Ruggeri Paolo, Manti Sara, Li Pomi Alessandra, Lo Bello Federica, Morana Giorgio, Profazio Claudia, Bushra Mina, Esquinas Antonio
Pulmonology Unit, Department of Biomedical and Dental Sciences, Morphological and Functional Images (BIOMORF), University of Messina, Messina, Italy.
Pediatric Unit, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy
Eur Respir Rev. 2025 Feb 5;34(175). doi: 10.1183/16000617.0070-2024. Print 2025 Jan.
The population with Down syndrome (DS) makes up a significant portion of patients using short- and long-term noninvasive ventilation (NIV). However, limited data are available concerning the use and outcomes for patients with DS compared with other populations. We systematically reviewed articles providing indications, benefits, adherence and limits of long-term NIV use in the paediatric and adult population with DS.
A systematic review of the literature for articles published between January 2013 and November 2023 was conducted using a protocol registered at PROSPERO (CRD42023488712).
In total, 18 studies focusing on the use of noninvasive respiratory support in patients with DS were included in this review. Obstructive sleep apnoea syndrome (OSAS), OSAS post-adenotonsillectomy, hypoventilation and nocturnal hypercapnia were the most common indications for NIV support in patients with DS. However, respiratory anatomical malformation and intellectual disabilities can affect adherence to NIV use. High-flow nasal cannula is an alternative to other noninvasive respiratory support.
Comprehensive and updated consensus compliant with international standards for clinical guidelines is required to significantly improve clinical practice quality, promote evidence-based recommendations and provide tailored interventions in patients with DS.
唐氏综合征（DS）患者在使用短期和长期无创通气（NIV）的患者中占相当大的比例。然而，与其他人群相比，关于DS患者使用NIV的情况和结果的数据有限。我们系统地回顾了有关DS儿童和成人长期使用NIV的适应症、益处、依从性和局限性的文章。
使用在PROSPERO注册的方案（CRD42023488712）对2013年1月至2023年11月期间发表的文章进行文献系统回顾。
本综述共纳入18项关注DS患者使用无创呼吸支持的研究。阻塞性睡眠呼吸暂停综合征（OSAS）、腺样体扁桃体切除术后的OSAS、通气不足和夜间高碳酸血症是DS患者使用NIV支持最常见的适应症。然而，呼吸解剖畸形和智力障碍会影响NIV使用的依从性。高流量鼻导管是其他无创呼吸支持的替代方法。
需要符合国际临床指南标准的全面且最新的共识，以显著提高临床实践质量，推广基于证据的建议，并为DS患者提供量身定制的干预措施。
