alexa Diagnosis and management of autism spectrum disorder in the era of genomics: rare disorders can pave the way for targeted treatments.
Neurology

Neurology

Autism-Open Access

Author(s): Baker E, Jeste SS

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Abstract Although the diagnosis of autism spectrum disorder (ASD) is based on behavioral signs and symptoms, the evaluation of a child with ASD has become increasingly focused on the identification of the genetic etiology of the disorder. In this review, we begin with a clinical overview of ASD, highlighting the heterogeneity of the disorder. We then discuss the genetics of ASD and present updated guidelines on genetic testing. We then consider the insights gained from the identification of both single gene disorders and rare variants, with regard to clinical phenomenology and potential treatment targets. Copyright © 2015 Elsevier Inc. All rights reserved.
This article was published in Pediatr Clin North Am and referenced in Autism-Open Access

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