{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T01:29:08Z","timestamp":1794360548037,"version":"4.9.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T00:00:00Z","timestamp":1715299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T00:00:00Z","timestamp":1715299200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007423","name":"Duchenne Parent Project","doi-asserted-by":"publisher","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/501100007423","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4\u20135 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timely access to treatment, opportunities for reproductive options, prevention of potential fatal reactions to inhaled anesthetics, awareness of a child\u2019s abilities needed for good parenting, and opportunities for enrolment in clinical trials.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Method<\/jats:title>\n                <jats:p>We aimed to develop a short risk assessment tool based on developmental milestones that may contribute to the early detection of boys with DMD in primary care. As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with DMD), data on developmental milestones, symptoms and therapies for 76 boys with DMD and 12,414 boys from a control group were extracted from the health records of youth health care services and questionnaires. Multiple imputation, diagnostic validity and pooled backward logistic regression analyses with DMD (yes\/no) as the dependent variable and attainment of 26 milestones until 36 months of age (yes\/no) as the independent variable were performed. Descriptive statistics on symptoms and therapies were provided.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A tool with seven milestones assessed at specific ages between 12 and 36 months resulted in a sensitivity of 79% (95CI:67\u201388%), a specificity of 95.8% (95%CI:95.3\u201396.2), and a positive predictive value of 1:268 boys. Boys with DMD often had symptoms (e.g. 43% had calf muscle pseudohypertrophy) and were referred to therapy (e.g. 59% for physical therapy) before diagnosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Discussion<\/jats:title>\n                <jats:p>This tool followed by the examination of other DMD-related symptoms could be used by youth health care professionals during day-to-day health assessments in the general population to flag children who require further action.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The majority of boys (79%) with DMD can be identified between 12 and 36 months of age with this tool. It increases the initial a priori risk of DMD from 1 in 5,000 to approximately 1 in 268 boys. We expect that other neuromuscular disorders and disabilities can also be found with this tool.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03208-8","type":"journal-article","created":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T17:02:05Z","timestamp":1715360525000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5546-6244","authenticated-orcid":false,"given":"Paula","family":"van Dommelen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ois\u00edn","family":"van Dijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen A.","family":"de Wilde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul H.","family":"Verkerk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,10]]},"reference":[{"key":"3208_CR1","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1097\/00004703-200312000-00002","volume":"24","author":"L Sices","year":"2003","unstructured":"Sices L, Feudtner C, McLaughlin J, Drotar D, Williams M. How do primary care physicians identify young children with developmental delays? A national survey. J Dev Behav Pediatr. 2003;24:409\u201317.","journal-title":"J Dev Behav Pediatr"},{"key":"3208_CR2","doi-asserted-by":"publisher","DOI":"10.1596\/29000","volume-title":"A Toolkit for Measuring Early Childhood Development in Low and Middle-Income Countries","author":"LCH Fernald","year":"2017","unstructured":"Fernald LCH, Prado E, Kariger P, Raikes A. A Toolkit for Measuring Early Childhood Development in Low and Middle-Income Countries. Washington, DC: World Bank; 2017. https:\/\/openknowledge.worldbank.org\/handle\/10986\/29000. License: CC BY 3.0 IGO. \u00a9 World Bank."},{"key":"3208_CR3","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","volume":"12","author":"S Ryder","year":"2017","unstructured":"Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12:79.","journal-title":"Orphanet J Rare Dis"},{"key":"3208_CR4","doi-asserted-by":"crossref","unstructured":"Ellis JA, Vroom E, Muntoni F. 195th ENMC International Workshop: newborn screening for Duchenne muscular dystrophy 14\u201316th December, 2012, Naarden, The Netherlands. Neuromuscul Disord 2013;23:682\u20139.","DOI":"10.1016\/j.nmd.2013.05.008"},{"key":"3208_CR5","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1016\/j.jpeds.2009.02.007","volume":"155","author":"E Ciafaloni","year":"2009","unstructured":"Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the muscular dystrophy surveillance, Tracking, and Research Network (MD STARnet). 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The IRB approved this non-interventional research proposal. In its deliberations, the IRB considered the research design and privacy aspects, in addition to the ethical aspects and the burden and the risks to the research participants. If parents and\/or children (depending on the age of the child) agreed to participate, they were asked to provide written consent for collection of their health records, their date of diagnosis, and for publication of the results. We obtained permission from the Youth Health Care of The Hague to extract anonymous data from the electronic health records of all children born between 2011 and 2013 (control group).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"192"}}