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爱尔兰共和国唐氏综合征儿童的睡眠呼吸障碍。

Sleep disordered breathing in children with Down syndrome in the Republic of Ireland.

机构信息

Department of Respiratory Medicine, Children's Hospital Ireland at Crumlin, Dublin, Ireland.

Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Am J Med Genet A. 2020 Dec;182(12):2847-2856. doi: 10.1002/ajmg.a.61855. Epub 2020 Sep 9.

Abstract

Down syndrome (DS) is associated with a complex respiratory phenotype, including obstructive sleep apnea syndrome (OSAS). The study explored parent-reported prevalence and presentation of OSAS symptoms in children and adolescents with DS in Ireland. It also investigated treatment and compliance in those who have OSAS. A cross-sectional survey was distributed to parents registered with Down Syndrome Ireland (DSI) (n = 1,343). Data was collated and analyzed using SPSS v23. The response rate was 393 (29%). Twenty-one percent of parents (n = 84) reported a diagnosis of OSAS in their child. The parents of children reported as compliant with continuous positive airway pressure (CPAP) were more likely to report a perceived benefit of treatment (p = .018). Ninety-two percent (n = 212) of children without a formal diagnosis of OSAS had at least one symptom (median 4 symptoms) of the condition. This, the largest survey of parental reporting of OSAS or its symptoms, demonstrates a high reported prevalence of symptoms in children and adolescents with DS in Ireland without a formal diagnosis of OSAS, indicating under-recognition. In treated patients, perception of the benefit of CPAP correlated with reported compliance, suggesting a need for tailored education.

摘要

唐氏综合征(DS)与复杂的呼吸表型有关,包括阻塞性睡眠呼吸暂停综合征(OSAS)。本研究探讨了爱尔兰唐氏综合征患儿和青少年中父母报告的 OSAS 症状的流行情况和表现,并调查了那些患有 OSAS 的患者的治疗和依从性。一项横断面调查分发给了在爱尔兰唐氏综合征协会(DSI)注册的父母(n=1343)。使用 SPSS v23 对数据进行了整理和分析。回复率为 393(29%)。21%的父母(n=84)报告其孩子被诊断为 OSAS。父母报告孩子使用持续气道正压通气(CPAP)治疗依从性较高的,更有可能报告治疗效果良好(p=0.018)。92%(n=212)未经正式诊断为 OSAS 的儿童至少有 1 个(中位数 4 个)该病的症状。这是对父母报告 OSAS 或其症状的最大规模调查,表明在未经正式诊断为 OSAS 的爱尔兰唐氏综合征儿童和青少年中,报告的症状发病率较高,表明存在漏诊。在接受治疗的患者中,CPAP 治疗效果的认知与报告的依从性相关,表明需要进行针对性的教育。

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