BACKGROUND Sleep disordered breathing (SDB) causes sleep disturbance and daytime symptoms in children with neuromuscular disorders. Although polysomnography (PSG) findings are well described in many neuromuscular disorders, there are limited reports from children with spinal muscular atrophy (SMA). The aim of this study was to determine the sleep architecture and breathing characteristics and non-invasive ventilation (NIV) use in our pediatric SMA cohort. METHODS We conducted a cross-sectional cohort study of all children with SMA in Queensland, Australia. Children were Nusinersen naïve and had a full diagnostic PSG in 2018. The PSG was scored and reported by a single pediatric sleep physician in accordance with American Academy of Sleep Medicine Criteria (2012). RESULTS In sum, 31 children (18 males), Six with Type 1, 16 with Type 2 and nine with Type 3, aged 0.25-18.8 years old were studied. SDB was seen in each SMA type and was more pronounced during rapid eye movement (REM) sleep. Type 1: all patients exhibited SDB, three (50%) with central sleep apnea (CSA) and three (50%) with mixed disease. Type 2: five (31%) had CSA, one (6%) mixed disease, seven (44%) had early SDB and three (19%) had normal sleep breathing. Type 3: four (44%) children had CSA and five had early SDB. No child exhibited obstructive sleep apnea (OSA) alone.Starting NIV significantly reduced mean total PSG Apnea-Hypopnea Index (AHI) scores from a grouped mean of 15.4 events per hour (SD ± 14.6; 95% CI 6.1-24.7) to 4.0 events per hour (SD ± 4.2, 95% CI 1.2-6.5, p = 0.01). CONCLUSION SDB is common in children with SMA and was present in all types. CSA was the most common disorder; with mixed SDB also present in type 1 and 2 SMA.

中文翻译：

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多导睡眠图检查发现小儿脊髓性肌萎缩1-3型。

背景技术睡眠障碍性呼吸（SDB）在患有神经肌肉疾病的儿童中引起睡眠障碍和白天症状。尽管在许多神经肌肉疾病中都很好地描述了多导睡眠图（PSG）的发现，但脊髓型肌萎缩症（SMA）儿童的报道却很少。这项研究的目的是确定我们的儿科SMA队列中的睡眠结构和呼吸特征以及无创通气（NIV）的使用。方法我们在澳大利亚昆士兰州对所有SMA患儿进行了横断面队列研究。儿童为Nusinersen天真儿童，于2018年进行了完整的PSG诊断。根据美国睡眠医学标准（2012），由一名小儿睡眠医生对PSG进行评分和报告。结果总共有31名儿童（18名男性），6名1型儿童。研究对象为年龄在0.25-18.8岁的16型2型和9型3型。在每种SMA类型中都可以看到SDB，并且在快速眼动（REM）睡眠期间更明显。类型1：所有患者均表现为SDB，其中三（50％）名患有中枢性睡眠呼吸暂停（CSA），三名（50％）患有混合性疾病。类型2：五名（31％）患有CSA，一名（6％）混合性疾病，七名（44％）患有早期SDB，三名（19％）睡眠呼吸正常。类型3：四名（44％）儿童患有CSA，五名早期SDB。没有儿童表现出单独的阻塞性睡眠呼吸暂停（OSA）。开始的NIV显着降低了平均PSG呼吸暂停低通气总指数（AHI）的平均得分，从每小时15.4事件的分组平均值（SD±14.6; 95％CI 6.1-24.7）降至4.0事件每小时（SD±4.2，95％CI 1.2-6.5，p = 0.01）。结论SDB在SMA患儿中很常见，并且存在于所有类型的患儿中。CSA是最常见的疾病；