Connecting genes to brain in the autism spectrum disorders

Abstract

The autism spectrum disorders (ASDs) are a complex group of neuropsychiatric conditions involving language, social communication, and mental flexibility. Here, we attempt to place recent genetic advances within a developmental and anatomical context. Recent progress in identifying ASD candidate genes supports involvement of multiple brain regions, including the frontal lobes, anterior temporal lobes, caudate, and cerebellum. Understanding genetic data within an anatomical context will be critical to explain how individual risk factors operate to shape phenotypic presentation in patients.

Figure

Methodological changes have accelerated progress in autism spectrum disorder (ASD) genetics. The collection of large cohorts via international collaboration together with array-based technologies permitting genome-wide interrogation of genetic variation has resulted in major advances. Similar progress will come from massively parallel sequencing of partial and whole genomes. Although such experiments are soon likely to become routine, interpretation of results, particularly in the context of diverse phenotype data, will require massive computational infrastructure. ADOS indicates Autism Diagnostic Observation Schedule; ADI-R, Autism Diagnostic Interview–Revised; CNV, copy number variation; and SNP, single-nucleotide polymorphism.