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The needle study: Machine learning as a new method for case-finding in celiac disease.

Chiara Maria Trovato1, Monica Montuori2, Maria Ludovica Costanzo3

  • 1Gastroenterology and Nutrition Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.

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|April 27, 2026
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Summary

Machine learning models can identify children with celiac disease (CeD) using uncommon symptoms. This approach aids in developing better screening strategies for early CeD detection.

Keywords:
artificial intelligencechildrendiagnosisuncommon feature

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Area of Science:

  • Pediatric Gastroenterology
  • Medical Informatics
  • Computational Biology

Background:

  • Celiac disease (CeD) diagnosis can be challenging in children with nonspecific symptoms.
  • Machine learning (ML) offers potential for improving diagnostic accuracy using clinical data.

Purpose of the Study:

  • To develop and evaluate ML prediction models for identifying children requiring CeD screening.
  • To identify uncommon clinical features indicative of CeD in pediatric patients.

Main Methods:

  • Utilized a discovery cohort of children with CeD and matched controls.
  • Collected demographic, symptom, laboratory, and family history data, excluding specific antibody levels.
  • Applied various supervised ML models, including Ridge Classifier and LASSO, with 10-fold cross-validation.

Main Results:

  • A Ridge Classifier model achieved an area under the ROC curve of 0.763.
  • The LASSO model identified 40 predictive features, including muscle pain, reflux-like symptoms, and fatigue.
  • Performance metrics included F1-score of 0.662, sensitivity of 0.652, and specificity of 0.689.

Conclusions:

  • ML models accurately identified CeD in children with nonspecific clinical features.
  • The identified 40 features can enhance case-finding strategies for improved CeD detection.