ERIC Number: EJ723016
Record Type: Journal
Publication Date: 2006-Jan
Pages: 21
Abstractor: Author
ISBN: N/A
ISSN: ISSN-0964-2633
EISSN: N/A
The Behavioural Phenotype of Angelman Syndrome
Horsler, K.; Oliver, C.
Journal of Intellectual Disability Research, v50 n1 p33-53 Jan 2006
Background: The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation. Methods: Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described. Results: Potential bias in the description of the phenotype emerges with the use of case and cohort studies with the absence of comparison groups. A trend in the literature from a direct gene effect to a socially mediated effect on laughter is evident. Conclusion: Evidence for a behavioural phenotype of Angelman syndrome has begun to emerge. However, by adopting the concept of a "behavioural phenotype", attention may become biased towards the underlying biological basis of the syndrome, with developmental and environmental factors being overlooked.
Descriptors: Symptoms (Individual Disorders), Individual Characteristics, Genetics, Heredity, Disabilities, Environmental Influences, Developmental Delays, Clinical Diagnosis
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A