Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.
Shruti GargAmi BrooksAmy BurnsEmma Burkitt-WrightBronwyn KerrSusan HusonRichard EmsleyJonathan GreenPublished in: Developmental medicine and child neurology (2017)
This is the first systematic study to suggest a high prevalence of ASD in Noonan and CFC syndromes, and thus offers crucial evidence to support the importance of the Ras/MAPK pathway in the aetiology of ASD. Limitations include the inevitable possibility of a sampling bias in a rare disorder study of this kind.