Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Sep 4;5(3):e103-e109.
doi: 10.1055/s-0039-1696730. eCollection 2019 Jul.

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

Josefine Hedbys  1 , Johan Hasserius  1 , Christina Granéli  1   2 , Einar Arnbjörnsson  1   2 , Kristine Hagelsteen  1   2 , Pernilla Stenström  1   2
Affiliations

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

Josefine Hedbys et al. Surg J (N Y). .

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; bowel function; cognitive dysfunction; long-term outcome; pediatrics; transanal endorectal pull-through.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest None.

Figures

Fig. 1
Fig. 1
Overview of patients with HD who underwent surgery from July 2006 until December 2015 and included in this study. CD, cognitive dysfunction; HD, Hirschsprung's disease.
Fig. 2
Fig. 2
Presenting symptoms and colostomy before transanal endorectal pull-through for Hirschsprung's disease in children with and without CD. CD, cognitive dysfunction.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2001;38(11):729–739. - PMC - PubMed
    1. Burns A J, Pachnis V. Development of the enteric nervous system: bringing together cells, signals and genes. Neurogastroenterol Motil. 2009;21(02):100–102. - PubMed
    1. Heanue T A, Pachnis V. Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies. Nat Rev Neurosci. 2007;8(06):466–479. - PubMed
    1. Badner J A, Sieber W K, Garver K L, Chakravarti A. A genetic study of Hirschsprung disease. Am J Hum Genet. 1990;46(03):568–580. - PMC - PubMed
    1. Spouge D, Baird P A. Hirschsprung disease in a large birth cohort. Teratology. 1985;32(02):171–177. - PubMed