{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T04:35:51Z","timestamp":1768797351246,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,10,28]],"date-time":"2015-10-28T00:00:00Z","timestamp":1445990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003975","name":"Myotonic Dystrophy Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003975","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile\u2010onset myotonic dystrophy (<jats:styled-content style=\"fixed-case\">CDM<\/jats:styled-content>\/Ch<jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">JDM<\/jats:styled-content>) is not documented. This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early\u2010onset myotonic dystrophy type\u20101 (<jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We distributed surveys to parents of patients with CDM\/ChDM\/JDM. Patients with CDM\/ChDM\/JDM were members of the <jats:styled-content style=\"fixed-case\">US<\/jats:styled-content> National Registry of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>1 Patients and Family Members, the Canadian Neuromuscular Disease Registry, or the Swedish Health System. Surveys inquired about 325 symptoms and 20 themes associated with <jats:styled-content style=\"fixed-case\">CDM<\/jats:styled-content>\/Ch<jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">JDM<\/jats:styled-content>. Parents identified the importance of each symptom and theme to their affected child. The prevalence of each symptom and theme were compared across subgroups of patients. The statistical analysis was performed using Fisher's exact and Kruskal\u2013Wallis tests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred and fifty parents returned surveys. The most frequently reported symptomatic themes in children were issues involving communication (81.7%) and problems with hands or fingers (79.6%). Problems with communication and fatigue were the issues that were reported to have the greatest impact on childrens\u2019 lives, while 24.1% of children reported cardiac disorders and 15.8% had problems with anesthesia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>A range of symptoms contribute to the burden of disease faced by children with <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>1. Many of these symptoms are under\u2010recognized.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12948","type":"journal-article","created":{"date-parts":[[2015,10,29]],"date-time":"2015-10-29T04:22:54Z","timestamp":1446092574000},"page":"698-705","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Parent\u2010reported multi\u2010national study of the impact of congenital and childhood onset myotonic dystrophy"],"prefix":"10.1111","volume":"58","author":[{"given":"Nicholas E","family":"Johnson","sequence":"first","affiliation":[{"name":"Department of Neurology The University of Utah Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Berit","family":"Ekstrom","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Queen Silvia Children's Hospital Sahlgrenska Academy at the University of Gothenburg Gothenburg 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