Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders

July 2, 2018 0 By CH Unnikrishnan

Mari Rossi LPhil et al found evidence supporting the importance of diagnostic exome sequencing for patients with autism spectrum disorder or autistic features traditional sequential or panel testing. Diagnostic exome sequencing in a cohort of 163 individuals with autism found that among the positive finding in the patients with autism spectrum disorder or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia or paraplegia in addition to autism spectrum disorder or autistic features were significantly more likely to receive positive results compared with patients without these clinical features. Results suggest diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features.