{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T15:04:57Z","timestamp":1789916697662,"version":"4.0.1"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,1,26]],"date-time":"2017-01-26T00:00:00Z","timestamp":1485388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["T32GM007748\u201032"],"award-info":[{"award-number":["T32GM007748\u201032"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"NICHD","doi-asserted-by":"publisher","award":["F32HD068101"],"award-info":[{"award-number":["F32HD068101"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1\u20134% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3\u201324 years. Exclusion criteria included previous adenoid and\/or tonsil removal, a sleep study within the past 6 months, or being treated for apnea with continuous positive airway pressure. This study involved a physical examination\/medical history, lateral cephalogram, 3D photograph, validated sleep questionnaires, an overnight polysomnogram, and urine samples. The main outcome measure was the apnea\u2010hypopnea index. Using a Logic Learning Machine, the best model had a cross\u2010validated negative predictive value of 73% for mild obstructive sleep apnea and 90% for moderate or severe obstructive sleep apnea; positive predictive values were 55% and 25%, respectively. The model included variables from survey questions, medication history, anthropometric measurements, vital signs, patient's age, and physical examination findings. With simple procedures that can be collected at minimal cost, the proposed model could predict which patients with DS were unlikely to have moderate to severe obstructive sleep apnea and thus may not need a diagnostic sleep study.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38137","type":"journal-article","created":{"date-parts":[[2017,1,26]],"date-time":"2017-01-26T07:02:58Z","timestamp":1485414178000},"page":"889-896","source":"Crossref","is-referenced-by-count":57,"title":["A predictive model for obstructive sleep apnea and Down syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Brian G.","family":"Skotko","sequence":"first","affiliation":[{"name":"Down Syndrome Program Division of Medical Genetics Department of Pediatrics Massachusetts General Hospital Boston Massachusetts"},{"name":"Department of Pediatrics Harvard Medical School Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Macklin","sequence":"additional","affiliation":[{"name":"Biostatistics Center Massachusetts General Hospital and Harvard Medical School Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Muselli","sequence":"additional","affiliation":[{"name":"Rulex, Inc. 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