Introduction

Sleep-disordered breathing (SDB) is common in children with PWS. In the current study, we aimed to evaluate the severity of SDB in patients with PWS using polysomnography (PSG), and assess the effect of the underlying genetic mechanism on PSG parameters.

Methods

Children with PWS, referred to our sleep laboratory between March 2016 and January 2020 were enrolled. PSG parameters, demographic data, body mass index (BMI), and symptoms related to SDB were recorded. The effect of non-invasive ventilation strategies and the outcome of therapy on PSG parameters were evaluated.

Results

In our study, 64.5% of the patients had severe sleep apnea syndrome (total apnea hypopnea index (AHI) ≥10 events/hour). 22.6% had significantly high (>5 events/hour) central sleep apnea. Patients with a deletion had significantly lower initial and mean SaO₂, longer sleep time SaO₂ under 90%, oxygen desaturation % and total AHI when compared to those with uniparental disomy. PSG parameters were similar between patients who did or didn't receive growth hormone treatment.

Conclusion

The majority of the PWS patients had severe sleep apnea syndrome characterized mainly by hypopneas which were accompanied by central apneas. There was a more severe impact on oxygen parameters and total AHI in patients with deletions.

中文翻译：

---

Prader willi 综合征患者的睡眠呼吸障碍：潜在遗传机制的影响

介绍

睡眠呼吸障碍 (SDB) 在 PWS 患儿中很常见。在目前的研究中，我们旨在使用多导睡眠图 (PSG) 评估 PWS 患者 SDB 的严重程度，并评估潜在遗传机制对 PSG 参数的影响。

方法

在 2016 年 3 月至 2020 年 1 月期间转诊到我们睡眠实验室的患有 PWS 的儿童被纳入研究。记录 PSG 参数、人口统计数据、体重指数 (BMI) 和与 SDB 相关的症状。评估了无创通气策略和治疗结果对 PSG 参数的影响。

结果

在我们的研究中，64.5% 的患者患有严重的睡眠呼吸暂停综合征（总呼吸暂停低通气指数 (AHI) ≥10 次/小时）。22.6% 有显着高（>5 事件/小时）中枢性睡眠呼吸暂停。与单亲二体患者相比，缺失患者的初始和平均 SaO ₂显着降低，睡眠时间 SaO _{2低于 90%，氧饱和度降低百分比和总 AHI 显着降低。}接受或未接受生长激素治疗的患者的 PSG 参数相似。

结论

大多数 PWS 患者患有严重的睡眠呼吸暂停综合征，主要表现为低通气并伴有中枢性呼吸暂停。缺失患者对氧参数和总 AHI 的影响更为严重。