{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T17:38:59Z","timestamp":1770226739320,"version":"3.49.0"},"reference-count":60,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T00:00:00Z","timestamp":1726272000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Telethon GUP","award":["19002"],"award-info":[{"award-number":["19002"]}]},{"name":"Italian Ministry of Health to grant Ricerca Corrente, Linea 1, 2023","award":["19002"],"award-info":[{"award-number":["19002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. Methods: This was an observational multicenter study. Reported sleep quality was assessed using the Pediatric Daytime Sleepiness Scale (PDSS) and Pediatric Sleep Questionnaire (PSQ). Sleep quality was correlated to motor function (6 min walk test, 6MWT and grip strength; pulmonary function (predicted Forced Vital Capacity%, FVC% pred.); executive function assessed by BRIEF-2; autism traits assessed by Autism Spectrum Screening Questionnaire (ASSQ) and Repetitive Behavior Scale-revised (RBS-R); Quality of life (PedsQL) and disease burden (Congenital Childhood Myotonic Dystrophy Health Index, CCMDHI). Results: Forty-six patients were included, 33 CDM and 13 ChDM, at a median age of 10.4 and 15.1 years. Daytime sleepiness and disrupted sleep were reported by 30% children, in both subgroups of CDM and ChDM. Daytime sleepiness correlated with autism traits in CDM (p &lt; 0.05). Disrupted sleep correlated with poorer executive function (p = 0.04) and higher disease burden (p = 0.03). Conclusions: Sleep issues are a feature of both CDM and ChDM. They correlate with behavioral issues and impact on disease burden.<\/jats:p>","DOI":"10.3390\/jcm13185459","type":"journal-article","created":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T11:36:37Z","timestamp":1726486597000},"page":"5459","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1\u2014Results from a Retrospective Analysis in Italy"],"prefix":"10.3390","volume":"13","author":[{"given":"Federica","family":"Trucco","sequence":"first","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"},{"name":"Department of Neurorehabilitation, University of Milan, 20122 Milan, Italy"},{"name":"Paediatric Neurology and Muscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16132 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Lizio","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Roma","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"di Bari","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Salmin","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Albamonte","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacopo","family":"Casiraghi","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna","family":"Pozzi","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Becchiati","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Antonaci","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario Agostino Gemelli, IRCCS Universit\u00e0 Cattolica del Sacro Cuore, 00136 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2704-0577","authenticated-orcid":false,"given":"Anna","family":"Salvalaggio","sequence":"additional","affiliation":[{"name":"Department of Sciences of Public Health and Pediatrics, University of Turin, 10124 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0785-5004","authenticated-orcid":false,"given":"Michela","family":"Catteruccia","sequence":"additional","affiliation":[{"name":"UOS Malattie Muscolari e Neurodegenerative\u2014Ospedale Pediatrico Bambino Ges\u00f9, 00165 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Tosi","sequence":"additional","affiliation":[{"name":"UOS Malattie Muscolari e Neurodegenerative\u2014Ospedale Pediatrico Bambino Ges\u00f9, 00165 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gemma","family":"Marinella","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Calambrone Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3732-4549","authenticated-orcid":false,"given":"Federica R.","family":"Danti","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Bruschi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4293-0260","authenticated-orcid":false,"given":"Marco","family":"Veneruso","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini and DINOGMI, University of Genova, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1509-345X","authenticated-orcid":false,"given":"Stefano","family":"Parravicini","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuromuscular Disorders Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini and DINOGMI, University of Genova, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4645-8055","authenticated-orcid":false,"given":"Angela","family":"Berardinelli","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuromuscular Disorders Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Pini","sequence":"additional","affiliation":[{"name":"Pediatric Neuromuscular Unit, UOC Neuropsichiatria dell\u2019et\u00e0 Pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8588-0323","authenticated-orcid":false,"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Calambrone Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Calambrone Pisa, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2438-2624","authenticated-orcid":false,"given":"Adele","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"UOS Malattie Muscolari e Neurodegenerative\u2014Ospedale Pediatrico Bambino Ges\u00f9, 00165 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2019-612X","authenticated-orcid":false,"given":"Federica","family":"Ricci","sequence":"additional","affiliation":[{"name":"Department of Sciences of Public Health and Pediatrics, University of Turin, 10124 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario Agostino Gemelli, IRCCS Universit\u00e0 Cattolica del Sacro Cuore, 00136 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenio M.","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario Agostino Gemelli, IRCCS Universit\u00e0 Cattolica del Sacro Cuore, 00136 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3917-4257","authenticated-orcid":false,"given":"Nicholas E.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology, Virginia Commonwealth University, Richmond, VA 23298, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, 20162 Milan, Italy"},{"name":"Department of Neurorehabilitation, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/355545a0","article-title":"Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy","volume":"355","author":"Harley","year":"1992","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/S0960-8966(02)00020-2","article-title":"99th ENMC international workshop: Myotonic 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