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Intellectual Disabilities

Syndromes, phenotypes and genotypes - Finding the links

Anthony Holland demonstrates how analysis of both genes and behaviour can illuminate research and clinical practice in learning disability.

18 May 1999

A major challenge in both clinical practice and research in the field of learning disability is to identify its causes: the genetic, chromosomal and environmentally determined factors that have a major influence on a person’s development and on the presence or absence of distinct patterns of impairment or problem behaviours. In this article, I argue that recognising the links between specific causes and ‘behavioural phenotypes’ may both guide clinical intervention as well as help answer important research questions.

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