High-resolution anorectal manometry detects HD in children ≤2 years old

High-resolution anorectal manometry (HR‐ARM) can be a noninvasive primary screening tool for Hirschsprung’s disease (HD), particularly in children ≤2 years old, as shown in a comprehensive retrospective analysis.

HD, otherwise called congenital aganglionic megacolon, is characterized by the absence of enteric ganglion cells in the intestine's submucosal and myenteric plexuses, causing problems with passing stool. Rectal suction biopsy (RSB) is the gold standard for diagnosing HD. Still, like any surgical procedure, it carries risks of complications such as bleeding, perforation, or infection, particularly in newborns and infants.

Clear guidelines for selecting patients for RSB are still missing. This prompted Professor Oliver Sowulewski from the Department of Paediatrics, Paediatric Gastroenterology, Allergology and Nutrition, Medical University of Gdańsk, Gdańsk, Poland and his team to explore noninvasive alternatives for HD screening in children.

Included in the study were 136 children suspected of HD between 2018 and 2022. They were stratified into three groups by age (≤12 months, ≤24 months, and >24 months). Criteria for HD suspicion included delayed meconium passage, unresponsive chronic constipation, and abnormal results from prior tests such as contrast enema, ultrasound, and plain X-ray. [ESPGHAN 2024, abstract G‐PP117]

All children underwent HR-ARM by a single physician. For those initially requiring alternative interventions, such as bowel washout or treatment for enterocolitis, HR-ARM was deferred until their condition stabilized.

“HR-ARM, supplemented by recto-anal inhibitory reflex (RAIR) assessment using an inflated balloon, contrast enema, and other tests, confirmed 16 HD cases,” reported Sowulewski.

HR-ARM demonstrated 93.75 percent sensitivity and 89.47 percent specificity in detecting HD. It showed true positivity in 15 cases, false positivity in 12, true negativity in 105, and false negativity in one case. The tool consistently performed well in those ≤2 years old but not in older children, which Sowulewski said could be due to “complications from chronic constipation, such as rectal distention.”

“Our study underscores HR-ARM’s promise as a noninvasive HD screening tool, especially in younger children,” he said. “For those ≤1 year and ≤2 years old, there exists no significant disparity in the effectiveness of HR-ARM. However, the sensitivity and positive predictive value of HR-ARM were notably lower in children older than 2 years old.” 

Sowulewski said the limitation of the test in older children warrants consideration. “Establishing standardized protocols is also crucial, particularly for assessing RAIR. Further research is warranted to optimize HR-ARM’s diagnostic role in HD across age groups.”

The typical clinical presentation of HD includes delayed meconium passage, severe constipation without improvement after treatment, abdominal distention, vomiting and failure to thrive.  He cautioned that faecal stasis could lead to bacterial overgrowth and severe complications such as Hirschsprung-associated enterocolitis, which is the leading cause of death in infants.

For this reason alone, children with HD necessitate prompt diagnosis and treatment, he pointed out.