{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:21:44Z","timestamp":1788423704989,"version":"build-2803163510"},"reference-count":38,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Pfizer Italia Srl"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and caregivers, treatment adherence, and economic impact of DMD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Systematic searches were conducted in PubMed, Embase and Web of Science up to January 2023. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol was registered in PROSPERO (CRD42021245196).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Thirteen studies were included. The prevalence of DMD in the general population is 1.7\u20133.4 cases per 100,000, while the birth prevalence is 21.7\u201328.2 per 100,000 live male births. The QoL of DMD patients and caregivers is lower than that of healthy subjects, and the burden for caregivers of DMD children is higher than that of caregivers of children with other neuromuscular disorders. The compliance of real-world DMD care to clinical guidelines recommendations in Italy is lower than in other European countries. The annual cost of illness for DMD in Italy is \u20ac 35,000\u201346,000 per capita while, adding intangible costs, the total cost amounts to \u20ac 70,000.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec004\">\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Although it is a rare disease, DMD represents a significant burden in terms of quality of life of patients and their caregivers, and economic impact.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1371\/journal.pone.0287774","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T13:29:09Z","timestamp":1687872549000},"page":"e0287774","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":21,"title":["Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact"],"prefix":"10.1371","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0200-1202","authenticated-orcid":true,"given":"Massimiliano","family":"Orso","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Migliore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Polistena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Gatto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Monterubbianesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"d\u2019Angela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Spandonaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"issue":"3","key":"pone.0287774.ref001","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.","volume":"17","author":"DJ Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"issue":"1\u20132","key":"pone.0287774.ref002","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.jns.2013.09.036","article-title":"Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization.","volume":"336","author":"F Giliberto","year":"2014","journal-title":"J Neurol Sci"},{"issue":"1","key":"pone.0287774.ref003","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01430-8","article-title":"Global epidemiology of Duchenne muscular dystrophy: An updated systematic review and meta-analysis.","volume":"15","author":"S Crisafulli","year":"2020","journal-title":"Orphanet journal of rare diseases"},{"issue":"1","key":"pone.0287774.ref004","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.","volume":"9","author":"K Bushby","year":"2010","journal-title":"Lancet Neurol"},{"issue":"5","key":"pone.0287774.ref005","first-page":"447","article-title":"Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements. 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