The prevalence of lower airway anomalies in children with Down syndrome compared to controls

Abstract

Introduction 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. Methods 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. Results 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%. Conclusion 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.

Individuals with Down syndrome hospitalized with COVID-19 have more severe disease

“…Importantly, we did not find any diagnoses of lower airway anomalies in our patient cohort, although these have been proposed as a cause of increased respiratory infections in patients with DS. 15 Indeed, there are reported cases of patients with DS, airway obstruction, pulmonary hypertension, and congenital heart disease who were hospitalized with COVID-19. 16 Furthermore, we must also consider the unevaluated parameters that may be contributing to the disease in DS.…”

COVID-19 Hospitalization is More Frequent and Severe in Down Syndrome and Affects Patients a Decade Younger.

“…Of note, we did not find any diagnoses of lower airway anomalies in our patient cohort, although they have been proposed as a cause of increased respiratory infections in patients with DS. 14 Furthermore, we must also consider the unevaluated parameters which may be contributing to the disease in DS. For example, B cell numbers and quality, T cell function, secreted inflammatory mediators, and response to type I IFNs might all be factors causing an altered response to SARS-CoV-2 infection in DS.…”

Tracheal anomalies associated with Down syndrome: A systematic review

“…In cohort studies on DS children, the prevalence of airway malacia ranges from 4.4% to 7.1% 11,17 . In DS children requiring endoscopic evaluation of the airway because of respiratory complaints, airway malacia was observed in 32.4%–46% 11,41,44 . When compared with non‐DS controls with airway complaints, airway malacia was observed significantly more often (33% in DS vs. 7.4% in controls).…”

“…Tracheal bronchus in DS children was first described by McLaughlin et al 45 in 1985, who presented one DS child with recurrent pneumonia due to a right displaced apical bronchus originating from the trachea. Since then, several additional cases have been described 21,43,44,47,48 . Interestingly, in a cohort study on children with respiratory complaints requiring flexible laryngotracheobronchoscopy, tracheal bronchus was seen in 21% of DS children compared with 2.1% in non‐DS controls 41 .…”