Presentation (CTI)

OBJECTIVES: To conduct a systematic literature review analyzing the direct costs, indirect costs, and resource utilization associated with patients diagnosed with Fragile X Syndrome (FXS).
METHODS: A literature search was conducted in EMBASE, MEDLINE, and EconLit (January 2014-December 2024). Observational studies, post-hoc analyses of randomized controlled trials (RCTs), and economic evaluations reporting costs, resource utilization, or economic burden in patients with FXS were included.
RESULTS: Out of 639 abstracts screened, 31 underwent full-text review, and 7 studies were included. Conducted in the USA, Europe, and Australia, these studies focused on patients with FXS and their caregivers. Sample sizes ranged from 35 to 784 participants, with ages from 9.24 to 25.7 years. Six studies reported direct or indirect costs, while one focused solely on resource utilization. All studies highlighted significant resource needs for FXS management. One study reported higher annual direct costs for children (€30,873, SD 31,628) compared to adults (€19,362, SD 19,821). Total direct costs ranged from €25,784 (SD 27,528) in France to €58,862 (SD 61,357) in Sweden, with non-healthcare costs—such as informal care (€10,500) and social services (€8,400)—outweighing healthcare costs (€2,700). Medication costs varied from €4 (SD 14) in Hungary to €307 (SD 459) in Spain, while U.S. pharmacy costs ranged from $1,069 (SD 2,984) to $2,358 (SD 5,155). Three studies reported productivity losses, with one U.S. study estimating annualized absenteeism costs at $4,477 (SD 5,161) for caregivers and working individuals with FXS.
CONCLUSIONS: This review highlights the substantial economic burden of FXS, with significant variation in costs across patient demographics and regions, underscoring the need for tailored healthcare and support strategies.