Learning Cortical Anomaly through Masked Encoding for Unsupervised Heterogeneity Mapping

The detection of heterogeneous mental disorders based on brain readouts remains challenging due to the complexity of symptoms and the absence of reliable biomarkers. This paper introduces CAM (Cortical Anomaly Detection through Masked Image Modeling), a novel self-supervised framework designed for the unsupervised detection of complex brain disorders using cortical surface features. We employ this framework for the detection of individuals on the psychotic spectrum and demonstrate its capabilities compared to state-ofthe-art methods, achieving an AUC of 0.696 for Schizoaffective and 0.769 for Schizophreniform, without the need for any labels. Furthermore, the analysis of atypical cortical regions includes Pars Triangularis and several frontal areas, often implicated in schizophrenia, provide further confidence in our approach. Altogether, we demonstrate a scalable approach for anomaly detection of complex brain disorders based on cortical abnormalities.

Unsupervised Anomaly Detection using Aggregated Normative Diffusion

Early detection of anomalies in medical images such as brain MRI is highly relevant for diagnosis and treatment of many conditions. Supervised machine learning methods are limited to a small number of pathologies where there is good availability of labeled data. In contrast, unsupervised anomaly detection (UAD) has the potential to identify a broader spectrum of anomalies by spotting deviations from normal patterns. Our research demonstrates that existing state-of-the-art UAD approaches do not generalise well to diverse types of anomalies in realistic multi-modal MR data. To overcome this, we introduce a new UAD method named Aggregated Normative Diffusion (ANDi). ANDi operates by aggregating differences between predicted denoising steps and ground truth backwards transitions in Denoising Diffusion Probabilistic Models (DDPMs) that have been trained on pyramidal Gaussian noise. We validate ANDi against three recent UAD baselines, and across three diverse brain MRI datasets. We show that ANDi, in some cases, substantially surpasses these baselines and shows increased robustness to varying types of anomalies. Particularly in detecting multiple sclerosis (MS) lesions, ANDi achieves improvements of up to 178% in terms of AUPRC.

Hierarchical Bayesian Regression for Multi-Site Normative Modeling of Neuroimaging Data

Clinical neuroimaging has recently witnessed explosive growth in data availability which brings studying heterogeneity in clinical cohorts to the spotlight. Normative modeling is an emerging statistical tool for achieving this objective. However, its application remains technically challenging due to difficulties in properly dealing with nuisance variation, for example due to variability in image acquisition devices. Here, in a fully probabilistic framework, we propose an application of hierarchical Bayesian regression (HBR) for multi-site normative modeling. Our experimental results confirm the superiority of HBR in deriving more accurate normative ranges on large multi-site neuroimaging data compared to widely used methods. This provides the possibility i) to learn the normative range of structural and functional brain measures on large multi-site data; ii) to recalibrate and reuse the learned model on local small data; therefore, HBR closes the technical loop for applying normative modeling as a medical tool for the diagnosis and prognosis of mental disorders.