The behavioural phenotype of Angelman syndrome

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.

Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described.

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.

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.