Raspa M, Sacco P, Bailey, Jr 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 70th Annual AAN Meeting; April 24, 2018. Los Angeles, CA. [abstract] Neurology. 2018 Apr 10; 90(15 Supplement):3.314. 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.

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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