用临床笔记检测自闭症,透明模型比黑箱更准且可解释。
Deep learning for autism detection using clinical notes: A comparison of transfer learning for a transparent and black-box approach
- 用BioBERT分析病历文本,将行为描述映射到诊断标准
- 混合训练数据时达到97%敏感度、98%特异度,优于顺序训练
- 透明模型结果可解释,适合临床部署和可信AI诊断
自闭症谱系障碍(ASD)是一种复杂的神经发育障碍,其发病率上升对冗长的诊断流程带来更大压力。机器学习(ML)在自动化诊断方面展现出潜力,但多数现有模型为黑箱,且通常仅在单一数据集上训练,泛化能力受限。本研究提出一种透明可解释的ML方法,利用先进的语言模型BioBERT分析非结构化临床文本。模型通过标注行为描述并映射至诊断标准,进而输出最终标签(ASD或非ASD)。我们评估了迁移学习在两个真实世界数据集上的表现:分别按顺序训练与混合训练,并对比最优模型在新数据上的迁移能力。同时构建黑箱模型进行对照。透明模型表现稳健,混合训练策略效果最佳(97%敏感度,98%特异度),顺序训练导致性能轻微下降,凸显数据顺序的重要性。黑箱模型在顺序或混合训练下表现较差(90%敏感度,96%特异度)。总体而言,透明模型优于黑箱模型。混合训练略优,应在实际中优先采用。本研究为神经发育障碍诊断中更可信、可泛化、临床可用的AI工具铺平道路。
原文摘要 · Abstract (English)
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose rising prevalence places increasing demands on a lengthy diagnostic process. Machine learning (ML) has shown promise in automating ASD diagnosis, but most existing models operate as black boxes and are typically trained on a single dataset, limiting their generalizability. In this study, we introduce a transparent and interpretable ML approach that leverages BioBERT, a state-of-the-art language model, to analyze unstructured clinical text. The model is trained to label descriptions of behaviors and map them to diagnostic criteria, which are then used to assign a final label (ASD or not). We evaluate transfer learning, the ability to transfer knowledge to new data, using two distinct real-world datasets. We trained on datasets sequentially and mixed together and compared the performance of the best models and their ability to transfer to new data. We also created a black-box approach and repeated this transfer process for comparison. Our transparent model demonstrated robust performance, with the mixed-data training strategy yielding the best results (97 % sensitivity, 98 % specificity). Sequential training across datasets led to a slight drop in performance, highlighting the importance of training data order. The black-box model performed worse (90 % sensitivity, 96 % specificity) when trained sequentially or with mixed data. Overall, our transparent approach outperformed the black-box approach. Mixing datasets during training resulted in slightly better performance and should be the preferred approach when practically possible. This work paves the way for more trustworthy, generalizable, and clinically actionable AI tools in neurodevelopmental diagnostics.
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