Department of Respiratory Medicine, Children's Hospital Ireland at Crumlin, Dublin, Ireland.
Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet A. 2020 Dec;182(12):2847-2856. doi: 10.1002/ajmg.a.61855. Epub 2020 Sep 9.
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.
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。