Karine Chevreul1,2,3, Coralie Gandré4,5,6, Karen Berg Brigham4,7, Julio López-Bastida8,9, Renata Linertová9,10, Juan Oliva-Moreno9,11, Pedro Serrano-Aguilar9,12, Manuel Posada-de-la-Paz13, Domenica Taruscio14, Arrigo Schieppati15, Georgi Iskrov16,17, László Gulácsi18, Johann Matthias Graf von der Schulenburg19, Panos Kanavos20, Ulf Persson21, Giovani Fattore22. 1. URC Eco Ile de France, AP-HP, Paris, France. karine.chevreul@urc-eco.fr. 2. Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France. karine.chevreul@urc-eco.fr. 3. INSERM, ECEVE, U1123, Paris, France. karine.chevreul@urc-eco.fr. 4. URC Eco Ile de France, AP-HP, Paris, France. 5. Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France. 6. INSERM, ECEVE, U1123, Paris, France. 7. Université Paris Est, Créteil, France. 8. University of Castilla-La Mancha, Talavera De La Reina, Toledo, Spain. 9. Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain. 10. Fundación Canaria de Investigación Sanitaria (FUNCANIS), Las Palmas de Gran Canaria, Spain. 11. University of Castilla-La Mancha, Toledo, Spain. 12. Evaluation and Planning Service at Canary Islands Health Service, Santa Cruz de Tenerife, Spain. 13. Institute of Rare Diseases Research, ISCIII, SpainRDR & CIBERER, Madrid, Spain. 14. National Center for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy. 15. Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele Daccò, Istituto di Ricerche Farmacologiche Mario Negri, Ranica (Bergamo), Italy. 16. Institute of Rare Diseases, Plovdiv, Bulgaria. 17. Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria. 18. Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary. 19. Centre for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Germany. 20. Department of Social Policy and LSE Health, London School of Economics and Political Science, London, UK. 21. The Swedish Institute for Health Economics, Lund, Sweden. 22. Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.
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.
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.
Entities:
Keywords:
Cost analysis; Economic burden; Fragile X syndrome; Quality of life
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