title: Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: URC Eco Ile de France, AP-HP, Paris, France. karine.chevreul@urc-eco.fr.|Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France. karine.chevreul@urc-eco.fr.|INSERM, ECEVE, U1123, Paris, France. karine.chevreul@urc-eco.fr.
authors.forename: Karine
authors.initials: K
authors.lastname: Chevreul
authors.affiliation: URC Eco Ile de France, AP-HP, Paris, France.|Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France.|INSERM, ECEVE, U1123, Paris, France.
authors.forename: Coralie
authors.initials: C
authors.lastname: Gandré
authors.affiliation: URC Eco Ile de France, AP-HP, Paris, France.|Université Paris Est, Créteil, France.
authors.forename: Karen Berg
authors.initials: KB
authors.lastname: Brigham
authors.affiliation: University of Castilla-La Mancha, Talavera De La Reina, Toledo, Spain.|Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: López-Bastida
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Fundación Canaria de Investigación Sanitaria (FUNCANIS), Las Palmas de Gran Canaria, Spain.
authors.forename: Renata
authors.initials: R
authors.lastname: Linertová
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|University of Castilla-La Mancha, Toledo, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Oliva-Moreno
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Evaluation and Planning Service at Canary Islands Health Service, Santa Cruz de Tenerife, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Serrano-Aguilar
authors.affiliation: Institute of Rare Diseases Research, ISCIII, SpainRDR & CIBERER, Madrid, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada-de-la-Paz
authors.affiliation: National Center for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.affiliation: Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele Daccò, Istituto di Ricerche Farmacologiche Mario Negri, Ranica (Bergamo), Italy.
authors.forename: Arrigo
authors.initials: A
authors.lastname: Schieppati
authors.affiliation: Institute of Rare Diseases, Plovdiv, Bulgaria.|Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.
authors.forename: Georgi
authors.initials: G
authors.lastname: Iskrov
authors.affiliation: Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Gulácsi
authors.affiliation: Centre for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Germany.
authors.forename: Johann Matthias Graf
authors.initials: JM
authors.lastname: von der Schulenburg
authors.affiliation: Department of Social Policy and LSE Health, London School of Economics and Political Science, London, UK.
authors.forename: Panos
authors.initials: P
authors.lastname: Kanavos
authors.affiliation: The Swedish Institute for Health Economics, Lund, Sweden.
authors.forename: Ulf
authors.initials: U
authors.lastname: Persson
authors.affiliation: Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Milan, Italy.
authors.forename: Giovani
authors.initials: G
authors.lastname: Fattore
mesh_terms: D000293:Adolescent; D000328:Adult; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005060:Europe; D005260:Female; D005600:Fragile X Syndrome / Q000191:economics* / Q000523:psychology; D017048:Health Care Costs / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D008875:Middle Aged; D005791:Patient Care / Q000191:economics; D011788:Quality of Life; D012042:Registries; D018582:Sick Leave / Q000191:economics / Q000706:statistics & numerical data; D018434:Sickness Impact Profile; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires; D006113:United Kingdom; D055815:Young Adult
keywords: Cost analysis; Economic burden; Fragile X syndrome; Quality of life