Autism and related disorders

Abstract

The search for the molecular basis of autism is challenging. The high heritability of the disorder led to great optimism that traditional linkage methods would rapidly identify disease genes for this phenotypically complex disorder and provide a means for understanding its underlying pathophysiology in the same way that the identification of the MeCP3 gene provided the impetus for major advances in the understanding of Rett Syndrome. Similarly, structural neuroimaging studies and neurochemical investigations of serotonin initially met with considerable optimism. In each of these cases, unexpected deficiencies of the methods coupled with heterogeneity in autism limited progress. Researchers have responded by developing more sensitive methods and by more precisely defining subject and control groups with particular attention to narrowly defined phenotypes, age, cognitive ability, and gender. There has been particular emphasis on taking a developmental perspective, especially regarding imaging and studies of brain chemistry and function. © 2006 Humana Press Inc.