{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:24:43Z","timestamp":1793111083313,"version":"4.5.0"},"reference-count":41,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To study long\u2010term disease course for females with early\u2010onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>Twelve females with early\u2010onset dystrophinopathy were followed for a median period of more than 17\u2009years (range 1\u201336).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      One patient died owing to end\u2010stage cardiac failure. Cardiac abnormalities were observed in three of the remaining 11 participants. Respiratory function was reduced in seven of 10 participants. Fatigue, myalgia, lower back pain, and arthralgia were reported in more than six of the participants. Functional status varied from exercise intolerance to wheelchair dependency. Most or all of the 10 participants reported restrictions in participation in work (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a010), household duties (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a010), sports (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a09), and education (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a08). Only a few participants received followed\u2010up pulmonary (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a02) or rehabilitation (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a03) care.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Females with early\u2010onset dystrophinopathy experience a wide range of impairments, comorbidities, limitations in activities, and restrictions in social participation. The whole spectrum should be acknowledged in the healthcare setting. Neuromuscular and cardiac follow\u2010up are indispensable. Additional respiratory assessment and rehabilitation care are expected to improve health status and support daily activities and participation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>What this paper adds<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>No standard diagnostic procedures seem to exist for female patients suspected for dystrophinopathy.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Female participants with early\u2010onset dystrophinopathy experienced a broad scope of burdening symptoms, such as fatigue, myalgia, lower back pain, and arthralgia.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>None of participants worked full time, all felt restricted in paid work, and most felt restricted in education.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Most participants showed decreased lung function, while only one was symptomatic.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Availability of rehabilitation care may improve support for daily activities and participation for females with early\u2010onset dystrophinopathy.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.15496","type":"journal-article","created":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T06:04:37Z","timestamp":1671775477000},"page":"1093-1104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Long\u2010term outcomes for females with early\u2010onset dystrophinopathy"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9221-5679","authenticated-orcid":false,"given":"Saskia L. S.","family":"Houwen\u2010van Opstal","sequence":"first","affiliation":[{"name":"Department of Rehabilitation, Amalia Children's Hospital Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon O.","family":"Tak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Sint Antonius Hospital  Nieuwegein the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6654-6730","authenticated-orcid":false,"given":"Maaike","family":"Pelsma","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Amalia Children's Hospital Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9255-418X","authenticated-orcid":false,"given":"Frederik M. A.","family":"van den Heuvel","sequence":"additional","affiliation":[{"name":"Department of Cardiology Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0451-2065","authenticated-orcid":false,"given":"Hermine A.","family":"van Duyvenvoorde","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3452-9650","authenticated-orcid":false,"given":"Edith H. C.","family":"Cup","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Amalia Children's Hospital Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4966-6749","authenticated-orcid":false,"given":"Lilian T. L.","family":"Sie","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Juliana Children's Hospital\/Haga Teaching Hospital  The Hague the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan S. H.","family":"Vles","sequence":"additional","affiliation":[{"name":"Department of Neurology Maastricht University Medical Center  Maastricht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1634-1427","authenticated-orcid":false,"given":"Imelda J. 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