{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T23:35:57Z","timestamp":1782862557169,"version":"3.54.5"},"reference-count":37,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T00:00:00Z","timestamp":1704326400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,3,5]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>This report summarizes the key discussions from the \u201cEarly Care (0\u20133 years) in Duchenne Muscular Dystrophy\u201d meeting, which aimed to address the challenges and opportunities in the diagnosis and care of Duchenne muscular dystrophy (DMD) and female carriers within the 0\u20133-year age group.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The meeting brought together experts and healthcare providers who shared insights, discussed advancements in DMD care, and identified research needs. Presentations covered diagnostic challenges, approved therapies, clinical trials, identification of young female carriers, and the importance of clinical care and support for families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The meeting highlighted the importance of timely diagnosis and the lack of evidence-based guidelines for the care of children with DMD aged 0\u20133 years. Diagnostic challenges were discussed, including delays in receiving a DMD diagnosis and disparities based on ethnicity. The potential benefits and process of newborn screening were addressed. Approved therapeutic interventions, such as corticosteroids and exon-skipping drugs, were explored, with studies indicating the potential benefits of early initiation of corticosteroid therapy and the safety of exon-skipping drugs in DMD. Clinical trials involving infants and young boys were discussed, focusing on drugs like ataluren, vamorolone, and gene therapies. The meeting emphasized the importance of clinical care and support for families, including comprehensive information provision, early intervention services, and individualized support. The identification and care of young female carriers were also addressed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The meeting provided a platform for experts and healthcare providers to discuss and identify key aspects of early care for children with DMD aged 0\u20133 years. The meeting emphasized the need for early diagnosis, evidence-based guidelines, and comprehensive care and support for affected children and their families. Further research, collaboration, and the development of consensus guidelines are needed to improve early diagnosis, treatment, and outcomes in this population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230180","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T10:46:56Z","timestamp":1704451616000},"page":"525-533","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["The Early Care (0\u20133 Years) In Duchenne Muscular Dystrophy Meeting Report"],"prefix":"10.1177","volume":"11","author":[{"given":"Niki","family":"Armstrong","sequence":"first","affiliation":[{"name":"Parent Project Muscular Dystrophy, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Apkon","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Colorado\/University of Colorado, Aurora, CO, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiera N.","family":"Berggren","sequence":"additional","affiliation":[{"name":"Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Braun","sequence":"additional","affiliation":[{"name":"University of Virginia Children\u2019s Hospital,  Charlottesville, VA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ciafaloni","sequence":"additional","affiliation":[{"name":"University of Rochester, , Rochester, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Connolly","sequence":"additional","affiliation":[{"name":"Nationwide Children\u2019s Hospital, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Kennedy","sequence":"additional","affiliation":[{"name":"EveryLife Foundation for Rare Diseases, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Kuntz","sequence":"additional","affiliation":[{"name":"Ann & Robert H Lurie Children\u2019s Hospital of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Mathews","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa, , Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"McGuire","sequence":"additional","affiliation":[{"name":"Cincinnati Children\u2019s Hospital, Cincinnati, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Parad","sequence":"additional","affiliation":[{"name":"Harvard Medical School and Brigham and Women\u2019s Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mena","family":"Scavina","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Hospital-Delaware, Wilmington, DE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J.","family":"Scharf","sequence":"additional","affiliation":[{"name":"University of Virginia Children\u2019s Hospital,  Charlottesville, VA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Waldrop","sequence":"additional","affiliation":[{"name":"Nationwide Children\u2019s Hospital, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,1,4]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7040077"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25185"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31993"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32000"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.04.005"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.02.006"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.02.012"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.02.007"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27532"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306366"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822623f1"},{"key":"ref012","doi-asserted-by":"crossref","unstructured":"MannJR, ZhangY, McDermottS, WangY, CaiB, ConwayKM, et al. Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy. Neuroepidemiology. 2023.","DOI":"10.1159\/000528962"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0000000000001105"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.02.006"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.3390\/ijns8040050"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27533"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.3390\/ijns8010012"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26441"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1172\/JCI91445"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210665"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005680"},{"key":"ref022","unstructured":"MercuriE, SeferianAM, ServaisL, DeconinckN, StevensonH, NiX, et al. 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