Disruptive CHD8 mutations define a subtype of autism early in development
Original research article by R. Bernier et al. (2014).
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In this study, 3,730 children and adults with a diagnosis of autism or developmental delay were tested for changes in the CHD8 gene. Of this group, 15 were found to have changes in CHD8. The majority of these gene changes were not inherited from either parent. The majority of the 15 met the diagnostic criteria for autism (13/15), had subtle differences in their facial features, and had a larger-than-average head size. The majority also had constipation and sleep and attention issues. The others had few health or behavior concerns.