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

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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.

Author information

Authors and Affiliations

  1. URC Eco Ile de France, AP-HP, Paris, France

    Karine Chevreul, Coralie Gandré & Karen Berg Brigham

  2. Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France

    Karine Chevreul & Coralie Gandré

  3. INSERM, ECEVE, U1123, Paris, France

    Karine Chevreul & Coralie Gandré

  4. Université Paris Est, Créteil, France

    Karen Berg Brigham

  5. University of Castilla-La Mancha, Talavera De La Reina, Toledo, Spain

    Julio López-Bastida

  6. Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain

    Julio López-Bastida, Renata Linertová, Juan Oliva-Moreno & Pedro Serrano-Aguilar

  7. Fundación Canaria de Investigación Sanitaria (FUNCANIS), Las Palmas de Gran Canaria, Spain

    Renata Linertová

  8. University of Castilla-La Mancha, Toledo, Spain

    Juan Oliva-Moreno

  9. Evaluation and Planning Service at Canary Islands Health Service, Santa Cruz de Tenerife, Spain

    Pedro Serrano-Aguilar

  10. Institute of Rare Diseases Research, ISCIII, SpainRDR & CIBERER, Madrid, Spain

    Manuel Posada-de-la-Paz

  11. National Center for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy

    Domenica Taruscio

  12. Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele Daccò, Istituto di Ricerche Farmacologiche Mario Negri, Ranica (Bergamo), Italy

    Arrigo Schieppati

  13. Institute of Rare Diseases, Plovdiv, Bulgaria

    Georgi Iskrov

  14. Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria

    Georgi Iskrov

  15. Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary

    László Gulácsi

  16. Centre for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Germany

    Johann Matthias Graf von der Schulenburg

  17. Department of Social Policy and LSE Health, London School of Economics and Political Science, London, UK

    Panos Kanavos

  18. The Swedish Institute for Health Economics, Lund, Sweden

    Ulf Persson

  19. Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy

    Giovani Fattore

Authors
  1. Karine Chevreul
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  2. Coralie Gandré
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  3. Karen Berg Brigham
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  4. Julio López-Bastida
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BURQOL-RD Research Network

Corresponding author

Correspondence to Karine Chevreul.

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Funding

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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The authors declare that they have no conflicts of interest.

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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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