Related Experiment Video
Updated: Nov 2, 2025
05:45
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
13.8K
Outcomes in Hirschsprung's disease with coexisting learning disability
Joseph R Davidson1,2, Kristiina Kyrklund3, Simon Eaton4
1Department of Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK. joseph.davidson@doctors.org.uk.
European Journal of Pediatrics
|June 11, 2021
Summary
Patients with Hirschsprung
Area of Science:
- Pediatric Surgery
- Neurodevelopmental Disorders
- Quality of Life Research
Background:
- Hirschsprung's disease (HSCR) frequently co-occurs with syndromes and anomalies leading to cognitive impairments.
- Outcomes data for HSCR patients with learning disabilities (LD) are scarce in existing literature.
Purpose of the Study:
- To evaluate functional and health-related quality of life (HRQoL) outcomes in patients with HSCR and associated LD.
- To establish LD-specific outcomes for improved family counseling and patient care.
Main Methods:
- A cross-sectional study involving 32 patients with LD and 186 cognitively normal patients with HSCR, treated between 1977 and 2013.
- Assessment of bowel and urologic function using Rintala's BFS and modified DanPSS, alongside HRQoL using PedsQL, GIQLI, and SF-36.
- Proxy completion of surveys for children under 12 and older patients with LD.
Main Results:
- Patients with LD exhibited significantly lower survival rates (76% vs. 99%) and higher incidences of poor functional outcomes, including fecal incontinence (44-60%) and urinary incontinence (46%).
- The use of permanent stoma was substantially higher in the LD group (22% vs. 4%; p = 0.001).
- Multivariate analysis indicated patients with LD were nearly ten times more likely to experience poor continence outcomes (adjusted OR 9.6).
Conclusions:
- Patients with HSCR and associated LD experience demonstrably inferior functional outcomes compared to cognitively normal counterparts.
- Despite functional challenges, HRQoL in patients with LD was comparable to non-LD patients, particularly in social/emotional domains.
- These LD-specific outcomes are crucial for informing families and guiding the management of HSCR patients with cognitive impairments.
Related Concept Videos
01:25Learning Disabilities
339
Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
Dyslexia
Dyslexia is a...
339
01:25Assessment of the Rectum and Anus
612
Evaluating the rectum and anus plays a crucial role in conducting a thorough physical examination of the gastrointestinal system. Although it may be uncomfortable and often embarrassing for the patient, it holds immense diagnostic value, particularly in detecting gastrointestinal diseases and abnormalities. This guide will explain how to perform this assessment using inspection and palpation methods.
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
612
01:27Language and Cognition
529
Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
529
01:17Chronic Bowel Disorders: Introduction
588
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
588
01:30Other Disorders of Digestive System
1.2K
The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...
1.2K
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
404
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
404