Severe central sleep apnea in a child with biallelic variants in NALCN.

The sodium leak channel, nonselective (NALCN), is necessary for the proper function of the neurons that play an important role in the sleep-wake cycle and regulation of breathing patterns during wakefulness and sleep. We report a 38-month-old male with developmental delay, hypotonia, and severe central sleep apnea with periodic breathing requiring noninvasive ventilation during sleep, who was found to have novel biallelic pathogenic variants in NALCN. A review of the literature illustrates 17 additional children with biallelic variants in the NALCN gene. The clinical and sleep manifestations of these children are discussed. CITATION: Maselli K, Park H, Breilyn MS, Arens R. Severe central sleep apnea in a child with biallelic variants in NALCN. J Clin Sleep Med. 2022;18(10):2507-2513.

Obstructive sleep apnea confers lower mortality risk in acute ischemic stroke patients treated with endovascular thrombectomy: National Inpatient Sample analysis 2010-2018.

BackgroundObstructive sleep apnea (OSA) portends increased morbidity and mortality following acute ischemic stroke (AIS). Evaluation of OSA in the setting of AIS treated with endovascular mechanical thrombectomy (MT) has not yet been evaluated in the literature. METHODS: The National Inpatient Sample from 2010 to 2018 was utilized to identify adult AIS patients treated with MT. Those with and without OSA were compared for clinical characteristics, complications, and discharge disposition. Multivariable logistic regression analysis and propensity score adjustment (PA) were employed to evaluate independent associations between OSA and clinical outcome. RESULTS: Among 101 093 AIS patients treated with MT, 6412 (6%) had OSA. Those without OSA were older (68.5 vs 65.6 years old, p<0.001), female (50.5% vs 33.5%, p<0.001), and non-caucasian (29.7% vs 23.7%, p<0.001). The OSA group had significantly higher rates of obesity (41.4% vs 10.5%, p<0.001), atrial fibrillation (47.1% vs 42.2%, p=0.001), hypertension (87.4% vs 78.5%, p<0.001), and diabetes mellitus (41.2% vs 26.9%, p<0.001). OSA patients treated with MT demonstrated lower rates of intracranial hemorrhage (19.1% vs 21.8%, p=0.017), treatment of hydrocephalus (0.3% vs 1.1%, p=0.009), and in-hospital mortality (9.7% vs 13.5%, p<0.001). OSA was independently associated with lower rate of in-hospital mortality (aOR 0.76, 95% CI 0.69 to 0.83; p<0.001), intracranial hemorrhage (aOR 0.88, 95% CI 0.83 to 0.95; p<0.001), and hydrocephalus (aOR 0.51, 95% CI 0.37 to 0.71; p<0.001). Results were confirmed by PA. CONCLUSIONS: Our findings suggest that MT is a viable and safe treatment option for AIS patients with OSA.