Fragile X syndrome

Abstract

Fragile X syndrome and the associated disorders account for a wide range of clinical symptoms that require proper behavioral and pharmacological intervention. Early diagnosis is crucial to maximizing successful interventions and once one child is diagnosed, families should be referred for genetic counseling to establish the possible implications for additional family members and future family planning. This section reviews the phenotypes and neurobiology of the full mutation and premutation as well as possible potential interventions for both sets of patients.