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ERIC Number: EJ904444
Record Type: Journal
Publication Date: 2004-Nov
Pages: 8
Abstractor: As Provided
Reference Count: 75
ISSN: ISSN-1080-4013
Autism and 15q11-q13 Disorders: Behavioral, Genetic, and Pathophysiological Issues
Dykens, Elisabeth M.; Sutcliffe, James S.; Levitt, Pat
Mental Retardation and Developmental Disabilities Research Reviews, v10 n4 p284-291 Nov 2004
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. (Contains 2 figures.)
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Publication Type: Journal Articles; Reports - Evaluative
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A