Abstract
Objective
To estimate the social/economic costs of fragile X syndrome (FXS) in Europe and to assess the health-related quality of life (HRQOL) of patients and caregivers.
Methods
A cross-sectional study was conducted in a sample of European countries. Patients were recruited through patients’ associations. Data on their resource use and absence from the labour market were retrospectively obtained from an online questionnaire. Costs were estimated by a bottom-up approach and the EuroQol-5 Domain (EQ-5D) questionnaire was used to measure patients’ and caregivers’ HRQOL.
Results
Five countries were included in the analysis. The mean annual cost of FXS per patient varied from €4951 in Hungary to €58,862 in Sweden. Direct non-healthcare costs represented the majority of costs in all countries but there were differences in the share incurred by formal and informal care among those costs. Costs were also shown to differ between children and adults. Mean EQ-5D utility score for adult patients varied from 0.52 in France (n = 42) to 0.73 in Hungary (n = 2), while for caregivers this score was consistently inferior to 0.87.
Conclusion
Our findings underline that, although its prevalence is low, FXS is costly from a societal perspective. They support the development of tailored policies to reduce the consequences of FXS on both patients and their relatives.
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Acknowledgments
The authors wish to thank the National Alliance of People with Rare Diseases (NAPRD), Bulgaria; Alliance Maladies Rares, France; ACHSE, Germany; Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ), Hungary; Federazione Italiana Malattie Rare (UNIAMO), Italy; Associazione Italiana Sindrome X Fragile, Italy; the Consulta Nazionale delle Malattie Rare, Italy; Rare Diseases Sweden; Federación Española de Efermedades Raras (FEDER), Spain; Rare Disease UK; and Rare Diseases Europe (EURORDIS); Mosaiques, Association Le Goeland X-Fragile, France; Martin-Bell Baráti Közösség, Hungary; Associazione Italiana Sindrome X Fragile, Italy; Federación Española del Síndrome de X Frágil, Asociación para la integración de personas afectadas por X-Frágil u otro TGD en Andalucía, Asociación del Síndrome X-Frágil de Madrid, Extremadura y Cataluña, Spain.
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Supported by the Social/Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe Project, which has received funding from the European Union within the framework of the Health Programme (Grant A101205). The Executive Agency of the European Union is not responsible for any use that may be made of the information contained herein.
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Chevreul, K., Gandré, C., Brigham, K.B. et al. Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe. Eur J Health Econ 17 (Suppl 1), 43–52 (2016). https://doi.org/10.1007/s10198-016-0784-3
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DOI: https://doi.org/10.1007/s10198-016-0784-3