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Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

Year: 2025

Type: article

Abstract: 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.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.64069