Positive Airway Pressure For The Treatment Of The Obstructive Sleep Apnea Syndrome In Children With Down Syndrome

摘要 唐氏综合征(DS)患者由于头面部特征(面中部)易患OSAS 和研究表明，OSAS在这一人群中的患病率明显 与一般发育中的儿童相比有所增加。扁桃体切除术(AT)被认为是一线手术 儿童阻塞性睡眠呼吸暂停综合征的治疗。然而，OSAS在AT后仅能解决一部分DS儿童。事实上, 许多患有DS的儿童由于持续存在而被转介进行气道正压(PAP)治疗 在AT之后，OSAS和PAP似乎是与DS生活在一起的一个重要特征。帕普一直是 被证明在治疗OSAS和改善与OSAS相关的神经行为症状方面非常有效，例如 如生活质量、行为、情绪、日间困倦和学校表现。然而，PAP作为一种治疗方法 因为OSAS在患有DS的儿童中还没有得到很好的研究。此外，患者/家庭报告的结果是 这一人群早就应该有重要的知识鸿沟。因此，我们建议利用健康的 唐氏综合症儿童睡眠(HELP-DS，U01HL125295-S1和U01HL123507-S1)基础设施 并在两个HELP-DS站点(费城和辛辛那提)进行R61阶段的混合方法研究 这将为在该奖项的R33部分期间提出的随机对照试验提供信息。 已经接受PAP治疗的DS和OSAS儿童的家庭将接受采访，以确定 与家庭相关的结果，因为这些结果可能与医疗保健提供者相关的结果不同，并告知 卫生保健提供者关于家庭相关的PAP坚持的决定因素。在R33阶段的 奖项，我们的目标是在两个地点招募86名患有DS和OSAS的儿童，年龄6-18岁，转介到PAP 开始治疗阻塞性睡眠呼吸暂停综合征。参与者将随机接受为期6个月的强化行为 干预(INT)以改善PAP依从性与标准临床护理(CON)并接受标准化 在R61阶段确定的生活质量、行为、注意力、与家庭相关的结果的评估， 在基线、6个月和12个月时的PAP遵从性和医疗保健利用率。这一严谨的设计和 综合研究将解决目前对DS儿童初步管理方法的不确定性 和阻塞性睡眠呼吸暂停综合征，通过解决关键问题来治疗：a)评估对家庭重要的结果，b) 确定INT与CON在促进PAP黏附方面的有效性，c)阐明哪些因素介导或 DS和OSAS儿童对PAP的适度依从性，d)决定使用PAP对 与神经行为和家庭相关的结果、生活质量和医疗保健利用。

Abstract Individuals with Down syndrome (DS) are predisposed to OSAS due to craniofacial features (midface hypoplasia, glossoptosis) and studies have shown that the prevalence of OSAS in this population is markedly increased compared to that of typically developing children. Adenotonsillectomy (AT) is considered first-line treatment for childhood OSAS. However, OSAS resolves in only a portion of children with DS after AT. In fact, many children with DS are referred for positive airway pressure (PAP) therapy initiation due to persistent OSAS after AT, and PAP appears to be an important feature of the experience of living with DS. PAP has been shown to be highly effective at treating OSAS and improve OSAS-associated neurobehavioral symptoms, such as quality of life, behavior, mood, daytime sleepiness and school performance. However, PAP as a treatment for OSAS has not been well-studied in children with DS. Furthermore, patient/family reported outcomes are an important knowledge gap long overdue in this population. Therefore, we propose to leverage the HEalthy SLeeP for Children with Down Syndrome (HELP-DS, U01HL125295-S1 and U01HL123507-S1) infrastructure and conduct in two HELP-DS sites (Philadelphia and Cincinnati) a mixed methods study during the R61 phase of the award that will inform the randomized controlled trial proposed during the R33 part of the award. Families of children with DS and OSAS who are already being treated with PAP will be interviewed to identify family-relevant outcomes as these may differ from healthcare providers-relevant outcomes, and inform healthcare providers about family-relevant determinants of PAP adherence. During the R33 phase of the award, we aim at recruiting 86 children with DS and OSAS at 2 sites, aged 6-18 years, referred to PAP initiation for the treatment of OSAS. Participants will be randomized to a 6-month intensive behavioral intervention (INT) to improve PAP adherence vs standard clinical care (CON) and undergo standardized evaluations of quality of life, behavior, attention, family-relevant outcomes identified during the R61 phase, PAP adherence, and health care utilization at baseline, 6, and 12 months. This rigorous design and comprehensive study will resolve existing uncertainties on initial management approaches for children with DS and OSAS treated with PAP by addressing critical issues: a) assess outcomes of importance to families, b) determine the efficacy of INT vs CON in promoting PAP adherence, c) elucidate which factors mediate or moderate adherence to PAP in children with DS and OSAS, d) determine the effect of PAP use on neurobehavioral and family-relevant outcomes, quality of life, and healthcare utilization.