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

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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

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What we know about autism by looking in the brain

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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. 

 

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

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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.

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

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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.