唐氏综合征儿童夜间二氧化碳升高与自主神经功能障碍
Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome.
文献信息
| PMID | 42767809 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Jessica Taytard |
| 作者单位 | Pediatric Pulmonology Department, Armand Trousseau Hospital, AP-HP Sorbonne University, Paris, France. |
| 期刊 | Journal of intellectual disability research : JIDR |
| SCI 分区 | Q1 |
| IF | 2.9 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 鼻科 |
中文摘要
背景： 睡眠呼吸障碍（SDB）常使唐氏综合征（DS）复杂化。除上气道阻塞外，新出现的证据提示存在影响CO2调节的自主神经系统（ANS）功能障碍。本研究旨在调查DS儿童的夜间气体交换，并将其与在典型发育（TD）儿童中观察到的结果进行比较，描述SDB和ANS功能障碍的临床体征、执行功能和运动技能，并探讨PtcCO2水平与神经心理学结局之间的潜在关联。
方法： 在这项前瞻性研究中，于2019年10月至2022年3月期间招募了4-16岁、既往未发现阻塞性睡眠呼吸暂停的DS儿童。进行了临床评估、自主神经症状、执行功能问卷以及家庭过夜经皮氧二氧化碳监测；有症状和/或PtcCO2升高的儿童接受了多导睡眠监测。
结果： 共纳入48名DS儿童（中位年龄：8.0 [7.0-12.0]岁），其中30名有可解读的过夜SpO2和PtcCO2记录。夜间PtcCO2中位均值44 [40-46] mmHg，显著高于TD儿童（p = 0.01），包括在无或轻度OSA的亚组中（45 [41.5-46] mmHg）。SDB最常见的临床体征为睡眠不安（62%）、注意力困难（54%）和打鼾（48%），而自主神经功能障碍的眼部（51%）和消化系统（46%）症状常见。未发现夜间PtcCO2与执行功能或运动技能之间存在关联。
结论： DS儿童表现出比TD儿童更高的夜间PtcCO2水平，并伴有提示自主神经功能障碍的临床特征，支持影响化学敏感性的整体ANS功能障碍假说。
英文摘要
BACKGROUND: Sleep-disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been observed in typically developing (TD) children, describe clinical signs of SDB and ANS dysfunction, executive functioning and motor skills and explore potential associations between PtcCO2 levels and neuropsychological outcomes.
METHODS: In this prospective study, children with DS aged 4-16 years without previously identified obstructive sleep apnoea were recruited between October 2019 and March 2022. Clinical assessment, autonomic symptom, executive function questionnaires and home overnight transcutaneous oxycapnography were performed; children with symptoms and/or elevated PtcCO2 underwent polysomnography.
RESULTS: Forty-eight children with DS (median age: 8.0 [7.0-12.0] years) were included, of whom 30 had interpretable overnight SpO2 and PtcCO2 recordings. Median mean nocturnal PtcCO2 was 44 [40-46] mmHg, significantly higher than in TD children (p = 0.01), including in the subgroup with no or mild OSA (45 [41.5-46] mmHg). The most frequent clinical signs of SDB were restless sleep (62%), concentration difficulties (54%) and snoring (48%), whereas ophthalmic (51%) and digestive (46%) symptoms of autonomic dysfunction were common. No association was found between nocturnal PtcCO2 and executive functioning or motor skills.
CONCLUSION: Children with DS exhibit higher nocturnal PtcCO2 levels than TD children, along with clinical features suggestive of dysautonomia, supporting the hypothesis of a global ANS dysfunction affecting chemosensitivity.