title: Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.
abstract: OBJECTIVE
  The aim of this study was to determine the economic burden from a societal perspective and health-related quality of life (HRQOL) of patients with Prader-Willi syndrome (PWS) in Europe.
  
  
  METHODS
  We conducted a cross-sectional study of patients with PWS from Spain, Bulgaria, Hungary, Germany, Italy, the UK, Sweden and France. Data on demographic characteristics, healthcare resource utilisation, informal care, labour productivity losses and HRQOL were collected from questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D) questionnaire.
  
  
  RESULTS
  A total of 261 patients completed the questionnaire. The average annual costs ranged from € 3937 to € 67,484 between countries; the reference year for unit prices was 2012. Direct healthcare costs ranged from € 311 to € 18,760, direct non-healthcare costs ranged from € 1269 to € 44,035, and loss of labour productivity ranged from € 0 to € 2255. Costs were also shown to differ between children and adults. The mean EQ-5D index score for adult PWS patients ranged between 0.40 and 0.81 and the mean EQ-5D visual analogue scale score ranged between 51.25 and 90.00.
  
  
  CONCLUSIONS
  The main strengths of this study lie in our bottom-up approach to costing and in the evaluation of PWS patients from a broad societal perspective. This type of analysis is very scarce in the international literature on rare diseases in comparison with other illnesses. We conclude that PWS patients incur considerable societal costs and experience substantial deterioration in HRQOL.
authors.affiliation: University of Castilla-La Mancha, Talavera de la Reina, Toledo, Spain. julio.lopezbastida@uclm.es.|Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain. julio.lopezbastida@uclm.es.
authors.forename: Julio
authors.initials: J
authors.lastname: López-Bastida
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Canary Islands Foundation for Health Research (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: Institute of Rare Diseases Research (IIER), Spain RDR and CIBERER, Madrid, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada-de-la-Paz
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: London School of Economics and Political Science-Health Research Centre, London, UK.
authors.forename: Panos
authors.initials: P
authors.lastname: Kanavos
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: Petra
authors.initials: P
authors.lastname: Baji
authors.affiliation: Federación Española de Enfermedades Raras (FEDER), Madrid, Spain.
authors.forename: Claudia
authors.initials: C
authors.lastname: Delgado
authors.affiliation: Centre for Health Economics/Institute for Risk and Insurance, Leibniz University, Hannover, Germany.
authors.forename: Johann Matthias Graf
authors.initials: JM
authors.lastname: von der Schulenburg
authors.affiliation: The Swedish Institute for Health Economics, Lund, Sweden.
authors.forename: Ulf
authors.initials: U
authors.lastname: Persson
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: Karine
authors.initials: K
authors.lastname: Chevreul
authors.affiliation: Centre for Research on Health and Social Care (CERGAS), Bocconi University, Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fattore
mesh_terms: D000293:Adolescent; D000328:Adult; D017028:Caregivers; D002648:Child; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005060:Europe; D005260:Female; D017048:Health Care Costs / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D008875:Middle Aged; D005791:Patient Care / Q000191:economics; D011218:Prader-Willi Syndrome / Q000191:economics* / Q000523:psychology; D011788:Quality of Life; D018582:Sick Leave / Q000191:economics; D018434:Sickness Impact Profile; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires; D006113:United Kingdom; D064232:Visual Analog Scale; D055815:Young Adult
keywords: Cost of illness; Economic burden; Health-related quality of life; Prader-Willi syndrome