Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.
New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to features of chromosome 15q11-q13 disorders. Paternally or maternally derived deficiencies of 15q11-q13 result in Prader-Willi or Angelman syndromes, and we first use a global approach to review potential autism susceptibility genes in the 15q11-q13 region. We then use a more trait-based approach to suggest possible ties between specific phenotypic characteristics of autism and Prader-Willi syndrome, namely savant-like skills. We conclude with insights from pathophysiological studies that implicate altered development of specific neuron types and circuits in the cerebral cortex as part of the pathophysiological processes associated with autism and mental retardation.
Dykens
Elisabeth M
EM
Department of Psychology and Human Development, Vanderbilt Kennedy Center for Research on Human Development, 230 Appleton Place, Peabody Box 40, Nashville, TN 37203, USA. elisabeth.dykens@vanderbilt.edu
Sutcliffe
James S
JS
Levitt
Pat
P
D000818:Animals; D001321:Autistic Disorder / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D001921:Brain / Q000503:physiopathology*; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D007395:Interneurons / Q000378:metabolism; D001523:Mental Disorders / Q000209:etiology*; D010641:Phenotype; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D005680:gamma-Aminobutyric Acid