Introduction <p>Clinical differentiation between Hirschsprung’s disease (HD) and idiopathic constipation (IC) is challenging in infants, particularly when suction rectal biopsy and pathological histochemical analysis are not feasible. This study&#xa0;aims to generate and&#xa0;validate a&#xa0;scoring systems to differentiate between&#xa0;HD and IC, based on combined clinical and radiological scoring, to minimise the&#xa0;need for&#xa0;an operative rectal biopsy for screening.</p> Methods <p>This cross-sectional analytical study included 142 patients complaining of chronic constipation, over the period from January-2020 to March-2022. History, examination, and radiological variables were recorded. Definitive diagnosis (HD vs. IC grouping) was made using an operative rectal biopsy under general anaesthesia. A new scoring model was built using statistically-significant points. The diagnostic accuracy was calculated for the new model, as well as a previously proposed checklist.</p> Results <p>The recruited cases presented as neonates, infants, or toddlers. The newly proposed scoring model comprises four items:&#xa0;(a) delayed passage of meconium, (b) unwell/suboptimal nutritional status, (c) radiologically absent distension of the anorectal segment, and (d) a radiologically dilated proximal colon &gt; 2.5-fold. HD scores of 0, 1, 2, 3, or 4 are interpreted as improbable HD, low risk, moderate risk, high risk, and very high risk for HD, respectively. It has an excellent predictive value (<i>p</i>-value &lt; 0.0001). The best cut-off score is &gt; 1, with a sensitivity of 98.6% and specificity of 86.8%. The previously proposed 9-item checklist's best cut-off score is &gt; 5, with a sensitivity of 94.3% and specificity of 79.0%.</p> Conclusion <p>Non-invasive diagnostic tools allow filtering of early presenting cases of IC and HD. A previously proposed 9-point checklist is validated in a statistically-rigorous experiment, a refined new 4-point scoring, to screen for HD is produced, avoiding rectal biopsy for IC patients.</p> Level of evidence <p>II.</p> Type of study <p>Cross-Sectional Analytical Study.</p>

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Generating and validating proposed scoring models for screening and differentiation between Hirschsprung’s disease and idiopathic constipation in children

  • Monica Bassem Rady Youssef,
  • Ahmed Ezzat Abdelnabi Arafat,
  • Mostafa Ahmed Gad,
  • Mahmoud Marei Marei

摘要

Introduction

Clinical differentiation between Hirschsprung’s disease (HD) and idiopathic constipation (IC) is challenging in infants, particularly when suction rectal biopsy and pathological histochemical analysis are not feasible. This study aims to generate and validate a scoring systems to differentiate between HD and IC, based on combined clinical and radiological scoring, to minimise the need for an operative rectal biopsy for screening.

Methods

This cross-sectional analytical study included 142 patients complaining of chronic constipation, over the period from January-2020 to March-2022. History, examination, and radiological variables were recorded. Definitive diagnosis (HD vs. IC grouping) was made using an operative rectal biopsy under general anaesthesia. A new scoring model was built using statistically-significant points. The diagnostic accuracy was calculated for the new model, as well as a previously proposed checklist.

Results

The recruited cases presented as neonates, infants, or toddlers. The newly proposed scoring model comprises four items: (a) delayed passage of meconium, (b) unwell/suboptimal nutritional status, (c) radiologically absent distension of the anorectal segment, and (d) a radiologically dilated proximal colon > 2.5-fold. HD scores of 0, 1, 2, 3, or 4 are interpreted as improbable HD, low risk, moderate risk, high risk, and very high risk for HD, respectively. It has an excellent predictive value (p-value < 0.0001). The best cut-off score is > 1, with a sensitivity of 98.6% and specificity of 86.8%. The previously proposed 9-item checklist's best cut-off score is > 5, with a sensitivity of 94.3% and specificity of 79.0%.

Conclusion

Non-invasive diagnostic tools allow filtering of early presenting cases of IC and HD. A previously proposed 9-point checklist is validated in a statistically-rigorous experiment, a refined new 4-point scoring, to screen for HD is produced, avoiding rectal biopsy for IC patients.

Level of evidence

II.

Type of study

Cross-Sectional Analytical Study.