Lower airway pathology in children with Down syndrome compared to controls

Abstract

Introduction: Children with Down syndrome (DS) often present with respiratory symptoms. Congenital airway anomalies have been described, but prevalence is scarce and a comparison to “healthy” controls is missing. Aim: To compare endoscopic and clinical data of DS children to controls without medical history. Methods: All endoscopic procedures (broncho/laryngoscopy) in patients with DS were reviewed. We compared clinical and endoscopic data to a cohort of 150 children with chronic respiratory symptoms but without medical history. Results: 56 patients DS patients were included. Median age was 3 years (range 0.2-17). 64% were boys. Most common clinical presentation was recurrent infections (41%). Other symptoms were cough and/or noisy breathing (21%) and stridor (20%). Endoscopy was normal in 29%. The largest group of patients (46%) had some form of airway malacia. Tracheal bronchus and subglottic stenosis were both an isolated finding in 4% of patients. 18% presented with combined airway anomalies. Our controls consisted of 150 children without significant underlying disease, who were matched for age and sex. Most common presentations were cough and/or noisy breathing (29%), persistent radiographic abnormalities (20%), and aspiration of a foreign body (15%). We found no airway anomaly in the majority of patients (68%). Other findings were malacia (22%), tracheal bronchus (1%) and subglottic stenosis (1%). A combined anomaly was found in 5%. Conclusion: Congenital airway anomalies were seen in 71% of patients with DS, compared to 32% of controls. Combined anomaly is more frequent in DS. Complete lower airway endoscopy is recommended in patients with DS as it may influence therapeutic decision making.