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

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.

Treatment and Patient Reported Outcome in Children with Hirschsprung Disease and Concomitant Congenital Heart Disease.

Purpose. Congenital heart disease (CHD) is reported to be associated with Hirschsprung disease (HD). The aim was to evaluate any differences between children with HD with and without CHD, respectively, with regard to patient characteristics, medical care, and patient reported bowel function. Method. This is a retrospective chart study and a cross-sectional long-term follow-up of patients older than 4 years old, including all children with HD operated on with transanal endorectal pull-through (TERPT) at a tertiary center of pediatric surgery. Information about patient characteristics, diagnostics, surgery, and medical care was compiled. At long-term follow-up, bowel function was assessed by Bowel Function Score. Results. Included were 53 HD-patients, 13 with CHD and 40 without CHD. Children with CHD more commonly presented with failure to thrive; 4 (23%) compared to those without CHD (0%) (p < 0.01). In the long-term follow-up, including 32 patients (6 with CHD), constipation was more commonly reported by children with CHD 5 (83%) than by children without CHD 4 (27%) (p = 0.01). No differences were shown in the other parameters such as fecal control and incontinence. Conclusion. HD-patients with CHD more commonly presented with failure to thrive and more frequently reported constipation than HD-patients without CHD. The findings indicate that HD-patients with CHD might need special consideration in their initial care and long-term follow-up.