{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:05:49Z","timestamp":1792083949934,"version":"4.4.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,5]],"date-time":"2021-01-05T00:00:00Z","timestamp":1609804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Smith\u2010Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the\n                    <jats:italic>RAI1<\/jats:italic>\n                    gene. In this retrospective cohort, we studied the clinical, cognitive, and behavioral profile of 47 European patients with SMS caused by a 17p11.2 deletion. We update the clinical and neurobehavioral profile of SMS. Intrauterine growth was normal in most patients. Prenatal anomalies were reported in 15%. 60% of our patients older than 10\u2009years were overweight. Prevalence of heart defects (6.5% tetralogy of Fallot, 6.5% pulmonary stenosis), ophthalmological problems (89%), scoliosis (43%), or deafness (32%) were consistent with previous reports. Epilepsy was uncommon (2%). We identified a high prevalence of obstipation (45%). All patients had learning difficulties and developmental delay, but ID range was wide and 10% of patients had IQ in the normal range. Behavioral problems included temper tantrums and other difficult behaviors (84%) and night\u2010time awakenings (86%). Optimal care of SMS children is multidisciplinary and requires important parental involvement. In our series, half of patients were able to follow adapted schooling, but 70% of parents had to adapt their working time, illustrating the medical, social, educative, and familial impact of having a child with SMS.\n                  <\/jats:p>","DOI":"10.1111\/cge.13906","type":"journal-article","created":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T00:37:21Z","timestamp":1609115841000},"page":"519-528","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["<scp>Smith\u2010Magenis<\/scp>\n                    syndrome: Clinical and behavioral characteristics in a large retrospective cohort"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9218-4924","authenticated-orcid":false,"given":"Nicolas","family":"Rive Le Gouard","sequence":"first","affiliation":[{"name":"Department of Genetics APHP Nord\u2010Universit\u00e9 de Paris Robert Debr\u00e9 University Hospital and INSERM U1141 NeuroDiderot  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8342-0427","authenticated-orcid":false,"given":"Adeline","family":"Jacquinet","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Nord\u2010Universit\u00e9 de Paris Robert Debr\u00e9 University Hospital and INSERM U1141 NeuroDiderot  Paris France"},{"name":"Department of Genetics Sart Tilman University Hospital  Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4940-5896","authenticated-orcid":false,"given":"Lyse","family":"Ruaud","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Nord\u2010Universit\u00e9 de Paris Robert Debr\u00e9 University Hospital and INSERM U1141 NeuroDiderot  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Deleersnyder","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Nord\u2010Universit\u00e9 de Paris Robert Debr\u00e9 University Hospital and INSERM U1141 NeuroDiderot  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faustine","family":"Ageorges","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Nord\u2010Universit\u00e9 de Paris Robert Debr\u00e9 University Hospital and INSERM U1141 NeuroDiderot  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Gallard","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Nord\u2010Universit\u00e9 de Paris Robert Debr\u00e9 University Hospital and INSERM U1141 NeuroDiderot  Paris 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