La Regina Domenico Paolo, Khirani Sonia, Griffon Lucie, Poirault Clément, Nenna Raffaella, Midulla Fabio, Fauroux Brigitte
Department of Maternal Child and Urological Sciences, Paediatrics Specialization, Sapienza University of Rome, Rome, Italy.
Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP Necker Hospital, Paris, France.
Am J Med Genet A. 2025 Aug;197(8):e64069. doi: 10.1002/ajmg.a.64069. Epub 2025 Apr 9.
Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS. All patients with 22q11DS seen at the national reference center of craniofacial anomalies at Necker-Enfants malades hospital (Paris, France) between April 2014 and April 2024 had a systematic respiratory polygraphy (PG) in room air. Clinical data, PGs, and subsequent OSA management were retrospectively analyzed. The data of 52 patients were analyzed. Associated disorders were common, with 79% of the patients having an upper airway anomaly, 58% a cardiopathy, and 30% a pulmonary disease. Mean age at baseline PG was 6.6 ± 4.6 (0.1-18) years. Twelve (23%) patients had an adenoidectomy and/or tonsillectomy, and 10 (19%) patients a posterior flap pharyngoplasty prior to baseline PG. Four patients were treated with continuous positive airway pressure (CPAP) and 2 patients with a cardiopathy were treated with long-term oxygen therapy prior to baseline PG. Mean AHI was 4.0 ± 9.1 (0-43) events/h, with 24 (46%) patients having OSA, with 15 (29%) having mild OSA, 5 (9%) moderate OSA, and 4 (8%) severe OSA. A young age (p = 0.003), an immune deficiency (p = 0.018) and a pulmonary disease (p = 0.028) were more common in patients with OSA as compared to those without OSA. On follow-up, OSA improved after upper airway surgery in 4 patients or spontaneously, with only 2 patients requiring CPAP for persistent moderate OSA. In conclusion, the prevalence of OSA in children with 22q11DS is high. OSA severity is mainly mild except in infants aged < 1 year with an immune deficiency and a pulmonary disease being more common in patients with OSA as compared to those without OSA.
患有22q11.2缺失综合征（22q11DS）的患者由于颅面解剖结构异常，伴有咽部肌张力减退、下颌后缩、小颌畸形和舌后坠，易患阻塞性睡眠呼吸暂停（OSA）。本研究的目的是描述一组22q11DS儿童中OSA的患病率及管理情况。2014年4月至2024年4月期间，在法国巴黎内克尔儿童医院颅面畸形国家参考中心就诊的所有22q11DS患者均在室内空气中进行了系统性呼吸多导睡眠图（PG）检查。对临床数据、PG检查结果及随后的OSA管理情况进行了回顾性分析。分析了52例患者的数据。相关疾病很常见，79%的患者存在上气道异常，58%患有心脏病，30%患有肺部疾病。基线PG检查时的平均年龄为6.6±4.6（0.1 - 18）岁。12例（23%）患者在基线PG检查前进行了腺样体切除术和/或扁桃体切除术，10例（19%）患者在基线PG检查前进行了后瓣咽成形术。4例患者接受了持续气道正压通气（CPAP）治疗，2例患有心脏病的患者在基线PG检查前接受了长期氧疗。平均呼吸暂停低通气指数（AHI）为4.0±9.1（0 - 43）次/小时，24例（46%）患者患有OSA，其中15例（29%）为轻度OSA，5例（9%）为中度OSA，4例（8%）为重度OSA。与无OSA的患者相比，年龄较小（p = 0.003）、免疫缺陷（ p = 0.018）和肺部疾病（p = 0.028）在OSA患者中更为常见。在随访中，4例患者在上气道手术后OSA得到改善或自行改善，只有2例持续性中度OSA患者需要CPAP治疗。总之，22q11DS儿童中OSA的患病率很高。除了1岁以下的婴儿外，OSA严重程度主要为轻度，与无OSA的患者相比，免疫缺陷和肺部疾病在OSA患者中更为常见。
