The economic burden of fragile x syndrome: healthcare resource utilization in the United States.

backgroundFragile X syndrome (FXS) is the most common inherited form of intellectual disability with cognitive and behavioral impairments, and is associated with a lifetime of care-taking challenges. There is a paucity of data on the economic burden of FXS.

objectiveTo analyze the direct costs associated with healthcare and medication utilization for patients with FXS by using commercial and Medicare/Medicaid administrative claims data.

methodsAll-cause direct healthcare and prescription drug utilization were analyzed from the Thomson Reuters Healthcare MarketScan Commercial, the Medicare Supplemental, and the MarketScan Medicaid databases between 2004 and 2009. Inclusion criteria were ≥1 diagnosis of FXS (International Classification of Diseases, Ninth Revision, 759.83) and ≥12 months of continuous enrollment in the current health plan. Emergency department, hospitalization, outpatient visit, nonspecified procedures, and prescription drug data were analyzed for a 12-month follow-up period. Because the number of Medicare patients was <50, commercial and Medicare databases were combined into a single cohort. Descriptive statistics were used to summarize the results.

resultsA total of 1505 patients were included in the study; of these, 784 patients had commercial/Medicare insurance and 721 patients had Medicaid. The mean age was 18 years. In all age-groups, the median all-cause healthcare cost per patient was significantly lower in the commercial/Medicare cohort (range, $2222-$2955) than in the Medicaid cohort (range, $4548-$9702). The annual median costs per patient for those who had any medical procedures were $1614 and $3064 for commercial or Medicare and for Medicaid, respectively. The annual median costs per patient for those with at least 1 hospitalization was $7740 in the commercial/Medicare cohort (9.4% of patients) and $4468 in the Medicaid cohort (12.5% of patients).

conclusionThis first descriptive US claims analysis supports the overall results from surveys on the economic burden related to FXS. The cost drivers in this population included medical procedures, hospitalizations in a subset of patients, and medications to a lesser extent. This information may be relevant to payers for benefit design and allocation of resources. A more targeted assessment of resource utilization is needed to estimate the value of interventions that reduce costs and improve the outcomes of patients with FXS.