Disentangling Representation using Attributes-based Gaussian Estimation for Medical Sound Diagnosis

Accurately isolating disease-related features from confounding covariates (e.g., age, gender, site) and individual variations remains a fundamental challenge in medical image classification. Traditional regression-based approaches may ignore non-linear relations between image features and true covariates. To overcome this issue, we present a generalized Medical Imaging Disentanglement Learning (MedIDL) framework. MedIDL maps image features into three mutually orthogonal latent spaces through specialized disentanglement heads: a disease classification head guided by a supervised loss, a covariate-alignment head constrained by cross-subject similarity matching, and a Gaussian head absorbing individual variations. We evaluated our framework across 7 datasets encompassing diverse imaging modalities. MedIDL outperforms state-of-the-art supervised and self-supervised classification methods in accuracy across all datasets. Association analyses demonstrate that MedIDL successfully isolates target-specific latent representations. Gradient-based interpretability mappings localize pathognomonic patterns aligning with established clinical literature.

Although deep learning models in medical imaging often achieve excellent classification performance, they can rely on shortcut learning, exploiting spurious correlations or confounding factors that are not causally related to the target task. This poses risks in clinical settings, where models must generalize across institutions, populations, and acquisition conditions. Feature disentanglement is a promising approach to mitigate shortcut learning by separating task-relevant information from confounder-related features in latent representations. In this study, we systematically evaluated feature disentanglement methods for mitigating shortcuts in medical imaging, including adversarial learning and latent space splitting based on dependence minimization. We assessed classification performance and disentanglement quality using latent space analyses across one artificial and two medical datasets with natural and synthetic confounders. We also examined robustness under varying levels of confounding and compared computational efficiency across methods. We found that shortcut mitigation methods improved classification performance under strong spurious correlations during training. Latent space analyses revealed differences in representation quality not captured by classification metrics, highlighting the strengths and limitations of each method. Model reliance on shortcuts depended on the degree of confounding in the training data. The best-performing models combine data-centric rebalancing with model-centric disentanglement, achieving stronger and more robust shortcut mitigation than rebalancing alone while maintaining similar computational efficiency. The project code is publicly available at https://github.com/berenslab/medical-shortcut-mitigation.

Deep learning has advanced chest X-ray (CXR) diagnosis, yet demographic biases in learned representations may contribute to performance disparities across intersectional groups. We propose a single-encoder framework combining dual-level decorrelation with prototype-guided cross-group contrastive learning to reduce demographic dependence while accounting for within-class variation. We further propose Demographic Representation Alignment Reduction (DRAR), a new metric that quantifies the reduction in demographic structure within disease representations. The framework is evaluated on four classification tasks using 34,809 CheXpert test images across eight intersectional groups, defined by age, sex and ethnicity. Compared with empirical risk minimization (ERM), our method reduces the mean equalized-odds gap from 15.41% to 10.86% and the AUC gap from 5.95% to 5.01%. Our method achieves a DRAR of 59.04% relative to ERM, with only a slight decrease in mean AUC. These results demonstrate that representation disentanglement can reduce demographic bias and improve intersectional fairness. Code is available at https://github.com/06Yujie/Fair-Medical-Imaging.