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Why developmental milestones are so telling

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Thanks to Dr. Susan Kuo at Broad Research Institute and MIT, there is an analysis of 17,000 individuals with autism across 4 different studies that all looked at how developmental milestones emerged. The results show a great deal of diversity – across different studies, time, intellectual disability and genetic background. Different groups of people with autism have different experiences based on some commonalities. But all people with autism showed a delay in many milestones. They are important for understanding people with autism, changes across time in the diagnostic criteria, and their impact on later abilities.

https://jamanetwork.com/journals/jamapediatrics/article-abstract/2794306?utm_campaign=articlePDF&utm_medium=articlePDFlink&utm_source=articlePDF&utm_content=jamapediatrics.2022.2423

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A new understanding of autism genetics

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Lots of people tend to think of the genetics of disorders or disease about one mutation or genetic variation that is inherited from the mother or the father, that causes a trait directly.  Unfortunately, the genetics of autism isn’t that simple or scientists would have found “the gene” by now.  In fact, there are different types of genetic influences in autism.  A new study in Nature Genetics led by Elise Robinson shows how common variation influences autism risk, as well as intellectual function in autism, compared to de novo mutations.  There is a short primer at the beginning of the podcast about old-school genetic thinking and why it doesn’t apply to ASD.  Below is the picture mentioned.

 

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