Advances in Genetic Diagnosis of Autism Spectrum Disorders

Abstract

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental abnormalities characterized by stereotypical communicative and social impairments, affecting 1 in 88 children in the United States. Both genetic and environmental factors contribute to the etiology of ASD. Autistic traits may be part of features associated with certain syndromes or the sole clinical presentation. Due to extreme heterogeneity and variable expressivity of the condition, clinical diagnosis and management have been challenging. Major advances in genomic technologies, computing power, and bioinformatics analyses have resulted in the accelerated discovery of novel genes and risk loci associated with both inherited and sporadic forms of ASD. Pathogenic genetic defects related to ASD range from single nucleotide variation to gross chromosomal abnormalities. In this review, we first summarize the current understanding of the genetic etiology of ASD; we then discuss how genetic diagnostics may influence the management and genetic counseling of ASD; and finally, we outline the strategy to integrate genetic tests into clinical care of children with ASD. We hope to inform primary care pediatricians and clinical genetic specialists how recent advances in the genetic research of ASD have been translated into clinical genetic testing for patients.