Poster Session I - A86 REAL LIFE DIAGNOSTIC ACCURACY OF HIGH-RESOLUTION ANORECTAL MANOMETRY FOR THE DIAGNOSIS OF HIRSCHSPRUNG’S DISEASE IN CHILDREN

TL;DR

This study evaluates how well high-resolution anorectal manometry (HRARM) can diagnose Hirschsprung’s disease in children with severe constipation, finding it effective overall but with limitations in infants under six months.

Contribution

The study provides real-life diagnostic accuracy data for HRARM in a broad pediatric population with severe constipation, including age-specific performance.

Findings

HRARM had an overall sensitivity of 82% and specificity of 91% for diagnosing Hirschsprung’s disease.

False negatives were more common in infants under six months due to agitation or stool evacuation.

HRARM’s high negative predictive value (99.6%) supports its use as a screening tool in children over one year old.

Abstract

High-Resolution Anorectal Manometry (HRARM) increasingly replaces conventional ARM for the assessment of the rectoanal inhibitory reflex (RAIR) for diagnosing Hirschsprung’s disease (HD). However, historic studies only included patients with a clinical suspicion of HD and its diagnostic accuracy in a broader pediatric population with severe constipation remains unclear.

We aimed to evaluate the diagnostic accuracy of HRARM in diagnosing HD in children with severe constipation.

We retrospectively analyzed HRARM studies performed for severe constipation performed at CHU Sainte-Justine, Montreal, between April 2016 and April 2024. Patients were grouped by age: < 6 months old, 6-12 months old and ≥ 12 months old. RAIR was deemed positive when both reproducible and proportional to balloon volume.

Among 702 patients, eleven (1.6%) were diagnosed with ultrashort or short-segment HD. Overall HRARM sensitivity was 82%, specificity 91%, PPV 13%, and NPV 99.6% (Table 1). Sensitivity increased with age, while specificity and PPV decreased. Two diagnoses were initially missed, both in children < 6 months old. False negatives occurred in infants <6 months due to agitation or stool evacuation. False positives were linked to agitation and sphincter contractions in infants, and megarectum or anxiety in older children. Anal resting pressure did not differ between HD and non-HD patients.

HRARM is a valuable screening tool for HD in children with severe constipation, especially given its high NPV in those >1 year. We recommend anorectal biopsy only in patients with absent or equivocal RAIR if supported by a suggestive clinical history. In infants <6 months, results should be interpreted cautiously, and further investigation remains warranted when HD is clinically suspected despite a present RAIR.

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