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.
Keywords: Down syndrome; Upper airway; pathology; spectrum; trachea.