title: Links between genetics and pathophysiology in the autism spectrum disorders.
abstract: Autism spectrum disorders (ASD) are important neuropsychiatric disorders, currently estimated to affect approximately 1% of children, with considerable emotional and financial costs. Significant collaborative effort has been made over the last 15 years in an attempt to unravel the genetic mechanisms underlying these conditions. This has led to important discoveries, both of the roles of specific genes, as well as larger scale chromosomal copy number changes. Here, we summarize some of the latest genetic findings in the field of ASD and attempt to link them with the results of pathophysiological studies to provide an overall picture of at least one of the mechanisms by which ASD may develop.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Holt
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000503:physiopathology*; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn