Importance

Obstructive sleep apnea (OSA) occurs in 55–97% of people with Down syndrome (DS). Even after adenotonsillectomy, residual OSA often persists into adulthood due, in part, to tongue base collapse. Implantable hypoglossal nerve stimulators are being investigated in children and young adults with DS and persistent, moderate to severe OSA. However, the long-term necessity for such an intervention—especially as patients mature and voltage adjustment becomes warranted—has not been previously reported in the pediatric DS population.

Objective

To assess the long-term need for implantable hypoglossal nerve stimulators and the necessity for voltage adjustment in children and young adults with Down syndrome.

Design

This is a case series from an ongoing clinical trial assessing safety and efficacy of hypoglossal nerve stimulation among 42 children and young adults with DS and persistent OSA, despite adenotonsillectomy and trialed positive airway pressure (PAP) therapy. We focus here on the first 4 participants who have undergone implantation by age 13 and have completed at least 44 months of follow-up.

Participants

4 participants (2 male, 2 female; ages 10–13 years) with DS and persistent, severe OSA (AHI > 10 events/h) underwent hypoglossal nerve stimulator implantation and were followed for 44–58 months.

Setting

Participants completed in-lab sleep studies at baseline (before implantation), 1 year postoperatively, and 44–58 months postoperatively. During their most recent follow-up, 2 participants completed split-night sleep studies in which assessment was done with the device both on and off.

Interventions

Hypoglossal nerve stimulator implantation.

Main outcomes and measures

Stability in titrated and untitrated OSA as measured by the apnea–hypopnea index (AHI); growth measures including BMI; and quality of life as measured by the OSA-18 questionnaire.

Results

Compared to baseline, all 4 participants maintained reductions of at least 50% in AHI over the course of follow-up. At recent follow-up, two participants had persistent, moderate OSA despite stimulation therapy. The other two participants achieved 100% reductions in AHI with stimulation therapy; when they underwent split-night sleep studies, the severe OSA persisted with the device turned off. Improvement in OSA-18 quality of life scores was observed in three of the four participants.

Conclusion

and Relevance: Hypoglossal nerve stimulation continues to effectively control OSA in children with DS as they mature, while their underlying untitrated OSA appears to persist into adulthood.

Trial registration

clinicaltrials.gov Identifier: NCT2344108.

中文翻译：

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舌下神经刺激治疗唐氏综合征患儿阻塞性睡眠呼吸暂停的长期稳定性

重要性

55-97% 的唐氏综合症 (DS) 患者会出现阻塞性睡眠呼吸暂停 (OSA)。即使在腺样体扁桃体切除术后，残留的 OSA 通常会持续到成年，部分原因是舌根塌陷。植入式舌下神经刺激器正在研究用于患有 DS 和持续性、中度至重度 OSA 的儿童和年轻成人。然而，这种干预的长期必要性——特别是随着患者的成熟和电压调整变得有必要——以前在儿科 DS 人群中没有报道过。

客观的

评估患有唐氏综合症的儿童和年轻人对植入式舌下神经刺激器的长期需求以及调整电压的必要性。

设计

这是一项正在进行的临床试验的病例系列，评估了 42 名患有 DS 和持续性 OSA 的儿童和年轻成人中舌下神经刺激的安全性和有效性，尽管有腺体扁桃体切除术和试用气道正压通气 (PAP) 治疗。我们在此关注前 4 名在 13 岁前接受植入并完成至少 44 个月随访的参与者。

参与者

4 名患有 DS 和持续性严重 OSA（AHI > 10 事件/小时）的参与者（2 名男性，2 名女性；年龄 10-13 岁）接受了舌下神经刺激器植入，并随访了 44-58 个月。

环境

参与者在基线（植入前）、术后 1 年和术后 44-58 个月完成了实验室内睡眠研究。在他们最近的随访中，2 名参与者完成了分夜睡眠研究，其中评估是在设备开启和关闭的情况下进行的。

干预措施

舌下神经刺激器植入。

主要成果和措施

通过呼吸暂停-低通气指数 (AHI) 测量的滴定和未滴定 OSA 的稳定性；包括BMI在内的生长指标；通过 OSA-18 问卷测量的生活质量。

结果

与基线相比，在随访过程中，所有 4 名参与者的 AHI 均保持至少 50% 的降低。在最近的随访中，尽管接受了刺激治疗，两名参与者仍存在持续的中度 OSA。其他两名参与者通过刺激疗法实现了 100% 的 AHI 降低；当他们进行分夜睡眠研究时，在设备关闭的情况下，严重的 OSA 仍然存在。在四名参与者中的三名中观察到 OSA-18 生活质量评分有所改善。

结论

和相关性：随着 DS 患儿的成熟，舌下神经刺激继续有效控制 OSA，而其潜在的未调整的 OSA 似乎会持续到成年。

试用注册

Clinicaltrials.gov 标识符：NCT2344108。