From Predictions to Explanations: Explainable AI for Autism Diagnosis and Identification of Critical Brain Regions

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical brain maturation. However, the adaptation of transfer learning paradigms in machine learning for ASD research remains notably limited. In this study, we propose a computer-aided diagnostic framework with two modules. This chapter presents a two-module framework combining deep learning and explainable AI for ASD diagnosis. The first module leverages a deep learning model fine-tuned through cross-domain transfer learning for ASD classification. The second module focuses on interpreting the model decisions and identifying critical brain regions. To achieve this, we employed three explainable AI (XAI) techniques: saliency mapping, Gradient-weighted Class Activation Mapping, and SHapley Additive exPlanations (SHAP) analysis. This framework demonstrates that cross-domain transfer learning can effectively address data scarcity in ASD research. In addition, by applying three established explainability techniques, the approach reveals how the model makes diagnostic decisions and identifies brain regions most associated with ASD. These findings were compared against established neurobiological evidence, highlighting strong alignment and reinforcing the clinical relevance of the proposed approach.