Children with Down syndrome (DS) often present with chronic respiratory symptoms. Congenital airway anomalies have been described but data about prevalence is scarce and a comparison to controls is lacking. We aim to compare the endoscopic and clinical data of children with DS to controls without significant medical history.
All endoscopic procedures under general anesthesia (broncho- and/or direct laryngoscopy) in patients with DS were reviewed. We compared clinical and endoscopic data to a cohort of children with respiratory symptoms but without any other relevant medical history.
Endoscopic data were available for 65 patients with DS. The median age was 2.9 years (range: 0.2-17), 63% were boys. The most common clinical presentation was recurrent respiratory infections (37%). Other major symptoms were chronic cough and/or noisy breathing (23%) and stridor (20%). Endoscopy was normal in 29% of patients. The largest group of patients (44%) had some form of airway malacia. Tracheal bronchus and subglottic stenosis were each isolated findings in 3.1% of patients. Twenty percent presented with combined airway anomalies. The control group consisted of 150 children (matched for age and sex) without significant underlying disease. The most common presentations were chronic cough and/or noisy breathing (29%), persistent radiographic abnormalities (20%), and suspicion of aspiration of a foreign body (15%). In the majority of controls (68%), no airway anomaly was found. Other findings were malacia (22%), tracheal bronchus (1%), and subglottic stenosis (1%). A combined anomaly was found in 5%.
Congenital airway anomalies were seen in 71% of patients with DS, compared with 32% of controls. Combined anomalies are more frequent in DS. Complete lower airway endoscopy is recommended in patients with DS as it may influence therapeutic decision-making.

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