UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism spectrum disorder.
The new study, published in the Proceedings of the National Academy of Sciences, also provides genetic evidence that language delay and dysfunction should be reconsidered as a core component of autism.
Most genetic studies of autism have focused on families with one child affected by the neurodevelopmental disorder, sometimes excluding families with multiple affected children. As a result, few studies have examined the role of rare inherited variation or its interaction with the combined effect of multiple common genetic variations that contribute to the risk of developing autism.
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