title: Diagnosis and management of autism spectrum disorder in the era of genomics: rare disorders can pave the way for targeted treatments.
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.
authors.affiliation: Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, UCLA, 760 Westwood Plaza, Los Angeles, CA 90095, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Baker
authors.affiliation: Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, UCLA, 760 Westwood Plaza, Los Angeles, CA 90095, USA. Electronic address: sjeste@mednet.ucla.edu.
authors.forename: Shafali Spurling
authors.initials: SS
authors.lastname: Jeste
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*; D018628:Gene Dosage; D005820:Genetic Testing; D023281:Genomics; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017410:Practice Guidelines as Topic; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
keywords: Autism spectrum disorders; Chromosomal microarray; Copy number variants; Genetics; Neurodevelopmental disorders; Whole-exome sequencing