Send to

Choose Destination
Nat Rev Neurol. 2014 Feb;10(2):74-81. doi: 10.1038/nrneurol.2013.278. Epub 2014 Jan 28.

Disentangling the heterogeneity of autism spectrum disorder through genetic findings.

Author information

Semel Institute for Neuroscience and Human Behavior, 760 Westwood Plaza, Suite 68-237, Los Angeles, CA 90064, USA.
University of California Los Angeles, Los Angeles, CA 90095, USA.


Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes-single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities-that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment.

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center