TY - JOUR

T1 - Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe

AU - BURQOL-RD Research Network

AU - Chevreul, Karine

AU - Gandré, Coralie

AU - Brigham, Karen Berg

AU - López-Bastida, Julio

AU - Linertová, Renata

AU - Oliva-Moreno, Juan

AU - Serrano-Aguilar, Pedro

AU - Posada-de-la-Paz, Manuel

AU - Taruscio, Domenica

AU - Schieppati, Arrigo

AU - Iskrov, Georgi

AU - Gulácsi, László

AU - von der Schulenburg, Johann Matthias Graf

AU - Kanavos, Panos

AU - Persson, Ulf

AU - Fattore, Giovani

N1 - Funding Information: 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.

PY - 2016/4

Y1 - 2016/4

N2 - 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.

AB - 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.

KW - Cost analysis

KW - Economic burden

KW - Fragile X syndrome

KW - Quality of life

UR - http://www.scopus.com/inward/record.url?scp=84963641694&partnerID=8YFLogxK

U2 - 10.1007/s10198-016-0784-3

DO - 10.1007/s10198-016-0784-3

M3 - Article

C2 - 27072054

AN - SCOPUS:84963641694

VL - 17

SP - 43

EP - 52

JO - European Journal of Health Economics

JF - European Journal of Health Economics

SN - 1618-7598

ER -