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Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome

Emily M DeBoer1,2,3, Kristine Wolter-Warmerdam2, Robin R Deterding1,2

  • 1Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

Clinical Pediatrics
|June 12, 2023
PubMed

Insights

Pulmonary diagnoses are common in children with Down syndrome (DS), affecting half by age 10. These lung conditions appear to occur independently of heart disease and pulmonary hypertension (PH).

Area of Science:

  • Pediatric pulmonology
  • Genetics
  • Cardiology

Background:

  • Pulmonary disease, lower respiratory tract infections, and pneumonia are leading causes of death in individuals with Down syndrome (DS).
  • The prevalence and independence of pulmonary diagnoses in children with DS, particularly concerning cardiac disease and pulmonary hypertension (PH), remain unclear.

Purpose of the Study:

  • To investigate the frequency of pulmonary diagnoses in children with Down syndrome.
  • To determine if these pulmonary diagnoses occur independently of cardiac disease and pulmonary hypertension (PH).

Main Methods:

  • Examined cardiopulmonary phenotypes in a cohort of 1248 children with DS.
  • Conducted aptamer-based proteomic analysis of blood in a subset of 120 children.

Main Results:

  • By age 10, 50.8% (634/1248) of children with DS had co-occurring pulmonary diagnoses.
  • Proteomic analysis revealed distinct protein pathways between children with pulmonary diagnoses and those with cardiac disease and/or PH.
  • Heparin sulfate-glycosaminoglycan degradation, nicotinate metabolism, and elastic fiber formation pathways were most prominent in children with pulmonary diagnoses.

Conclusions:

  • Pulmonary diagnoses are highly prevalent in children with Down syndrome.
  • Evidence suggests pulmonary diagnoses in this population may arise independently of cardiac disease and PH.
  • Specific protein pathways are associated with pulmonary conditions in children with DS.

Keywords:
Down syndromedysphagiapneumoniapulmonary hypertensiontrisomy 21

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