软骨发育不全儿科患者睡眠相关呼吸障碍及多导睡眠图表现的评估
Evaluation of sleep-related breathing disorders and polysomnography findings in pediatric patients with achondroplasia.
文献信息
| PMID | 42878887 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Raziye Atan Habacı |
| 作者单位 | Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye. |
| 期刊 | European journal of pediatrics |
| SCI 分区 | Q1 |
| IF | 3 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 鼻科 |
中文摘要
目的： 描述软骨发育不全儿童首次多导睡眠图（PSG）评估时的睡眠呼吸障碍，并探讨其与临床特征的关联。
方法： 这项回顾性研究纳入2016年3月至2025年2月期间接受评估的49名儿童。采用阻塞性呼吸暂停低通气指数（oAHI）对阻塞性睡眠呼吸暂停综合征（OSAS）进行分类。根据性别、上气道手术史、枕骨大孔狭窄和vosoritide治疗比较总AHI。由于该年龄段的严重程度阈值需要谨慎解读，婴儿的发现也单独呈现。
结果： 中位年龄为4.48岁（范围0.22-16.15）。39名儿童（79.6%）被识别出OSAS；25名（51.0%）符合研究标准的中重度疾病。在15名无报告睡眠相关症状的儿童中，12名（80.0%）患有OSAS，其中7名（46.7%）为中重度疾病。3名儿童的中枢性呼吸暂停指数≥5次/小时，2名（4.1%）存在夜间低通气。总AHI在性别、手术史或枕骨大孔狭窄方面无显著差异。接受vosoritide治疗的儿童中位总AHI为3.2次/小时，未接受治疗者为6.9次/小时（p=0.105）。
结论： 首次PSG评估时OSAS常见，并且在无报告症状的儿童中也可发现。这些发现支持在软骨发育不全中进行客观睡眠评估。回顾性设计以及婴儿PSG的年龄依赖性解读限制了对患病率和严重程度的结论；该研究无法确定vosoritide对呼吸的影响。
已知内容： • 软骨发育不全增加阻塞性和中枢性睡眠呼吸暂停的风险。• 报告的症状可能无法可靠识别睡眠呼吸障碍。
新发现： • 首次PSG时，12/15名无报告症状的儿童患有OSAS；7名为中重度疾病。• 总AHI在vosoritide治疗状态间无显著差异。
英文摘要
PURPOSE: To describe sleep-disordered breathing in children with achondroplasia at their first polysomnography (PSG) assessment and examine associations with clinical characteristics.
METHODS: This retrospective study included 49 children evaluated between March 2016 and February 2025. Obstructive sleep apnea syndrome (OSAS) was classified using the obstructive apnea-hypopnea index (oAHI). Total AHI was compared according to sex, upper airway surgery history, foramen magnum stenosis, and vosoritide treatment. Infant findings were also presented separately because severity thresholds require cautious interpretation at this age.
RESULTS: Median age was 4.48 years (range, 0.22-16.15). OSAS was identified in 39 children (79.6%); 25 (51.0%) met the study criteria for moderate-to-severe disease. Of 15 children without reported sleep-related symptoms, 12 (80.0%) had OSAS, including seven (46.7%) with moderate-to-severe disease. Three children had a central apnea index ≥ 5 events/hour, and two (4.1%) had nocturnal hypoventilation. Total AHI did not differ significantly by sex, surgery history, or foramen magnum stenosis. Median total AHI was 3.2 events/hour in children receiving vosoritide and 6.9 in those not receiving treatment (p = 0.105).
CONCLUSION: OSAS was common at the first PSG assessment and was also found in children without reported symptoms. These findings support objective sleep assessment in achondroplasia. The retrospective design and age-dependent interpretation of infant PSG limit conclusions about prevalence and severity; the study cannot establish a respiratory effect of vosoritide.
WHAT IS KNOWN: • Achondroplasia increases the risk of obstructive and central sleep apnea. • Reported symptoms may not reliably identify sleep-disordered breathing.
WHAT IS NEW: • At first PSG, 12/15 children without reported symptoms had OSAS; 7 had moderate-to-severe disease. • Total AHI did not differ significantly by vosoritide treatment status.