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However, the current cost of illness is largely unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed at determining the socioeconomic burden of FSHD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Adult patients with FSHD from the Dutch FSHD registry were invited to complete a questionnaire on medical consumption, work productivity and health-related quality of life (HR-QoL) using the EQ-5D-5L\n                      <jats:italic>.<\/jats:italic>\n                      Associated costs were calculated from a societal perspective. A generalized linear model was fitted to the data to investigate whether level of mobility was related to annual costs of illness.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      172 patients with FSHD completed the questionnaire (response rate 65%)\n                      <jats:italic>.<\/jats:italic>\n                      The per-patient annual direct medical costs of FSHD were estimated at \u20ac12,077, direct non-medical costs at \u20ac9179 and indirect costs at \u20ac5066, adding up to a total cost of illness of \u20ac26,322 per patient per year. The direct costs of illness were \u20ac21,256, approximately five times higher than the mean per-capita health expenditures in the Netherlands. Major cost-driving factors were formal home care and informal care. A decreased level of mobility was associated with higher direct costs of illness. HR-QoL was significantly reduced in patients with FSHD with a median health utility value of 0.63.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We show that FSHD is associated with substantial direct and indirect socioeconomic costs as well as a reduction in HR-QoL. These findings are important for health care decision makers and aids in allocation of research funds and evaluation of the cost-effectiveness of novel therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-021-10591-w","type":"journal-article","created":{"date-parts":[[2021,5,27]],"date-time":"2021-05-27T04:02:43Z","timestamp":1622088163000},"page":"4778-4788","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The socioeconomic burden of facioscapulohumeral muscular dystrophy"],"prefix":"10.1007","volume":"268","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0641-0057","authenticated-orcid":false,"given":"Anna M.","family":"Blokhuis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna C. 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Orphanet J Rare Dis 12(1):141. https:\/\/doi.org\/10.1186\/s13023-017-0695-0","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-021-10591-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-021-10591-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-021-10591-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T13:00:26Z","timestamp":1725109226000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-021-10591-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,27]]},"references-count":47,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10591"],"URL":"https:\/\/doi.org\/10.1007\/s00415-021-10591-w","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,27]]},"assertion":[{"value":"4 January 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 March 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 May 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"AB and JD declare that they have no conflict of interest. NV is member of the scientific board of Dynacure (not related to this study) and received funding for several studies by the Prinses Beatrix Spierfonds and Spieren voor Spieren (not related to this study). BE reports grants from Global FSH, grants from Stichting Spieren voor Spieren, grants from Prinses Beatrix Spierfonds, grants from Dutch FSHD Foundation, personal fees and non-financial support from Fulcrum, personal fees from Facio during the conduct of the study; grants from European Union\u2019s Horizon 2020 research and innovation programme (Murab), grants from Netherlands Organisation for Scientific Research (NWO), grants from The Netherlands Organisation for Health Research and Development (ZonMw), grants from Association Francaise contre les Myopathies, outside the submitted work; In addition, BE has a patent EP20120740236 with royalties paid to Euroimmun. JG reports grants from Prinses Beatrix Spierfonds and Fulcrum Therapeutics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Study ethical approval was granted by the Medical Ethical Committee of the Radboud university medical center (2018\u20134055). The study was performed in line with the principles of the 1964 Helsinki Declaration.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The questionnaires were incorporated in the Dutch FSHD registry after approval of the registry steering board, therefore, the informed consent for participation in the registry sufficed.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}]}}