Raspa M, Sacco P, Bailey DB, Visootsak J, Cabo R. Clinical unmet needs and burden in Fragile X syndrome: results of a targeted literature review. Poster presented at the 2018 AMCP Managed Care & Specialty Pharmacy Annual Meeting; April 23, 2018. Boston, MA. [abstract] J Manag Care Pharm. 2018 Apr 24; 24(4-a):S7. Previously presented at the American Association on Intellectual and Development Disabilities 141st Annual Meeting.

OBJECTIVE: An updated review of literature was conducted to characterize the clinical unmet needs and burden associated with Fragile X syndrome (FXS).

BACKGROUND: FXS is the most common inherited cause of intellectual disability, and is caused by a mutation in the X chromosome on the fragile X mental retardation 1 (FMR1) gene. The full gene mutation can cause significant intellectual disability, greatly reduce functional abilities, education achievement, and social-emotional skills.

DESIGN/METHODS: PubMed served as the primary database for the electronic literature search. Abstracts were reviewed based on predefined criteria between 2006–2016, focusing on epidemiology, genetics, natural history, caregiver burden, treatment, guidelines, resource utilization and costs.

RESULTS: The original search yielded 4,698 unique articles. Following a review, 530 were retained, and 244 were summarized and cited. A majority of individuals experience anxiety and behavioral issues, such as attention problems, hyperactivity, mood instability, aggression, and self-injurious behavior. A variety of symptom-specific medications are used; these medications are reported as only being somewhat effective. Direct costs vary depending on the type of insurance coverage, with approximate median annual costs in the United States of $2500 to $7500 per patient. Indirect costs to families include time off from work, turning down a promotion, or changing jobs to ensure better work hours. Family quality of life is affected, with reports of low levels of social support and higher parenting stress.

CONCLUSIONS: There is a large volume of literature describing the FXS phenotype and emerging evidence on economic and caregiver burden. Despite the availability of symptom-specific medications, there is no treatment available that targets the etiology of FXS. A better understanding of anxiety and the precursors to behavioral issues as well as development of targeted medications is needed. Finally, there is a need for more comprehensive understanding of the impact of FXS on the family unit.

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