Reliable Autism Spectrum Disorder Diagnosis for Pediatrics Using Machine Learning and Explainable AI

Insu Jeon, Minjoong Kim, Dayeong So, Eun Young Kim, Yunyoung Nam, Seungsoo Kim, Sehoon Shim, Joungmin Kim, Jihoon Moon

Background: As the demand for early and accurate diagnosis of autism spectrum disorder (ASD) increases, the integration of machine learning (ML) and explainable artificial intelligence (XAI) is emerging as a critical advancement that promises to revolutionize intervention strategies by improving both accuracy and transparency. Methods: This paper presents a method that combines XAI techniques with a rigorous data-preprocessing pipeline to improve the accuracy and interpretability of ML-based diagnostic tools. Our preprocessing pipeline included outlier removal, missing data handling, and selecting pertinent features based on clinical expert advice. Using R and the caret package (version 6.0.94), we developed and compared several ML algorithms, validated using 10-fold cross-validation and optimized by grid search hyperparameter tuning. XAI techniques were employed to improve model transparency, offering insights into how features contribute to predictions, thereby enhancing clinician trust. Results: Rigorous data-preprocessing improved the models’ generalizability and real-world applicability across diverse clinical datasets, ensuring a robust performance. Neural networks and extreme gradient boosting models achieved the best performance in terms of accuracy, precision, and recall. XAI techniques demonstrated that behavioral features significantly influenced model predictions, leading to greater interpretability. Conclusions: This study successfully developed highly precise and interpretable ML models for ASD diagnosis, connecting advanced ML methods with practical clinical application and supporting the adoption of AI-driven diagnostic tools by healthcare professionals. This study’s findings contribute to personalized intervention strategies and early diagnostic practices, ultimately improving outcomes and quality of life for individuals with ASD.