{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T18:30:19Z","timestamp":1783103419516,"version":"3.54.6"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T00:00:00Z","timestamp":1725408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GUP19002"],"award-info":[{"award-number":["GUP19002"]}],"id":[{"id":"10.13039\/501100002426","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":[[2025,3]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood\u2010onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 139 children followed by 12 highly specialized tertiary care neuromuscular centres in Italy and one tertiary neuromuscular centre in the USA were included: 105 children with CDM and 34 children with ChDM (mean age 8\u2009years 8\u2009months and 12\u2009years 2\u2009months respectively; 49 males and 17 males respectively). Seventy (50%) parents were diagnosed with adult\u2010onset DM1 after the affected child was diagnosed. Only 12 (17%) of the 69 parents known to be affected had prenatal testing.<\/jats:p><jats:p>Of the 105 children with CDM, 98% had maternally inherited CDM, 36% were born preterm, 83% required a stay in the neonatal intensive care unit for more than 48\u2009hours, 84% and 79% had ambulation and speech delay, and 84% had an IQ lower than 70. Of the 34 children with ChDM, 59% had paternally inherited ChDM, 91% were born at term, and 36% had an IQ lower than 70.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Delay in diagnosing DM1 affects family planning. The prenatal and perinatal outcomes of the affected offspring emphasize the need for proactive counselling as parents may be reluctant to conduct prenatal testing.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.16079","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T14:43:56Z","timestamp":1725461036000},"page":"365-373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Parental diagnostic delay and developmental outcomes in congenital and childhood\u2010onset myotonic dystrophy type 1"],"prefix":"10.1111","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1147-0126","authenticated-orcid":false,"given":"Federica","family":"Trucco","sequence":"first","affiliation":[{"name":"NeMO Clinical Center, Fondazione Serena  Milan Italy"},{"name":"Department of Neurorehabilitation University of Milan  Milan Italy"},{"name":"Paediatric Neurology and Muscular Diseases Unit, Istituto 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Public Health and Pediatrics University of Turin  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'amico","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children's Hospital Istituto di Ricovero e Cura a Carattere Scientifico  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience Istituto di Ricovero e Cura a Carattere Scientifico Fondazione Stella Maris  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosciences Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Pini","sequence":"additional","affiliation":[{"name":"Pediatric Neuromuscular Unit, UOC Neuropsichiatria Dell'Et\u00e0 Pediatrica Istituto di Ricovero e Cura a Carattere Scientifico Istituto delle Scienze Neurologiche di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini and DINOGMI, University of Genova  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Berardinelli","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuromuscular Disorder Unit Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas E.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University  Richmond VA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"NeMO Clinical Center, Fondazione Serena  Milan Italy"},{"name":"Department of Neurorehabilitation University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The DM1 Paediatric Working 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