Narrowing down gene and environment interactions in autism

With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start?  Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex.  Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection.  In other words, being male and having the mutation produced small changes, increased by the environmental factor.  In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15.  Typically, mutations of this area of the genome are thought to cause autism.  However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations.  These are all examples of scientific breakthroughs that are helping better understand what causes autism.  Even when it looks like one thing, it’s multiple things.

New science for those with little or no language

Even though more than 20% of people with autism have little or no language, research into ways to help this group have really been lacking.  Several efforts to not just understand the abilities and disabilities of this group started a few years ago and we are just starting to hear about what works and what doesn’t work to improve communication in those with little or no language.  This podcast summarizes the evidence, which points to combinations of things, rather than things in isolation, and peeks in on ways in which interventions can be better directed and made more effective.

A message for MLK’s birthday and a better way diagnose anxiety

Happy MLK day – a day when we recognize a man for his contribution in justice, tolerance, equality and service, I highlight a supreme court case which affects how those with special needs are fighting for justice and equality.   Also, over the holidays, Dr. Connor Kerns from Drexel University published how a new tool to diagnose anxiety in those with autism was validated, setting the stage for its use by physicians and clinicians who don’t have a lot of experience with autism to help better understand the symptoms of their patients.

Why is there a link between c-sections and autism?

Happy New Year!  Over the holiday break, a the largest study so far including the most number of countries analyzed the risk of having a c-section and autism.  They found a consistent increase risk that wasn’t due to cause of the c-section or the age of the infant (preemie or term).  So what is going on?  This week’s podcast warns against the unintended consequences of linking c-sections to autism and offers an explanation of the findings in addition to what the study authors provide.

And now….the 2016 year end summary of autism science

The year 2016 was eventful for many reasons.  In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD.  Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling”  This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome.  It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD.  We hope you find it informative – please send comments to ahalladay@autismsciencefoundation.org

What we know about autism by looking in the brain

On December 13, 2016, Dr. Matthew Anderson from Beth Isreal Deaconess Medical Center presented a 45 minute webinar on recent findings in autism thanks to studying the brains of people with autism.  It covers genetics, neuropathology and immunology.  It’s a great chance to hear a quick recap of findings from an Autism BrainNet node director.  Please click above to watch the 45 minute presentation and questions from the audience.   Most importantly, anyone can be a part of this important research by registering to learn more about the Autism BrainNet at www.takesbrains.org. 


 

Why is it so hard to look them in the eye?

There is an ongoing debate about why people with autism avoid eye contact.  There is data to support both, but as this behavior emerges very early, it’s important to look at data from preverbal children to understand the origins of changes in eye contact.  Many scientists also feel that avoiding eye contact snowballs over the lifespan and deprives people with autism from developing social skills.  Infants don’t even know why they avoid eye contact so at the Marcus Autism Center in Atlanta, researchers are using eye tracking technology to answer this question.  The findings have clear implications for early intervention strategies.

Another gene that causes autism and what families are doing about it

A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile.  But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism.  This may put it into the category of the rare mutations that have a major contribution to autism symptoms.   In addition to autism, mutations of these gene are associated with seizures and epilepsy.  Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation.  This week’s podcast includes a message from one of the leaders of this foundation:  FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.

Brain signals improve the efficacy of behavioral interventions

Biomarkers can help distinguish different types of features but this week they were used to predict who would respond to Pivotal Response Training, or PRT.  Researchers, led by Pam Ventral at Yale looked at how the brain responded to a social or non social situation as well as baseline features on standardized measures.  Remarkably, these brain signatures were better at standard behavioral assessments at determining who would respond most positively to PRT.  This study has enormous implications for personalized medicine approach and demonstrates how early studies in biomarkers many years ago have paid off for those with autism.

The potential role of epigenetics in the sex differences in autism

On Tuesday November 15th, Tracy Bale from University of Pennsylvania provided an insightful analysis of sex differences in behavioral, physiological and molecular outcomes following prenatal stress.  She outlined the potential epigenetic markers that may lead to resilience in female offspring which has direct implications for autism.  However, prior to Dr. Bale’s presentation, Donna Werling from UCSF briefly outlined the genetic and behavioral data so far about females with autism and why there is a 4:1 ratio in males to females getting a diagnosis.  This webinar is part of the Environmental Epigenetics of Autism Webinar Series co-organized by Autism Science Foundation, Autism Speaks and the Escher Family Fund for Autism.