Cancelliere Sabrina, Heung Tracy, Fischbach Simone, Klaiman Paula, Bassett Anne S
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.
Sleep Med. 2023 Apr;104:49-55. doi: 10.1016/j.sleep.2023.02.010. Epub 2023 Feb 16.
OBJECTIVE/BACKGROUND: We aimed to evaluate adult-onset obstructive sleep apnea (OSA) and related risk factors, including history of pediatric palatal/pharyngeal surgery to remediate velopharyngeal dysfunction, in 22q11.2 deletion syndrome (22q11.2DS).
PATIENTS/METHODS: Using a retrospective cohort design and standard sleep study-based criteria, we determined presence of adult-onset OSA (age ≥16 years) and relevant variables through comprehensive chart review in a well-characterized cohort of 387 adults with typical 22q11.2 microdeletions (51.4% female, median age 32.3, interquartile range 25.0-42.5, years). We used multivariate logistic regression to identify independent risk factors for OSA.
Of the 73 adults with sleep study data, 39 (53.4%) met criteria for OSA at median age 33.6 (interquartile range 24.0-40.7) years, indicating a minimum OSA prevalence of 10.1% in this 22q11.2DS cohort. History of pediatric pharyngoplasty (odds ratio 2.56, 95% confidence interval 1.15-5.70) was a significant independent predictor of adult-onset OSA, while accounting for other significant independent predictors (asthma, higher body mass index, older age), and for male sex. An estimated 65.5% of those prescribed continuous positive airway pressure therapy were reported as adherent.
In addition to factors of known importance in the general population, delayed effects of pediatric pharyngoplasty may contribute to risk of adult-onset OSA in individuals with 22q11.2DS. The results support increased index of suspicion for OSA in adults with a 22q11.2 microdeletion. Future research with this and other homogeneous genetic models may help to improve outcomes and to better understand genetic and modifiable risk factors for OSA.
目的/背景：我们旨在评估22q11.2缺失综合征（22q11.2DS）患者成人起病的阻塞性睡眠呼吸暂停（OSA）及相关危险因素，包括小儿腭/咽手术史以纠正腭咽功能障碍。
患者/方法：采用回顾性队列设计和基于标准睡眠研究的标准，我们通过对387名具有典型22q11.2微缺失的成年人（51.4%为女性，中位年龄32.3岁，四分位间距25.0 - 42.5岁）进行全面病历审查，确定成人起病OSA（年龄≥16岁）的存在及相关变量。我们使用多因素逻辑回归来确定OSA的独立危险因素。
在73名有睡眠研究数据的成年人中，39名（53.4%）在中位年龄33.6岁（四分位间距24.0 - 40.7岁）时符合OSA标准，表明该22q11.2DS队列中OSA的最低患病率为10.1%。小儿咽成形术史（比值比2.56，95%置信区间1.15 - 5.70）是成人起病OSA的显著独立预测因素，同时考虑了其他显著独立预测因素（哮喘、较高体重指数、年龄较大）以及男性性别。据报告，在接受持续气道正压通气治疗的患者中，估计有65.5%的人坚持治疗。
除了在一般人群中已知重要的因素外，小儿咽成形术的延迟影响可能导致22q11.2DS个体成人起病OSA的风险增加。结果支持对有22q11.2微缺失的成年人提高对OSA的怀疑指数。对该模型及其他同类遗传模型的未来研究可能有助于改善结局，并更好地理解OSA的遗传和可改变危险因素。
