LAUSR

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.