{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:53:38Z","timestamp":1762642418896,"version":"3.40.5"},"reference-count":30,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,12]],"date-time":"2020-09-12T00:00:00Z","timestamp":1599868800000},"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":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Schaaf\u2010Yang syndrome (SYS) is a genetic disorder caused by truncating variants in the <jats:italic>MAGEL2<\/jats:italic> gene located in the maternally imprinted Prader\u2010Willi syndrome (PWS) region at 15q11\u201013. The SYS phenotype shares features with PWS, a syndrome with known high incidence of sleep disorders. However, the spectrum of sleep\u2010disorders in SYS has not been described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective analysis of polysomnograms from 22 patients in an international SYS cohort. Sleep characteristics for individuals with the common c.1996dupC variant (<jats:italic>n<\/jats:italic>\u2009=\u200910) were compared to other truncating variants (<jats:italic>n<\/jats:italic>\u2009=\u200911).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We collected 33 sleep study reports from 22 patients, ages 2 months \u2013 18.5 years (mean 6.5 years). Mean sleep efficiency was 70.5% (range 45%\u201393%) with arousal index 14.1\/h\u00a0(1.2\u201345\/h). The mean apnea\u2010hypopnea index (AHI) was 19.1\/h (0.9\u201349\/h) with mean obstructive AHI (oAHI) of 16.3\/h\u00a0(0.6\u201349\/h). Mean central apnea index was 2.8\/h\u00a0(0\u201314\/h). Mean oxygen desaturation index was 20.8\/h\u00a0(range 0\u201385\/hr). Obstructive sleep apnea (OSA) was diagnosed in 81%, and 62% had moderate or severe OSA. Elevated central apnea index occurred in 9.5%. Comparison by genotype groups and age did not reveal any difference in OSA findings. Periodic limb movement index (PLMI) was elevated in 4\/15 (26%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>OSA is frequently identified on polysomnography in patients with SYS. The mean PLMI is elevated compared to normative data. Patients with SYS should have routine polysomnography screening due to high risk of sleep disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.25056","type":"journal-article","created":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T15:58:57Z","timestamp":1599321537000},"page":"3162-3167","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Polysomnographic characteristics and sleep\u2010disordered breathing in Schaaf\u2010Yang syndrome"],"prefix":"10.1002","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1555-1425","authenticated-orcid":false,"given":"Weston T.","family":"Powell","sequence":"first","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine, Department of Pediatrics,\u00a0Seattle Children's Hospital University of Washington Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA"},{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan E.","family":"Rech","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"},{"name":"The Menninger Clinic Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Wrede","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine, Department of Pediatrics,\u00a0Seattle Children's Hospital University of Washington Seattle Washington USA"},{"name":"Division of Pediatric Neurology, Department of Neurology,\u00a0Seattle Children's Hospital University of Washington Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,12]]},"reference":[{"issue":"1","key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1186\/s13023-019-1249-4","article-title":"Schaaf\u2010Yang syndrome shows a Prader\u2010Willi syndrome\u2010like phenotype during infancy","volume":"14","author":"Negishi Y","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40650"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.53"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/diseases4010002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1093\/sleep\/zsx162","article-title":"Prevalence and phenotype of sleep disorders in 60 adults with Prader\u2013Willi syndrome","volume":"40","author":"Ghergan A","year":"2017","journal-title":"Sleep"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.07.042"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0101012"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32131"},{"issue":"3","key":"e_1_2_6_10_1","first-page":"24","article-title":"Fatal outcome of sleep apnoea in PWS during the initial phase of growth hormone treatment. 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