Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre

Abstract

Background

Down syndrome (DS) is the most common human chromosomal genetic disorder; caused by extra copy of chromosome 21–one out of 792 babies globally and one in 950 in Malaysia.

Objectives

To obtain spectrum of upper airway pathology in DS children–prevalence, causes and management practices.

Materials and methods

A cross-sectional study of children with DS aged less than 18 years old with signs of UAO was conducted. Diagnosis of UAO, management and final outcome was observed and documented.

Results

Ninety-one patients were recruited. 20 cases (22%) had significant noisy breathing which indicates the prevalence of upper airway pathology (p=.025). Laryngomalacia (34.5%) was the most common pathology, followed by paediatric SDB (24.1%), tracheal bronchus (17.2%), tracheal stenosis (6.9%), and tracheomalacia (6.9%). Seven cases (7.7%) presented with respiratory distress. 12 cases were managed conservatively, while eight cases required further investigations under general anaesthesia (GA) with/without surgical intervention. Six cases showed symptoms resolution within a week post-surgical intervention, and another case resolved after 30 days and one case resolved after 8 months of post-surgical intervention.

Conclusion and Significance

Early detection and high index of suspicion is required to diagnose and treat these anomalies timely.

Chinese Abstract

背景：唐氏综合症（DS）是最常见的人类染色体遗传疾病；它由多余的 21 号染色体引起——全球 792 名婴儿中有 1 名, 马来西亚 950 名婴儿中有 1 名得此病。

目的：获得 DS 儿童上呼吸道病理学特征范围——患病率、原因和管理方法。

材料和方法：对 18 岁以下的具有UAO 迹象的 DS 患儿进行了横断面研究。观察并记录了 UAO 的诊断、管理和最终结果。

结果：招募了 91 名患者。 20 例 (22%) 有很重的呼吸, 这表明存在上呼吸道病变 (p=.025)。喉软化（34.5%）是最常见的病理, 其次是小儿 SDB（24.1%）、支气管（17.2%）、气管狭窄(6.9%) 和气管软化症 (6.9%)。 7 例（7.7%）出现呼吸窘迫。 12例

保守治疗, 而 8 例需要在有/无手术干预的全身麻醉 (GA) 下进一步调查。6例在手术干预一周内症状消失, 一例在 30 天后症状消失, 一例在手术干预8个月后症状消失。

结论和意义：为及时诊断和处理这些异常, 早期发现和高怀疑指数是必要条件。

Keywords:

• Upper airway
• pathology
• Down syndrome
• spectrum
• trachea

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This study was supported and approved by University Kebangsaan Malaysia Medical Research and Ethics Committee [Ethical Committee Approval No. JEP-2019-081].