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The 2021 Day of Learning Quickie

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If you missed this year’s Day of Learning, the videos will be up soon. But if you are a podcast listener, you can listen a 20 minute recap on this week’s podcast. The topics included the effects of the pandemic on family functioning and clinician diagnosis and assessments, lessons learned through the pandemic, the role of the social justice movement in autism, personalized medicine, an explanation of SUDEP, short for sudden unexplained death in epilepsy, and new information on CBD or cannabidiol. It’s not a substitute for watching it live and being able to ask questions of the speakers, but it touches on the main themes.

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Autism genes that are seen in everyone

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This was a very genetics-centric week because of two exciting new publications that focused on genetic risk factors.  In the first, Dr. William Brandler at UCSD demonstrates that mutations in autism risk genes come in all sorts of different forms, but they must be in the right genes to lead to a diagnosis.  Just having different mutations is not enough. Also,  in an intriguing analysis led by Dr. Elise Robinson at the Broad Institute (and also summarized on SpectrumNews), she looked at these autism risk genes in people without autism and found that we all have them.  Reiterating what Dr. Brandler found, she showed that the spectrum of autism genetics may be broader than the spectrum of an autism diagnosis.  It may explain symptoms of autism without a diagnosis in family members as well.