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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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The IMFAR wrap-up titled “Heterogeneity in autism: we aren’t going to take it anymore”

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This week’s International Meeting for Autism Research was filled with important presentations on the multiple causes of autism, interventions, diagnosis, neurobiology, services, family and self-advocate perspectives, the list goes on and on.  There is a great recap on www.spectrumnews.org.  An underlying theme ran through the presentations.  That is, that the previous “well, we don’t see differences because there is lots of heterogeneity in autism” explanation isn’t cutting it anymore.  We know people with autism are different, and parents, self-advocates and researchers are starting to deal with it by stratifying groups by their genetic backgrounds.  While not a complete solution to this challenge, research at IMFAR shows that identifying different subgroups based on genetics is helping to explain symptoms.

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Those confusing folate findings explained

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During IMFAR, a study was presented that showed that women with very high levels of folate during pregnancy showed an increased risk of having a child with autism. The media took this to mean that taking too many prenatal vitamins caused autism. ugh. This week, those findings are discussed. Also published this week is a well-designed, long awaited study which examines the theory that too little folate in the central nervous system is the culprit behind autism. Too little folate in the brain is not the culprit, and too much in the blood may be coincidental to something else causing autism. It’s important to have a balance so don’t hesitate to take a prenatal if you are trying to get pregnant.

Also, because you may be IMFAR’d out – we highlight the exciting findings that cognitive behavioral therapy for treating anxiety in people with ASD is not only effective in clinical settings, but in school settings. This has implications people with ASD in special needs classrooms who need treatments for anxiety.