儿童和青少年埃勒斯-当洛斯综合征患者的阻塞性睡眠呼吸暂停。

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome.

机构信息

Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

出版信息

Respiration. 2019;97(4):284-291. doi: 10.1159/000494328. Epub 2018 Nov 28.

DOI:10.1159/000494328

PMID:30485858

Abstract

BACKGROUND

In Ehlers-Danlos syndrome (EDS), a group of monogenic disorders affecting connective tissues, obstructive sleep apnoea (OSA) is highly prevalent in adults. The prevalence of OSA in children with EDS is unknown.

OBJECTIVES

This prospective cross-sectional study aimed at determining the prevalence of OSA in paediatric EDS patients.

METHODS

Children with EDS (n = 24) were recruited from the Children's Hospital Zurich and matched to healthy controls. Participants completed home respiratory polygraphy and questionnaires (Sleep-Related Breathing Disorder Scale [SRBD], Epworth Sleepiness Scale [ESS], and Child Health Questionnaire [CHQ]). The American Academy of Sleep Medicine criteria were applied for OSA diagnosis (obstructive apnoea-hypopnoea index [oAHI] ≥1/h). Conditional logistic regression was used to compare the prevalence of OSA and to adjust for possible confounding.

RESULTS

OSA was found in 42% of paediatric EDS patients and in 13% of matched controls (OR = 4.5, 95% CI = 0.97-20.83, p = 0.054). The median oAHI was higher in EDS patients than in controls (0.77/h, IQR = 0.19-1.76, vs. 0.24/h, IQR = 0.0-0.60, p < 0.001 adjusted for age, sex, and BMI z-score). EDS patients had lower scores in most CHQ scales and higher SRBD and ESS scores than controls (0.26, IQR = 0.1-0.35, vs. 0.07, IQR = 0-0.19, p = 0.004); 7 ± 4 vs. 5 ± 4, p = 0.033, respectively).

CONCLUSION

OSA is a previously underestimated EDS-related complication increasing disease burden.

摘要

背景

在埃勒斯-当洛斯综合征（EDS）这一组影响结缔组织的单基因疾病中，阻塞性睡眠呼吸暂停（OSA）在成人中发病率很高。患有 EDS 的儿童中 OSA 的患病率尚不清楚。

目的

本前瞻性横断面研究旨在确定儿科 EDS 患者 OSA 的患病率。

方法

从苏黎世儿童医院招募 EDS 患儿（n=24），并与健康对照组相匹配。参与者在家中完成呼吸多导睡眠图和问卷调查（睡眠相关呼吸障碍量表[SRBD]、嗜睡量表[ESS]和儿童健康问卷[CHQ]）。应用美国睡眠医学学会标准诊断 OSA（阻塞性呼吸暂停-低通气指数[oAHI]≥1/h）。采用条件逻辑回归比较 OSA 的患病率，并进行可能的混杂因素调整。

结果

42%的儿科 EDS 患者和 13%的匹配对照组存在 OSA（OR=4.5，95%CI=0.97-20.83，p=0.054）。与对照组相比，EDS 患者的 oAHI 中位数更高（0.77/h，IQR=0.19-1.76，vs. 0.24/h，IQR=0.0-0.60，p<0.001，调整年龄、性别和 BMI z 分数后）。与对照组相比，EDS 患者的大多数 CHQ 量表评分较低，SRBD 和 ESS 评分较高（0.26，IQR=0.1-0.35，vs. 0.07，IQR=0-0.19，p=0.004）；7±4 vs. 5±4，p=0.033）。