Dudoignon Benjamin, Amaddeo Alessandro, Frapin Annick, Thierry Briac, de Sanctis Livio, Arroyo Jorge Olmo, Khirani Sonia, Fauroux Brigitte
AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.
Paris Descartes University, Paris, France.
Am J Med Genet A. 2017 Aug;173(8):2074-2080. doi: 10.1002/ajmg.a.38283. Epub 2017 May 24.
Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea-hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients.
唐氏综合征患儿患阻塞性睡眠呼吸暂停（OSA）的风险增加。本研究的目的是描述一大群唐氏综合征患儿OSA的管理情况。对2013年9月至2016年4月期间评估的所有连续唐氏综合征患者的睡眠研究及后续管理进行了回顾性分析。分析了57例患者的数据：51/53例有可解释的夜间多导睡眠图，4例记录了夜间气体交换情况。基线睡眠研究时的平均年龄为6.2±5.9岁。18例患者（32%）曾接受过上气道手术。平均呼吸暂停低通气指数（AHI）为14±16次/小时，51例患者中有41例（80%）AHI>1次/小时，患有OSA，20例患者（39%）AHI≥10次/小时。因此，8例患者（14%）接受了上气道手术。除2例需要无创呼吸支持的患者外，所有患者的OSA均有改善。19例（33%）患者需要无创呼吸支持。开始无创呼吸支持时的平均年龄为7±7岁。在11例有客观依从性数据的患者中，治疗2±1年时的平均依从性良好，每晚平均使用8小时46分±3小时59分，9例患者每晚使用无创呼吸支持>4小时。无创呼吸支持与夜间气体交换的改善有关。唐氏综合征患者中OSA的患病率很高。上气道手术并不总能纠正OSA。无创呼吸支持是OSA的一种有效治疗方法，大多数患者可实现良好的依从性。
