Autism is a highly heterogeneous neurodevelopmental disorder with impaired language, social communication, and restricted and repetitive interests and behavior. Monogenic developmental brain disorders with autism features such as Rett syndrome, Angelman syndrome, Fragile X syndrome, and others provide important tractable models of relevance to severe autism. In addition to observing autism symptoms in the monogenic condition, if the gene responsible is also significantly misregulated in the brains of people with idiopathic autism, then these data provide substantial independent support for the importance of the gene in autism pathophysiology.
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Schwede et al. (2013) studied this question.
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