{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T06:36:32Z","timestamp":1775370992544,"version":"3.50.1"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,7,13]]},"abstract":"<jats:p>Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, intellectual disability and early onset obesity. The physical features of this syndrome are well characterised; however, behavioural features, such as sleep disturbance, are less well understood and difficult to manage. Sleep issues in SMS are likely due to a combination of disturbed melatonin cycle, facial anatomy and obesity-related ventilatory problems. Sleep disorders can be very distressing to patients and their families, as exemplified by our patient's experience, and can worsen behavioural issues as well as general health. This case demonstrates the successful use of non-invasive ventilation in treating underlying obesity hypoventilation syndrome and obstructive sleep apnoea. As a consequence of addressing abnormalities in sleep patterns, some behavioural problems improved.<\/jats:p>","DOI":"10.1136\/bcr-2016-215621","type":"journal-article","created":{"date-parts":[[2016,8,5]],"date-time":"2016-08-05T15:52:58Z","timestamp":1470412378000},"page":"bcr2016215621","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Non-invasive ventilation for sleep-disordered breathing in Smith-Magenis syndrome"],"prefix":"10.1136","volume":"2016","author":[{"given":"Victoria","family":"Connor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3558-7353","authenticated-orcid":false,"given":"Sizheng","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Angus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,8,5]]},"reference":[{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s10882-014-9367-3","article-title":"Effects of behavior problems, family functioning, and family coping on parent stress in families with a child with Smith-Magenis syndrome","volume":"26","author":"Morse","year":"2014","journal-title":"J Dev Phys Disabil"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202009"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.3","first-page":"189","article-title":"Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 p11.2)","volume":"19","author":"Niederhofer","year":"2007","journal-title":"Psychiatr Danub"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.4","first-page":"1207","article-title":"Molecular analysis of the Smith-Magenis syndrome; a possible contiguous gene syndrome associated with del(17)(p11.2)","volume":"49","author":"Greenberg","year":"1991","journal-title":"Am J Hum Genet"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.428"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.7","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1002\/ajmg.a.32700","article-title":"Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome)","volume":"152A","author":"Leoni","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2025042703502665000_2016.aug05_1.bcr2016215621.8","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1002\/ajmg.a.35936","article-title":"Daytime somnolence in an adult with Smith-Magenis syndrome","volume":"161A","author":"Takenouchi","year":"2013","journal-title":"Am J Med Genet A"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-215621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T10:50:33Z","timestamp":1745751033000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-215621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,5]]},"references-count":8,"alternative-id":["10.1136\/bcr-2016-215621"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-215621","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,5]]}}}