A mother-of-four from Cradley Heath, near Birmingham, has spoken of her two-year-old daughter's diagnosis with an extremely rare disorder, discovered by chance during an unrelated hospital visit.

Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, ...

Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison. The ...