Children with Hirschsprung's Disease and Syndromes with Cognitive Dysfunction: Manifestations, Treatment, and Outcomes

Abstract

Introduction To assess differences in initial symptoms, treatments, and bowel function between children with Hirschsprung's disease (HD) with or without a cognitive dysfunction (CD).

Materials and Methods The study included children with HD who underwent transanal endorectal pull-through. A retrospective chart review was performed to collect data on patient characteristics, diagnosis, and treatment. Data on bowel symptoms in children older than 4 years without a colostomy were compiled during a cross-sectional, patient-reported follow-up.

Results Fifty-three children with HD were included; of these, 12 (23%) had CD. The median birth weight was lower, frequency of vomiting as the presenting symptom was lower, and time until the first contact with a pediatric surgeon was higher in children with CD than in those without (3,295 vs. 3,623 g, p = 0.013; 28 vs. 66%, p = 0.02; and 4 days vs. 1 day, p = 0.048, respectively). At follow-up, 5 (15%) of 33 children aged over 4 years had CD. More children without CD had some ability to hold back defecation and sense the urge to defecate than those with CD (p = 0.002 and p = 0.001, respectively).

Conclusion HD children who have CD present with different initial symptoms, have a delay in the first consultation with a pediatric surgeon, and experience poorer bowel function outcomes than HD children without CD. Therefore, HD children with CD should receive special attention in both clinical practice and research.

Keywords

Hirschsprung's disease - pediatrics - bowel function - cognitive dysfunction - transanal endorectal pull-through - long-term outcome

Authorship

Each author has made substantial contributions to conception and design, acquisition of data, and analysis and interpretation of data. Furthermore, all authors have taken part in drafting the article and revising it critically for important intellectual content. All the authors have approved the final version of the manuscript to be published.

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