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.
Key points
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Like all neurodevelopmental disorders, ASD is a heterogeneous group of disorders characterized by a constellation of symptoms and behaviors that occur in early development.
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Genetic testing is the only standard medical workup recommended for all children diagnosed with ASD; more than 25% of children with ASD have an identified genetic cause.
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Clinical features, particularly presence of intellectual disability, epilepsy, motor impairment, or certain dysmorphic features, support a likely underlying genetic etiology.
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The comorbidity of intellectual disability and ASD requires that future studies carefully examine early developmental trajectories and cognitive abilities in these genetic variants and syndromes, so as to confirm the diagnostic specificity of ASD.
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Common phenotypes and natural history studies within genetic syndromes can help to inform prognosis and treatment targets.
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