The fragile-X syndrome. On the way to a behavioural phenotype

Abstract

The fragile-X syndrome accounts for up to 10% of individuals with mental handicap, and 50% of cases of X-linked mental retardation. Knowledge of the genetic basis of mental functioning, psychopathology, and neuropsychology is being furthered by this recently recognised condition. The disorder has considerable significance for psychiatrists, particularly, but by no means exclusively, those working in the field of mental handicap and with children. This review outlines the slow clarification of this complex and important behavioural phenotype and the implications of these advances for identification, diagnosis, genetic counselling and a wide range of management interventions.