{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:35:51Z","timestamp":1753878951135,"version":"3.41.2"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"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":["Journal of Sleep Research"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Children with genetic skeletal disorders have variable conditions that can lead to sleep\u2010disordered breathing, and polysomnography is the gold standard for diagnosing this condition. We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive of sleep\u2010disordered breathing in these patients. We retrospectively collected the medical records of patients with genetic skeletal disorders who underwent polysomnography for 5\u2009years. Twenty\u2010seven children with various genetic skeletal disorders, including achondroplasia (14), Crouzon syndrome (3), acromesomelic dysplasia Maroteaux type (3), Apert syndrome (2), osteopetrosis (1), Jeune dysplasia (1), Desbuquois dysplasia (1), acrodysostosis (1), and spondyloepiphyseal dysplasia (1) were enrolled. The median age at the first polysomnography was 58 (1st\u20133rd quartile: 31\u2013113) months. The overall sleep\u2010disordered breathing results were: 19 (70.3%) had obstructive sleep apneas (OSA) (4 mild, 6 moderate, 9 severe), 2 (7.4%) had central apneas, 4 (14.8%) had nocturnal hypoventilation. There was a significant correlation between non\u2010ambulatory status with both total AHI and OSA (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, rho: \u22120.66\/<jats:italic>p<\/jats:italic>\u2009=\u20090.04, rho: 0.38, respectively). Nine patients received positive airway pressure titration, and the oAHI values of all returned to the normal range. These patients were started with positive airway pressure treatment. Our cohort showed that the majority of the patients with skeletal dysplasia had sleep apnea syndrome characterised mainly by OSA, highlighting the importance of polysomnography screening for sleep disorders. Positive airway pressure therapy represents an effective treatment for sleep\u2010disordered breathing in those patients.<\/jats:p>","DOI":"10.1111\/jsr.13914","type":"journal-article","created":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T05:46:14Z","timestamp":1683006374000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of polysomnography findings in children with genetic skeletal disorders"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6909-7993","authenticated-orcid":false,"given":"Halime","family":"Nay\u0131r B\u00fcy\u00fck\u015fahin","sequence":"first","affiliation":[{"name":"Division of Pulmonology, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1405-8401","authenticated-orcid":false,"given":"Nagehan","family":"Emiralioglu","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"Sim\u015fek Kiper","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9818-8782","authenticated-orcid":false,"given":"Birce","family":"Sunman","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara 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Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6260-1942","authenticated-orcid":false,"given":"Koray","family":"Boduroglu","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7325-1981","authenticated-orcid":false,"given":"Ebru","family":"Yalc\u0131n","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara 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