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Classification of Paediatric Inflammatory Bowel Disease using Machine Learning
E Mossotto1,2, J J Ashton1,3, T Coelho1,3
1Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.
Insights
Machine learning accurately classifies paediatric inflammatory bowel disease (PIBD) subtypes using endoscopic and histological data. Combining these data sources improved diagnostic accuracy, offering a new approach for PIBD diagnosis.
Area of Science:
- Computational biology
- Medical informatics
- Gastroenterology
Background:
- Paediatric inflammatory bowel disease (PIBD), encompassing Crohn's disease (CD), ulcerative colitis (UC), and IBD unclassified (IBDU), presents a growing diagnostic challenge.
- Accurate PIBD diagnosis is crucial for timely and effective treatment strategies.
- Current diagnostic methods may benefit from advanced analytical approaches to improve accuracy.
Purpose of the Study:
- To develop and validate machine learning (ML) models for classifying PIBD subtypes.
- To assess the diagnostic contribution of endoscopic and histological data, individually and combined.
- To explore ML's potential in enhancing diagnostic accuracy for PIBD.
Main Methods:
- Utilized endoscopic and histological data from 287 children diagnosed with PIBD.
- Developed and trained unsupervised and supervised ML models for disease classification.
- Validated the optimal ML model on an independent cohort of 48 PIBD patients.
Main Results:
- Unsupervised clustering revealed four novel subgroups based on colonic involvement but lacked clear CD/UC delineation.
- Supervised ML models achieved classification accuracies of 71.0% (endoscopic), 76.9% (histological), and 82.7% (combined data).
- The optimal combined model demonstrated 83.3% accuracy on an independent validation cohort.
Conclusions:
- Machine learning models, particularly when integrating both endoscopic and histological data, significantly enhance PIBD diagnostic accuracy.
- Supervised ML approaches underscore the necessity of both data types for precise PIBD subtype classification.
- This study provides a framework for applying ML to clinical data, improving diagnostic capabilities in paediatric gastroenterology.
Abstract:
Paediatric inflammatory bowel disease (PIBD), comprising Crohn's disease (CD), ulcerative colitis (UC) and inflammatory bowel disease unclassified (IBDU) is a complex and multifactorial condition with increasing incidence. An accurate diagnosis of PIBD is necessary for a prompt and effective treatment. This study utilises machine learning (ML) to classify disease using endoscopic and histological data for 287 children diagnosed with PIBD. Data were used to develop, train, test and validate a ML model to classify disease subtype. Unsupervised models revealed overlap of CD/UC with broad clustering but no clear subtype delineation, whereas hierarchical clustering identified four novel subgroups characterised by differing colonic involvement. Three supervised ML models were developed utilising endoscopic data only, histological only and combined endoscopic/histological data yielding classification accuracy of 71.0%, 76.9% and 82.7% respectively. The optimal combined model was tested on a statistically independent cohort of 48 PIBD patients from the same clinic, accurately classifying 83.3% of patients. This study employs mathematical modelling of endoscopic and histological data to aid diagnostic accuracy. While unsupervised modelling categorises patients into four subgroups, supervised approaches confirm the need of both endoscopic and histological evidence for an accurate diagnosis. Overall, this paper provides a blueprint for ML use with clinical data.
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