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Impact of Trisomy 21 on post pull-through enterocolitis and bowel function in children with Hirschsprung disease: A

Marshall Wallace1, Scott S Short1, Rachel C Crady2

  • 1Division of Pediatric Surgery, Department of Surgery, University of Utah, Salt Lake City, UT, USA.

Journal of Pediatric Surgery
|June 7, 2026
PubMed

Insights

Children with Hirschsprung disease (HD) and Trisomy 21 (T21) experience delayed toilet training for stool. However, they do not show increased rates of Hirschsprung-Associated Enterocolitis (HAEC) or greater bowel management needs compared to children with HD alone.

Area of Science:

  • Pediatric Surgery
  • Genetics
  • Gastroenterology

Background:

  • Hirschsprung disease (HD) is a congenital condition affecting the large intestine.
  • Trisomy 21 (T21), or Down syndrome, is a genetic disorder.
  • The impact of T21 on outcomes for children with HD is not fully understood.

Purpose of the Study:

  • To evaluate the effect of T21 on bowel management, toilet training, and Hirschsprung-Associated Enterocolitis (HAEC) rates in children with HD.
  • To compare outcomes between children with HD only and those with HD and T21 (HD+T21).

Main Methods:

  • Retrospective comparative study of children in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) database.
  • Stratification of patients into HD only and HD+T21 groups.
  • Analysis of bowel management program (BMP) use, HAEC episodes, and toilet-training status.

Main Results:

  • No significant differences in demographics or HAEC rates between HD and HD+T21 groups.
  • Children with HD+T21 were significantly less likely to be toilet trained for stool at ages 4-11 years.
  • T21 independently predicted lower odds of achieving stool toilet training by age 4-7 years.

Conclusions:

  • Children with HD and T21 experience delayed stool toilet training compared to children with HD alone.
  • Delayed toilet training in HD+T21 is not attributable to increased enterocolitis or more intensive bowel management.
  • These findings highlight the need for tailored support for toilet training in children with HD and T21.
Abstract

Keywords:
Bowel functionBowel managementEnterocolitisHirschsprung diseaseTrisomy 21

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