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）患者由于颅面特征（面中部）而易患OSAS 发育不全，舌下垂），研究表明，OSAS在这一人群中的患病率明显高于其他人群。 与一般发育中的儿童相比有所增加。腺样体切除术（AT）被认为是一线 儿童OSAS的治疗然而，OSAS解决只有一部分儿童DS后AT。事实上， 许多患有DS的儿童由于持续的呼吸困难而被转诊进行气道正压通气（PAP）治疗。 AT和PAP后的OSAS似乎是DS生活经历的一个重要特征。PAP已经 在治疗阻塞性睡眠呼吸暂停综合征和改善阻塞性睡眠呼吸暂停综合征相关的神经行为症状方面非常有效， 如生活质量、行为、情绪、白天嗜睡和学校表现。然而，PAP作为治疗 在患有DS的儿童中尚未进行充分研究。此外，患者/家属报告的结局是 在这一人群中，早就应该存在重要的知识差距。因此，我们建议利用健康 唐氏综合症儿童的SLeeP（HELP-DS，U 01 HL 125295-S1和U 01 HL 123507-S1）基础设施 并在R61阶段在两个HELP-DS研究中心（费城和辛辛那提）进行混合方法研究 该奖项将告知R33部分奖项期间提出的随机对照试验。 已经接受PAP治疗的DS和OSAS儿童的家庭将接受采访，以确定 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 医疗保健提供者关于PAP依从性的家庭相关决定因素。在R33阶段， 奖，我们的目标是招募86名儿童与DS和OSAS在2个网站，年龄6-18岁，提到PAP 开始治疗OSAS。参与者将被随机分配到一个为期6个月的强化行为 与标准临床护理（CON）相比，干预（INT）可改善PAP依从性， R61阶段确定的生活质量、行为、注意力、家庭相关结局评价， 在基线、6个月和12个月时PAP依从性和卫生保健利用率。这种严谨的设计和 一项全面的研究将解决目前对DS儿童的初步管理方法的不确定性 PAP治疗OSAS的关键问题：a）评估对家庭重要的结果，B） 确定INT与CON在促进PAP依从性方面的功效，c）阐明哪些因素介导或 中度坚持PAP的儿童DS和OSAS，d）确定PAP的使用对 神经行为和家庭相关结局、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.