0847 Sleep Disordered Breathing in a case series of 4 children with Trisomy 18

Abstract

Abstract Introduction Trisomy 18 (Edwards syndrome) is the second-most-common viable autosomal trisomy syndrome after trisomy 21, occurring in 1 in 2500 pregnancies. Obstructive Sleep Apnea (OSA) in Trisomy 21 has been well described in the literature. Even though trisomy 18 patients have upper airway obstructive (UAO) features overlapping with trisomy 21 that could predispose them to develop SDB, there is a dearth of data published about it. Report of Cases: We present a case series of four patients with trisomy 18 who were evaluated for SDB aged 17mo-3yrs at the time of the reported polysomnographies (PSGs). Two patients had multiple prior studies. Moderate OSA was noted in two patients, and one was noted to have severe OSA, while the fourth patient had resolution of their severe OSA post adenotonsillectomy (T&A). Reduced sleep efficiency was noted in 2 patients. All but one patient had abnormal EEGs, consistent with known underlying seizure disorders. While all patients desaturated during sleep, only two patients fulfilled the criteria for hypoxemia (SpO2 below 90% for more than 5 minutes). One of these had resolution of hypoxemia with a trial of positive airway pressure therapy (PAP) of 5 cmH2O on a titration study. While capnography showed hypoventilation in two patients, one of the patients was treated with supplemental oxygen and the recommendation for titration PSG study to evaluate the need for PAP. Conclusion With aggressive interventions, children with trisomy 18 have seen a higher survival over the recent years. These children often have micrognathia or retrognathia, midface hypoplasia, glossoptosis, and hypotonia, predisposing them to have UAO. Endoscopic assessments reveal laryngomalacia and/or tracheomalacia, tonsillar and adenoid hypertrophy. In a previously reported study by Kettler et al. (2020), a prevalence of SDB of 44.68% was noted compared to the 1-4% average prevalence in non-syndromic children, hence clinicians should have a low threshold to screen them. In our small case series, all 4 patients had moderate-to-severe OSA, to begin with. Our results show that both surgery and PAP therapy may be successful in the treatment of OSA. More longitudinal data is needed to understand the pathology and management of SDB in these children. Support (If Any)