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Language Model Applications for Early Diagnosis of Childhood Epilepsy

Loyens, J.; Slinger, T.; Doornebal, N.; Braun, K.; Otte, W. M.; van Diessen, E.

2025-02-03 neurology
10.1101/2025.01.31.25321308 medRxiv
Show abstract

ObjectiveAccurate and timely epilepsy diagnosis is crucial to reduce delayed or unnecessary treatment. While language serves as an indispensable source of information for diagnosing epilepsy, its computational analysis remains relatively unexplored. This study assessed - and compared - the diagnostic value of different language model applications in extracting information and identifying overlooked language patterns from first-visit documentation to improve the early diagnosis of childhood epilepsy. MethodsWe analyzed 1,561 patient letters from two independent first seizure clinics. The dataset was divided into training and test sets to evaluate performance and generalizability. We employed two approaches: an established Naive Bayes model as a natural language processing technique, and a sentence-embedding model based on the Bidirectional Encoder Representations from Transformers (BERT)-architecture. Both models analyzed anamnesis data only. Within the training sets we identified predictive features, consisting of keywords indicative of epilepsy or no epilepsy. Model outputs were compared to the clinicians final diagnosis (gold standard) after follow-up. We computed accuracy, sensitivity, and specificity for both models. ResultsThe Naive Bayes model achieved an accuracy of 0.73 (95% CI: 0.68-0.78), with a sensitivity of 0.79 (95% CI: 0.74-0.85) and a specificity of 0.62 (95% CI: 0.52-0.72). The sentence-embedding model demonstrated comparable performance with an accuracy of 0.74 (95% CI: 0.68-0.79), sensitivity of 0.74 (95% CI: 0.68-0.80), and specificity of 0.73 (95% CI: 0.61-0.84). ConclusionBoth models demonstrated relatively good performance in diagnosing childhood epilepsy solely based on first-visit patient anamnesis text. Notably, the more advanced sentence-embedding model showed no significant improvement over the computationally simpler Naive Bayes model. This suggests that modeling of anamnesis data does depend on word order for this particular classification task. Further refinement and exploration of language models and computational linguistic approaches are necessary to enhance diagnostic accuracy in clinical practice.

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