PURPOSE OF REVIEW: The purpose of this review is to provide an overview of current research and clinical practice guidelines in fragile X syndrome (FXS) with regard to therapeutic approaches in the management of this condition. The authors summarize and discuss findings from relevant preclinical studies and results from clinical trials in human subjects with FXS. Additionally, we provide an outline of the basic framework for understanding and providing educational and psychosocial supports for these individuals.

RECENT FINDINGS: Current treatments in FXS are largely symptom based and focused on managing associated psychiatric and behavioral co-morbidities. While data from animal studies has been promising in providing targeted treatments to correct the underlying deficits at the cellular level, there have not been as robust findings in human trials. There are several targeted treatments for FXS currently under development.

SUMMARY: Individuals with FXS present with several behavioral challenges including anxiety, social withdrawal, ADHD, hyperarousal, self-injury, and aggression. Therapeutic services are often necessary, such as behavioral intervention, speech and language therapy, occupational therapy, and individualized educational support; adjunctive psychopharmacologic treatment is often helpful as well. It is important to address these symptoms and weigh the evidence for the use of medications that target the underlying neurobiology and pathophysiology of the syndrome.