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

• Published in: Acta oto-laryngologica Vol. 142; no. 2; pp. 187 - 190
• Main Authors: Yahya, Mohammad Nasyatmuddin, Goh, Bee-See, Mohammad Nasseri, Fahrin Zara, Kamal Nor, Nor Azlin, Wan Md Zin, Wan Nurulhuda, Abdul Latif, Hasniah
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 01-02-2022
• Subjects: Adolescent; Child; Cross-Sectional Studies; Down syndrome; Down Syndrome - complications; Humans; Infant; Laryngomalacia; Larynx; pathology; spectrum; trachea; Trachea - surgery; Upper airway; pathology; Down syndrome; trachea; spectrum; Upper airway
• ISSN: 0001-6489; 1651-2251
• DOI: 10.1080/00016489.2022.2028007

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.
To obtain spectrum of upper airway pathology in DS children-prevalence, causes and management practices.
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.
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.
Early detection and high index of suspicion is required to diagnose and treat these anomalies timely.