Joint Attention Intervention: Pilot Randomized Controlled Study for Preschoolers with AutismPublished 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.
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.
The Autism Science Foundation is inviting applications for Research Accelerator Grants of up to $5000 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 the project that warrant more funding. These grants are designed to expand the scope, increase the efficiency and improve final product dissemination of active autism research grants. Applications must be received by October 2, 2015 and/or April 1, 2016.
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.
Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow Up of the 1980s Utah/UCLA Autism Epidemiologic StudyPublished 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.
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.
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.
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.
The Effect of Levetiracetam on Focal Nocturnal Epileptiform Activity During Sleep-A Placebo-Controlled Double-Blind Cross-Over StudyPublished 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.
Longitudinal Follow-Up of Children with Autism Receiving Targeted Interventions on Joint Attention and PlayPublished 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.
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?
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.
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.
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.
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.
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.
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.
A new study published in the Journal of Autism and Developmental Disorders provides an explanation on the challenges and unique skills of siblings of children with an ASD. Hear more on this weeks ASF science podcast.
A Novel Approach of Homozygous Haplotype Sharing Identifies Candidate Genes in Autism Spectrum DisorderPublished April 8, 2015 in Human Genetics
A large scale analysis identifies candidate genes which may contain low-frequency recessive variations contributing to ASD
Group Cognitive Behavior Therapy for Children with High-Functioning Autism Spectrum Disorders and Anxiety: A Randomized TrialPublished 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.
Making the Connection: Randomized Controlled Trial of Social Skills at School for Children with Autism Spectrum DisordersPublished 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).
ASF Blog Post: Confused About the New Autism Risk Findings and IVF? A New Blog Talks to an Expert for InterpretationPublished March 30, 2015 in Autism Science Foundation
Read the full post at www.autismsciencefoundation.wordpress.com.
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.
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.
A new study looking at intervention for premature infants in the NICU suggests that it also might be helpful to prevent symptoms of autism.
This weeks science podcast highlights a study which uses the results from Autism BrainNet resources to inform blood based genetic diagnosis in toddlers. Genes that are differentially expressed in autism with the most complex interactions are also the ones that are expressed in brain tissue of affected individuals. While the biomarker is still too early for market, these findings strengthen the utility of the assay.
Neuronal Connectivity as a Convergent Target of Gene-environment Interactions that Confer Risk for Autism Spectrum DisordersPublished 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.
Design and Subject Characteristics in The Federally-Funded Citalopram Trial in Children with Pervasive Developmental DisordersPublished 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).
A Double-Blind Placebo-Controlled Trial of Fluoxetine for Repetitive Behaviors and Global Severity in Adult Autism Spectrum DisordersPublished 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).
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.
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.
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.
Effects of Risperidone and Parent Training on Adaptive Functioning in Children with Pervasive Developmental Disorders and Serious Behavioral ProblemsPublished 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.
Clinical Research Associates Now Accepting Applications for its Novel Outcome Measures for ASD Clinical Trials AwardPublished January 12, 2015 in Clinical Research Associates
Grants awarded through this request for applications are intended to develop and validate objective outcome measures for use in clinical trials in autism, addressing the current lack of quantitative, objective, reliable and sensitive tools to measure treatment response in behavioral and pharmacological trials. We seek innovative applications that will objectively and sensitively distinguish treatment effects from placebo response, reducing reliance on retrospective parental rating and assessment.
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.
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.
This study examined the effects of a modified Mindfulness-based therapy (MBT) protocol (MBT-AS) in high-functioning adults with ASD.
A Randomized Controlled Trial of Preschool-Based Joint Attention Intervention for Children with AutismPublished January 8, 2015 in J Child Psychol Psychiatry
Assess the effects of a preschool-based Joint Attention (JA)-intervention.
Transcriptome Analysis Reveals Dysregulation of Innate Immune Response Genes and Neuronal Activity-Dependent Genes in AutismPublished 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Dysregulation of Estrogen Receptor Beta, Aromatase, and ER Co-Activators in the Middle Frontal Gyrus of Autism Spectrum Disorder SubjectsPublished 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.
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.
Autism Treatment in the First Year of Life: A Pilot Study of Infant Start, a Parent-Implemented Intervention for Symptomatic InfantsPublished 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
ASF President Alison Singer on Good Morning America Comments on Research About Kids Moving Off the SpectrumPublished 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.
Expansion of the Clinical Phenotype Associated with Mutations in Activity-Dependent Neuroprotective ProteinPublished 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.
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
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.
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.
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.
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.
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.
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.
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.
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.
Reversal of Autism-Like Behaviors and Metabolism in Adult Mice with Single-Dose Antipurinergic TherapyPublished 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.
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.
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.
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.
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)
Top three takeaways from IMFAR 2014: autism is growing up, the future looks promising, and scientists are getting social.
Full Video of Committee on Oversight and Government Reform Hearing: Examining the Federal Response to Autism Spectrum DisordersPublished May 20, 2014
A full video of yesterday’s committee hearing is now available.
Examining the Federal Response to Autism Spectrum Disorders: Government Oversight Committee Meets TodayPublished 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
A great story featuring the Center for Discovery, and including a picture of ASF President Alison Singer’s daughter, Jodie.
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.
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.
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.
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.
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.
"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 […]
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.
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.
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.
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.
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.
Comparing cognitive outcomes among children with autism spectrum disorders receiving community-based early intervention in one of three placementsPublished 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 […]
ASF celebrates its 5th anniversary! Watch to learn about our first five years of searching, solving, and sharing.
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.
Request for Information (RFI): Impact of DSM-5 Changes to Diagnostic Criteria for Autism Spectrum Disorders (ASD) on Research and ServicesPublished 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.
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.
IACC Issues Statement Regarding Implications of Changes in the Diagnostic Criteria for Autism Spectrum DisorderPublished 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.
Hilibrand Autism Symposium: Carving a Place in the World for Young Adults With Autism Spectrum DisordersPublished 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/
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.
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.
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.
Autism Science Foundation Issues Request for Applications: 2014 Undergraduate Summer Research GrantsPublished 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.
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.
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.
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.
A Higher Mutational Burden in Females Supports a Female Protective Model in Neurodevelopmental DisordersPublished 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.
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.
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.
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.
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.
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.
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.
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.
Effects of a Self-Monitoring Device on Socially Relevant Behaviors in Adolescents with Asperger Disorder: A Pilot StudyPublished 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.
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.
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.
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.
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.
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.
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.
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.
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.
"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 […]
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.
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.
Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disordersPublished 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 […]
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autismPublished 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 […]
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.
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.
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.
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.
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.
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.
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.
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.
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.
"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 […]
"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 […]
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.
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.
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.
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.
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.
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.
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.
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.
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.
ASF Grantee Publishes Paper in Nature that Brings Insight to Study of Phelan-McDermid Syndrome and AutismPublished 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
“In the Driver’s Seat”: Parent Perceptions of Choice in a Participant-Directed Medicaid Waiver Program for Young Children with AutismPublished 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Long-Term Outcomes of Parent-Assisted Social Skills Intervention for High-Functioning Children with Autism Spectrum DisordersPublished 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.
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.
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.
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.
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.
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.
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.
Assessment of Global Functioning in Adolescents with ASD: Utility of the Developmental Disability-Child Global Assessment ScalePublished 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.
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.
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.
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.
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.
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.
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.”
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.
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.
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
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.
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.
Dr. Jennifer Elder Provides Commentary on Current Research for the Gluten-Free, Casein-Free (GFCF) DietPublished 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.
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.
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.
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.
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.
Maternal Antibodies from Mothers of Children with Autism Alter Brain Growth and Social Behavior Development in the Rhesus MonkeyPublished 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.
Maternal Antibodies from Mothers of Children with Autism Alter Brain Growth and Social Behavior Development in the Rhesus MonkeyPublished 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.
Problematic Antibodies Affecting Brain Development During Pregnancy Could Help Explain 1/4 of Cases of AutismPublished 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.
Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkeyPublished 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 […]
Controversial Study Suggests That An Ear Muscle In Children with Autism Responds to Lower Decibel Sounds Than Typical ControlsPublished 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.
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.
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.
Comparative Efficacy of LEAP, TEACCH and Non-Model-Specific Special Education Programs for Preschoolers with Autism Spectrum DisordersPublished 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.
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.
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.
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.
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.
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.
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.
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.
Researchers from Massachusetts General Hospital for Children in Boston found that minority children are significantly less likely to use specialty care for complications with the disorder when compared to kids from white families. The most significant difference was for GI and nutrition services.
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.
Majority of Individuals with SHANK3 Gene Problems Have Both Autism and Severe Intellectual DisabilityPublished 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.
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.
A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental DisabilitiesPublished 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.
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
Two Studies Isolate Specific Brain Circuits That Underlie Compulsive Behaviors Seen in Individuals with OCD and AutismPublished 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
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.
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.
Working Memory Deficits in High-functioning Adolescents with Autism Spectrum Disorders: Neuropsychological and Neuroimaging correlatePublished 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.”
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.
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.
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.
Seaside Therapeutics has discontinued their extension study of Arbaclofen (STX209), a drug that showed promise in treating social impairment related to Fragile X syndrome.
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.
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.
Brain Imaging Study Shows Decreased Production of Chemical Messenger GABA in Individuals with AutismPublished 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.
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.
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.
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.
Effects of Increased Development in Peripheral Vision on Children with Autism’s Reduced Ability to Make Eye ContactPublished 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.
Increasing the Gut Bacteria In Mice That Lack Them Helps Increase Their Sociability with Familiar MicePublished 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.
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.
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.
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.
ASF President Alison Singer is featured in this article on how parent advocates help advance autism research.
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.
This new study found that children with autism see simple movement twice as quickly as other children their age.
“Why do boys get diagnosed with autism four times as often as girls? New research, including some of the latest data from the International Society for Autism Research annual conference last week, addresses this question, one of the biggest mysteries in the field.”
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.
Excessive Cerebral Spinal Fluid and Enlarged Brain Size in Infants May Be a Potential Biomarker for AutismPublished 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.
Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorder: Results of an 18-month Feasibility StudyPublished April 26, 2013 in Journal of Autism and Developmental Disorders
New findings from a small pilot study suggest cognitive enhancement therapy is a feasible and effective intervention for cognitive impairments in verbal adults with ASD. Adult participants were highly satisfied with the therapy and treatment attendance was high, indicating their willingness to participate in and commit to an intervention that they considered useful.
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.
Trophoblast Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for AutismPublished 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.
Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural TraitsPublished 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.
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.
London study finds a higher rate of gene variations in the chromosome 16 region in males with autism compared to females.
Two recent studies have linked mind-blindness to atypical patterns of brain activity in people with ASD.
Did you miss the live chat? Read the transcript here.
ASF President Alison Singer joined President Obama for the official public announcement of the BRAIN Initiative.
Penn State researchers link autism to increased genetic change in “hotspots”, regions of the genome that are highly susceptible to mutation.
This special report from the Simons Foundation looks at neural connectivity theories of autism.
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.
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.
Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 20112012Published March 20, 2013 in CDC
This report presents data on the prevalence of diagnosed autism spectrum disorder (ASD) as reported by parents of school-aged children (ages 617 years) in 20112012. Results suggest 1 in 50 U.S. children is diagnosed with ASD based on parent report.
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.
A Quantitative Link between Face Discrimination Deficits and Neuronal Selectivity for Faces in AutismPublished 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.
A mother with two sons with autism helps advance research on neuroligin-4 mutations.
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.
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.
Increasing Exposure to Antibody-Stimulating Proteins and Polysaccharides in Vaccines Is Not Associated with Risk of AutismPublished 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.
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.
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.
Is Medication Information for Children with Autism Spectrum Disorder Monitored and Coordinated Across Professionals? Findings from a Teacher SurveyPublished 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.
Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism.Published March 1, 2013 in PubMed
Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of autism. This investigated the dynamics of an integrated metabolic pathway essential for cellular antioxidant and methylation capacity in children with autism.
Filed under: Autism Research
Elevated Repetitive Behaviors are Associated with Lower Diurnal Salivary Cortisol Levels in Autism Spectrum DisorderPublished 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.
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.
Social stories, an intervention used to define a skill, concept or situation in socially appropriate terms, were used to promote self-regulation techniques in a self-contained preschool classroom. While implementation of self-regulation strategies varied among the children, all showed an increase in desired behaviors with the intervention.
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.
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.
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.
Read this new guest post from Theresa Waldron, author of www.healthsnark.com, on the possible link between prenatal folic acid and autism.
Oxytocin and Vasopressin in Children and Adolescents With Autism Spectrum Disorders: Sex Differences and Associations With SymptomsPublished 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.
Autism Spectrum Disorder Is Associated with Ventricular Enlargement in a Low Birth Weight PopulationPublished 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.
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.
Association between maternal use of folic acid supplements and risk of autism spectrum disorders in childrenPublished 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 […]
Stem Cell Research Focusing on Autisms Genetic Mysteries Earns $2.125 Million Grant at Robert Wood Johnson Medical SchoolPublished February 12, 2013 in Newswise
Beyond Autism: A Baby Siblings Research Consortium Study of High-risk Children at Three Years of AgePublished 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.
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/
Researchers at Virginia Tech examine M-CHAT performance in a very low socio-economic status setting and find it lacks internal consistency across ethnic and educational groups. Caregivers who reported a low maternal educational level or with minority status were more likely to mark items suggestive of autism compared to those with higher maternal education or non-minority status
Brief Report: Is Cognitive Rehabilitation Needed in Verbal Adults with Autism? Insights from Initial Enrollment in a Trial of Cognitive Enhancement TherapyPublished February 5, 2013 in Journal of Autism and Developmental Disorders
Early results from this pilot trial of cognitive enhancement therapy (CET) indicate that despite above-average intelligence, verbal adults with ASD can have significantly impaired neurocognition and social cognition. The authors suggest CET, which is designed to remediate both social and non-social deficits through computer-based neurocognitive training, could be useful for cognitive rehabilitation in this population.
Researchers examine parent-child dyads during structured and free play and find that that joint engagement lasts longer when parents engage their child at or slightly above the child’s current level of play. Parents of children with autism often find it difficult to estimate their child’s level, which can result in parents engaging at too high of a level and shortening the interaction.
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.
Feeding Problems and Nutrient Intake in Children with Autism Spectrum Disorders: A Meta-analysis and Comprehensive Review of the LiteraturePublished February 1, 2013 in Journal of Autism and Developmental Disorders
Children with ASD experience more feeding problems compared to their typical peers, such as unusual eating patterns, food rituals and or/refusals, but are not at a greater risk for compromised growth. Researchers attribute this finding to the fact that while children with ASD tend to consume enough food to meet their gross energy needs, their diet often suffers from nutritional deficits.
Familiarity Breeds Support: Speech-language Pathologists Perceptions of Bullying of Students with Autism Spectrum DisordersPublished 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.
Use of Complementary and Alternative Medicine in Children With Autism and Other Developmental Disabilities: Associations With Ethnicity, Child Comorbid Symptoms, and Parental StressPublished January 30, 2013 in Journal of Child Neurology
Families of children with ASD and other comorbid symptoms, including behavioral problems such as irritability and food allergies, were more likely to use complementary and alternative medicine, and they were more likely to use more types of modalities as compared to families of children with other developmental disabilities.
Not surprisingly, research shows that when the interests of adolescents with ASDs are incorporated into school activities, these students display higher levels of engagement and are more likely to initiate interactions with their typical peers.
Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum DisordersPublished January 28, 2013 in October 1, 2012
This study examines the effects of sleep problems on daytime cognitive and adaptive functioning in children with ASD.
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.
SFARI: Rare, inherited mutations contribute to a significant proportion of autism cases according to two new studies published in Neuron.
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.
Large national birth cohort study links elevated maternal C-reactive protein (a marker of systemic inflammation) to increased autism risk.
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.
Childhood Immunization Schedule and Safety: Stakeholder Concerns, Scientific Evidence, and Future StudiesPublished January 16, 2013 in Institute of Medicine of the National Academies
The Institute of Medicine issues a report in response to questions about the safety of the vaccination schedule for children under age six. Thorough examination of the immunization schedule reveals no major concerns associated with adherence to recommended practices.
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.
Study Shows Children with Autism only 10 Percent More Likely to be Using Complementary and Alternative MedicinePublished 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.
Results from this preliminary study suggest that an interactive virtual reality game can improve social communication skills in teens with ASD.
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.
Research finds that despite their frequent use, weighted vests have little effect on managing challenging behaviors in children with autism.
The Association Between Bullying and the Psychological Functioning of Children with Autism Spectrum DisordersPublished January 2, 2013 in PubMed
A new study finds that children with ASD are more likely to be bullied compared to their typical peers. Children with ASD with an additional clinical or educational disorder have an increased risk of being bullied and becoming bullies themselves.
This study analyzes the efficacy and secondary effects of the drugs, Risperidone and Aripipazole.
Anxiety, sensory over-responsivity, and gastrointestinal problems in children with autism spectrum disordersPublished January 1, 2013 in PubMed
Children with autism spectrum disorders (ASD) experience high rates of anxiety, sensory processing problems, and gastrointestinal (GI) problems; however, the associations among these symptoms in children with ASD have not been previously examined. The current study examined bivariate and multivariate relations among anxiety, sensory over-responsivity, and chronic GI problems in a sample of 2,973 children with ASD enrolled in the Autism Treatment Network (ages 2-17 years, 81.6 % male).
Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic StudyPublished 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.
Anxiety, Sensory Over-responsivity, and Gastrointestinal Problems in Children with Autism Spectrum DisordersPublished January 1, 2013 in Journal of Abnormal Child Psychology
Anxiety, sensory processing problems and gastrointestinal (GI) issues occur frequently in children with ASD. This study examines the relationship between the three and finds that sensory over-responsivity and anxiety are highly associated and linked to GI problems.
This is the first randomized controlled trial demonstrating the efficacy of mindfulness-based therapy for adults with ASD. Participants who received MBT benefited from the therapy, showing less depression, anxiety and rumination, and more positive affect.
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 […]
Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case StudiesPublished 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).
Emergency room visits for children with ASD are more likely to be for psychiatric reasons than visits from typically developing children. Having private insurance increases the risk of a psychiatric ER visit for children with ASD, possibly due to the exclusion of ASD as a coverable diagnosis among many private insurance plans.
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.
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.
According to this recent meta-analysis of fMRI studies, autism-related changes in brain activity may continue to develop with age.
SFARI’s top ten autism research papers of 2012
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.
UCSD researchers suggest genes linked to autism have higher mutation rates than other genes.
The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum DisordersPublished 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.
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.”
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.
Controlled-Release Melatonin, Singly and Combined with Cognitive Behavioural Therapy, for Persistent Insomnia in Children with Autism Spectrum Disorders: a Randomized Placebo-Controlled TrialPublished 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.
Dr. Gabriel Dichter presents a new review of fMRI research in ASD, noting common themes of atypical activation and functional connectivity in the brain.
This study looks at the incidence of autism-spectrum disorder (ASD) in children born to Scandinavian immigrants as well as the incidence of ASD in children born to native Dutch parents.
A new method developed in the Rutgers Sensory Motor Integration Lab may reveal the typicality of a child’s development. The technique measures slight fluctuations in body movement and compares them to motion patterns seen in typically developing individuals.
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.
Researchers uncover a connection between exposure to traffic-related pollutants and autism risk. Findings suggest children living in high pollution areas are three times more likely to have autism compared to those living in low pollution areas.
Neonatal Levels of Cytokines and Risk of Autism Spectrum Disorders: An Exploratory Register-based Historic Birth Cohort Study Utilizing the Danish Newborn Screening BiobankPublished 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.”
Maternal Autism-Associated IgG Antibodies Delay Development and Produce Anxiety In A Mouse Gestational Transfer ModelPublished 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.”
De novo mutations in six genes may contribute to 1% of simplex ASD cases.
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.
DSM-5 Field Trials in the United States and Canada, Part II: Test-Retest Reliability of Selected Categorical DiagnosesPublished October 30, 2012 in American Journal of Psychiatry
“OBJECTIVE The DSM-5 Field Trials were designed to obtain precise (standard error <0.1) estimates of the intraclass kappa as a measure of the degree to which two clinicians could independently agree on the presence or absence of selected DSM-5 diagnoses when the same patient was interviewed on separate occasions, in clinical settings, and evaluated with usual clinical interview methods.”
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.
Researchers identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.
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.
Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children with DSM-IV Diagnoses of Pervasive Developmental DisordersPublished October 1, 2012 in The American Journal of Psychiatry
“OBJECTIVE: Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.CONCLUSIONS: These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger’s disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.”
Precursors to Social and Communication Difficulties in Infants At-Risk for Autism: Gaze Following and Attentional EngagementPublished October 1, 2012 in Journal of Autism and Developmental Disorders
“Whilst joint attention (JA) impairments in autism have been widely studied, little is known about the early development of gaze following, a precursor to establishing JA. We employed eye-tracking to record gaze following longitudinally in infants with and without a family history of autism spectrum disorder (ASD) at 7 and 13 months. No group difference was found between at-risk and low-risk infants in gaze following behaviour at either age. However, despite following gaze successfully at 13 months, at-risk infants with later emerging socio-communication difficulties (both those with ASD and atypical development at 36 months of age) allocated less attention to the congruent object compared to typically developing at-risk siblings and low-risk controls. The findings suggest that the subtle emergence of difficulties in JA in infancy may be related to ASD and other atypical outcomes.”
Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: a Randomized, Controlled, Phase 2 TrialPublished 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.
“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. “
Arboclofen Has Potential to Improve Social Function and Behavior in Patients with Fragile X SyndromePublished 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.
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.
Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.
“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.”
NIH Announces Autism ACE Center and Network grant recipients. NIH has awarded $100 million for the Autism Centers of Excellence Program. Nine grantees will receive research funding over the next five years.
“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.”
“We have followed up a 2002 population study of autism prevalence in 15-24-year olds in the Faroe Islands. The rate of ASD grew significantly from 0.56% in 2002 to 0.94% in 2009. Although these results are within the range of typical findings from other studies, there were some interesting details. There were-in addition to 43 originally diagnosed cases in 2002-24 newly discovered cases in 2009 and nearly half of them were females. It is possible that unfamiliarity with the clinical presentation of autism in females have played a significant role in this context. There was diagnostic stability for the overall category of ASD over time in the group diagnosed in childhood (7-16) years, but considerable variability as regards diagnostic sub-groupings.”
“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.”
Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.
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.
“The current study investigated early temperament in 54 infants at familial high-risk of ASD and 50 controls. Parental report of temperament was assessed around 7, 14 and 24 months of age and diagnostic assessment was conducted at 3 years. The high-risk group showed reduced Surgency at 7 and 14 months and reduced Effortful Control at 14 and 24 months, compared to controls. High-risk infants later diagnosed with ASD were distinguished from controls by a temperament profile marked by increased Perceptual Sensitivity from the first year of life, and increased Negative Affect and reduced Cuddliness in the second year of life. Temperament may be an important construct for understanding the early infant development of ASD.”
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.
These observations shed light on the importance of the father’s age on the risk of diseases such as schizophrenia and autism.
“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.”
“In this review, we examine the ways in which researchers have defined successful adult outcomes for individuals with autism spectrum disorders (ASDs) from the first systematic follow-up reports to the present day. The earliest outcome studies used vague and unreliable outcome criteria, and institutionalization was a common marker of poor outcomes. In the past decade, researchers have begun to standardize the measurement of adult outcomes with specific criteria based on friendships, employment, and living arrangements. Although nearly all of these studies have agreed that the majority of adults with ASD have poor outcomes, evolving concepts of what it means to be an adult could have an impact on outcomes measured. For example, some researchers have suggested that taking into account the person-environment fit could reveal a more optimistic picture of outcomes for these adults. Suggestions for future research are discussed.”
“The First Year Inventory is a parent-report measure designed to identify 12-month-old infants at risk for autism spectrum disorder. First Year Inventory taps behaviors that indicate risk in the developmental domains of sensory-regulatory and social-communication functioning. This longitudinal study is a follow-up of 699 children at 3 years of age from a community sample whose parents completed the First Year Inventory when their children were 12 months old. Parents of all 699 children completed the Social Responsiveness Scale-Preschool version and the Developmental Concerns Questionnaire to determine age 3 developmental outcomes. In addition, children deemed at risk for autism spectrum disorder based on liberal cut points on the First Year Inventory, Social Responsiveness Scale-Preschool, and/or Developmental Concerns Questionnaire were invited for in-person diagnostic evaluations. We found 9 children who had a confirmed diagnosis of autism spectrum disorder from the sample of 699. Receiver operating characteristic analyses determined that a two-domain cutoff score yielded optimal classification of children: 31% of those meeting algorithm cutoffs had autism spectrum disorder and 85% had a developmental disability or concern by age 3. These results suggest that the First Year Inventory is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of autism spectrum disorder.”
Children of migrant parents may be at greater risk of low-functioning autism spectrum disorder, but lower risk of high-functioning autism spectrum disorder.
Results of this study show that while children of migrant parents are at an increased risk of low-functioning autism, they are at a decreased risk for high-functioning autism. Researchers call for further research to determine if environmental factors associated with migration influence the development of autism.
How Different Are Girls and Boys Above and Below the Diagnostic Threshold for Autism Spectrum Disorders?Published August 1, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry
A study finds that despite showing similar autistic traits, girls are less likely than boys to meet diagnostic criteria for ASD if no other intellectual or behavioral issues are present. The authors suggest the results might reflect biased diagnosis or better adaptation in girls.
Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.
“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.”
The influence of genetic mutations on the burden of any genetic disease can usefully be determined using family-based whole-genome or whole-exome sequencing approaches.
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.
“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.”
A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental DisabilitiesPublished 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.
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.
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.
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
A Stable Pattern of EEG Spectral Coherence Distinguishes Children with Autism From Neuro-typical Controls – A Large Case Control StudyPublished 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)."
Differences in the nature of the trajectories of EEG power represent important endophenotypes of ASD.
“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.”
“Early identification of autism has become a national priority but, despite efforts, there are children who are being identified at a later age. In this study, children of Hispanic and African American origin, foreign-born children, and children born to foreign mothers were more likely to be diagnosed later.”
Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.
Differences in White Matter Fiber Tract Development Present from 6 to 24 Months in Infants with Autism.Published June 1, 2012 in American Journal of Psychiatry
Research suggests that aberrant development of white matter pathways may precede the manifestation of autistic symptoms in the first year of life.
“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). “
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.
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
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.
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.
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.
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
“The language difficulties often seen in individuals with autism might stem from an inability to integrate audiovisual information, a skill important for language development. We investigated whether 9-month-old siblings of older children with autism, who are at an increased risk of developing autism, are able to integrate audiovisual speech cues.”
Derivation of Autism Spectrum Disorder-specific Induced Pluripotent Stem Cells from Peripheral Blood Mononuclear CellsPublished 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.”
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.
Maternal MCs may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.
“OBJECTIVE: The goal of this study was to describe the typical longitudinal developmental trajectories of social and communication functioning in children with autism and to determine the correlates of these trajectories.RESULTS: Six typical patterns of social, communication, and repetitive behavior functioning were identified. These trajectories displayed significant heterogeneity in developmental pathways, and children whose symptoms were least severe at first diagnosis tended to improve more rapidly than those severely affected. “
FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.
Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of AutismPublished 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.
Atypical Brain Activation Patterns During a Face-to-Face Joint Attention Game in Adults with Autism Spectrum Disorder.Published April 16, 2012 in Human Brain Mapping
Researchers used fMRI while participants played a joint-attention game to better understand the neural correlates of joint attention.
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.
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.
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.
Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.
Control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.
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.
“CONCLUSIONS: Proposed DSM-5 criteria could substantially alter the composition of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion of cognitively able individuals and those with ASDs other than autistic disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research.”
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.
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
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.
“OBJECTIVE: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites.CONCLUSION: Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function.”
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.
“Autism spectrum disorders (henceforth autism) are diagnosed in around 1% of the population . 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 . 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.”
Genetic and Functional Analyses of SHANK2 Mutations Suggest A Multiple Hit Model of Autism Spectrum DisordersPublished 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.”
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 ControlsPublished 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.
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.
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.
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 […]