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.

Outcomes in Hirschsprung’s disease with coexisting learning disability

“…We also found a high incidence of moderate/severe problems withholding defecation, fecal accidents, soiling, constipation, and HAEC. This aligns with other published studies where objective functional measures have been reported in patients with HSCR [6,7].…”

Short and Long-Term Outcomes in Hirschsprung Disease: Are the Syndrome-Associated Patients Really Doing Worse?

“…A similar trend in patients with SA-HD and cognitive impairment has been demonstrated in other studies, such as Hedbys et al in 2019 (12), demonstrating a lower ability to hold back defecation and a higher feeling of urge to defecate in a group of 5 patients with HD and cognitive dysfunction. Davidson et al (13) also found a higher incidence of problems withholding defecation, fecal incontinence, and constipation in their group of 15 pediatric patients with HD, learning disabilities and neurodevelopmental delays.…”

“…Additionally, patients with cognitive impairment were included in this group because the outcomes, particularly regarding bowel control, can be influenced by cognitive function and child development. Several syndromes associated with HD are associated with neurodevelopmental delay, and these patients are often excluded from long‐term follow‐up studies (12,13).…”