New Therapeutic Options for Fragile X Syndrome

UMMS Affiliation

Eunice Kennedy Shriver Center; Department of Psychiatry

Publication Date


Document Type



Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Mental and Social Health | Nervous System Diseases | Neurology | Pediatrics | Pharmaceutics and Drug Design | Psychiatry | Psychiatry and Psychology | Therapeutics


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.


Drug development, Fragile X syndrome, Pharmacotherapy, Supportive therapies, Targeted treatments

DOI of Published Version



Curr Treat Options Neurol. 2019 Feb 27;21(3):12. doi: 10.1007/s11940-019-0551-8. Link to article on publisher's site

Journal/Book/Conference Title

Current treatment options in neurology

Related Resources

Link to Article in PubMed

PubMed ID