On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published. The press release can be found here. In it, the researchers found even more genes of interest to autism. Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms. But of course, the story gets more complicated than just more mutations – worse behavior. An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different. This shows that adaptive behavior and IQ are important to consider when considering how genetics influence autism symptoms. Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism. Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals. It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.
Most people with autism have some sort of sensory issue. This week, researchers at University of Wisconsin and University of North Carolina create new categories of sensory challenges in people with autism to figure out if they can predict functioning. The story is complicated (isn’t it always) but the findings that certain sensory subtypes lead to different adaptive outcomes. This information will help different groups people with autism rather than lumping them together. Also, this podcast discusses new findings on the risk of psychiatric problems in siblings of people with an autism diagnosis. Normally the literature focuses on people with autism, and as it turns out, siblings need extra attention as well.