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ASD in the “next generation” of siblings

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Times have changed. Once, parents of a child with autism were concerned about autism in younger siblings. Now those parents are grandparents, and worried about autism in their children’s children. Siblings of autistic adults are considering having children of their own and wondering what they should be prepared for when they have kids of their own. This week, Natasha Marrus from Washington University School of Medicine talks about her new study looking at the increase in probability of ASD in infants who have an aunt or an uncle with ASD. The results are not surprising, but they do have implications for actionable steps.

https://www.sciencedirect.com/science/article/pii/S0006322320313846?via%3Dihub

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What sperm tells scientists about the origins of ASD

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Does autism begin at a diagnosis, or before a diagnosis?  How early do genetics influence outcome?  This podcast explores a new angle to this question using studies in sperm.  One type of major ASD relevant mutation is de-novo mutations, meaning they are seen in the person with ASD but neither biological parent.  So where do they come from?  They may come from germ cells of the embryo of the parent, which forms the sperm and the egg.  Researchers from UCSD looked at mutations in sperm vs. blood in fathers of those with de-novo mutations and found an enrichment of genetic mutations in sperm.  This means the window of susceptibility can include not just things that happen at conception, but before conception.  Below is a graphic taken from a commentary of this study in Nature by Eric Morrow which may be helpful.

 

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What is the focus this week? The unsung heroes of grandparents and clinicians

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Scientists have studied males compared to females with autism, but rarely has there been studies about what clinicians see as differences in these two groups.  Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism did just that.  You can find the full text here:

http://journals.sagepub.com/eprint/V5p3isSVAKDbdQf2jH4Q/full

Also, scientists are starting to understand the role of exposures in parents and how they affect diagnosis of autism in their children, but this week a new wrench was thrown into the wheel:  researchers in the UK found that grandparental exposures play a role in autism diagnosis too.  Luckily, this too is open access and you can read it for yourself.  It was covered in the media and we have perspective from a parent included.

https://www.nature.com/articles/srep46179

I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.