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Urinary Outcomes in Patients with Down's Syndrome and Hirschsprung's Disease

Alexander Johannes Martinus Dingemans1, Carlos Albert Reck-Burneo2,3, Molly Fuchs2

  • 1Department of Clinical Genetics, Radboudumc, Nijmegen, The Netherlands.

Insights

Children with Hirschsprung

Area of Science:

  • Pediatric Surgery
  • Urology
  • Genetics

Background:

  • Hirschsprung's disease (HD) and Down's syndrome (DS) are congenital conditions often requiring surgical intervention.
  • Previous research has primarily examined colorectal outcomes in patients with both HD and DS.
  • Urinary outcomes in this specific patient population remain under-explored.

Purpose of the Study:

  • To investigate and compare urinary outcomes in pediatric patients with Hirschsprung's disease, with and without Down's syndrome.
  • To assess the prevalence of urinary symptoms and dysfunctional elimination syndrome in this cohort.

Main Methods:

  • Retrospective review of medical records for patients aged five years and older with Hirschsprung's disease.
  • Utilized the Vancouver Symptom Score to evaluate dysfunctional elimination syndrome symptoms.
  • Compared urinary and fecal symptom prevalence and severity between patients with and without Down's syndrome.

Main Results:

  • A significantly higher prevalence of urinary accidents was observed in patients with Hirschsprung's disease and Down's syndrome (44%) compared to those without DS (6%).
  • Patients with HD and DS reported more severe urinary symptoms, as indicated by higher Vancouver scores.
  • Fecal accidents were also associated with more severe urinary symptoms in the overall HD cohort.

Conclusions:

  • Patients with Down's syndrome represent a distinct subgroup of Hirschsprung's disease patients with a notable increase in postoperative urinary issues.
  • Enhanced focus on postoperative urinary care is crucial for patients with both HD and DS.
  • Improved urinary management can significantly enhance patient quality of life and ease caregiver burden.
Abstract

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