Large Airway and Lung Findings in Symptomatic Children and Young Adults With Down Syndrome

Epidemiology studies report pulmonary disease, lung infection, and pneumonia as the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but how significant airway and lung diagnoses contribute to morbidity remains unknown. Our goal was to evaluate the presence and presentation of structural lung abnormalities from chest computed tomography (CT) scans in this population.

Retrospective review of chest CT scans performed clinically between 2012 and 2023 merged with clinical data was conducted on individuals with DS (birth-22 years; n = 80) treated at one institution. Chi-square and Fisher's exact tests evaluated associations between large airway and lung findings and co-occurring diagnoses.

Overall, 85.0% (n = 68/80) of patients in this cohort of children with DS (average age = 7.95 years, SD = 6.69) had abnormal CT results: large airway abnormalities only (n = 20, 25.0%), abnormal lung findings only (n = 28, 35.0%), both large airway and lung abnormalities (n = 11, 13.8%), and other abnormal results without large airway and lung abnormalities (n = 9, 11.2%). The most common large airway abnormality was tracheal compression from vascular ring or other aberrant vasculature (16.3%). Common abnormal lung findings were peribronchial thickening (22.5%), cystic abnormality/lucencies, and architectural distortion (18.8%). Children with lung abnormalities were more likely to have a history of obstructive sleep apnea and higher incidence of chronic lung disease, aspiration, respiratory distress syndrome at birth, and pulmonary hypertension.

There was a high rate of abnormalities on chest CT in children with DS who required clinical CT scanning. The moderate association between pulmonary diagnoses and lung findings increases concern that structural lung disease is related to pulmonary morbidity.