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Prevalence and Outcomes of Gastrointestinal Anomalies in Down Syndrome

Marwa M Elgendy1, Josef Cortez2, Firas Saker3

  • 1Department of Pediatrics, University of Florida, Jacksonville, Florida.

American Journal of Perinatology
|May 14, 2024
PubMed

Insights

Infants with Down syndrome (DS) have a significantly higher risk of developing both small intestinal atresia and Hirschsprung

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Gastroenterology

Background:

  • Down syndrome (DS) is associated with an increased incidence of congenital gastrointestinal anomalies.
  • Small intestinal atresia and Hirschsprung's disease (HD) are significant congenital gastrointestinal conditions.
  • The co-occurrence of these anomalies in infants with DS requires further investigation.

Purpose of the Study:

  • To determine the prevalence of small intestinal atresia and Hirschsprung's disease (HD) in infants with Down syndrome (DS).
  • To evaluate the impact of these concomitant conditions on infant outcomes.
  • To assess the mortality risk associated with these anomalies in infants with DS.

Main Methods:

  • Analysis of the National Inpatient Sample (NIS) database.
  • Inclusion of infants diagnosed with Down syndrome (DS), small intestinal atresia, Hirschsprung's disease (HD), or both.
  • Utilized regression analysis to adjust for clinical and demographic variables.

Main Results:

  • A total of 66,213,034 infants were analyzed, with 99,861 (0.15%) having DS.
  • The combined occurrence of small intestinal atresia and HD was substantially higher in infants with DS (aOR: 122, 95% CI: 96-154, p < 0.001).
  • Infants with DS and both conditions exhibited significantly increased mortality (aOR: 8.59, 95% CI: 1.95-37.8).

Conclusions:

  • Infants with Down syndrome face an elevated risk of developing concomitant small intestinal atresia and Hirschsprung's disease.
  • This combination of congenital gastrointestinal anomalies in infants with DS is linked to a higher risk of mortality.
  • Early identification and management are crucial for improving outcomes in this vulnerable population.
Abstract

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