Long-term continence in patients with Hirschsprung's disease and Down syndrome

Abstract

Background and aim: Hirschsprung's disease is more common in children with Down syndrome, but the outcome for continence in this group is unclear. The aim of the present study was to determine the natural history of bowel function in children with Down syndrome and Hirschsprung's disease.

Methods: We undertook a retrospective study of all patients with both Down syndrome and Hirschsprung's disease diagnosed at the Royal Children's Hospital, Melbourne, between 1974 and 2001 using a structured questionnaire.

Results: Ten of the 20 eligible patients were interviewed. Fecal incontinence was common (87%), as were episodes of diarrhea and perianal excoriation (40%). Persistent constipation was relatively unusual (20%). Adverse reactions to food, especially vegetables and fruit, were very common (90%). There was evidence that bowel dysfunction improved with age, particularly sensation of impending stool (P < 0.05), ability to discriminate stool consistency (P = 0.05), constipation (P < 0.05), episodes of diarrhea (P = 0.08) and excoriation (P < 0.05).

Conclusion: Persistent bowel dysfunction is common in children with Down syndrome and Hirschsprung's disease, but there is evidence of improvement with age. There was an unexpectedly high prevalence of food-related adverse reactions.