The Role of Artificial Intelligence for Early Diagnostic Tools of Autism Spectrum Disorder: A Systematic Review

Objective: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. This systematic review examines the application of artificial intelligence (AI) in diagnosing ASD, focusing on pediatric populations aged 0-18 years.

Materials and methods: A systematic review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Inclusion criteria encompassed studies applying AI techniques for ASD diagnosis, primarily evaluated using metriclike accuracy. Non-English articles and studies not focusing on diagnostic applications were excluded. The literature search covered PubMed, ScienceDirect, CENTRAL, ProQuest, Web of Science, and Google Scholar up to November 9, 2024. Bias assessment was performed using the Joanna Briggs Institute checklist for critical appraisal.

Results: The review included 25 studies. These studies explored AI-driven approaches that demonstrated high accuracy in classifying ASD using various data modalities, including visual (facial, home videos, eye-tracking), motor function, behavioral, microbiome, genetic, and neuroimaging data. Key findings highlight the efficacy of AI in analyzing complex datasets, identifying subtle ASD markers, and potentially enabling earlier intervention. The studies showed improved diagnostic accuracy, reduced assessment time, and enhanced predictive capabilities.

Conclusion: The integration of AI technologies in ASD diagnosis presents a promising frontier for enhancing diagnostic accuracy, efficiency, and early detection. While these tools can increase accessibility to ASD screening in underserved areas, challenges related to data quality, privacy, ethics, and clinical integration remain. Future research should focus on applying diverse AI techniques to large populations for comparative analysis to develop more robust diagnostic models.

Cite this article as: Solek P, Nurfitri E, Sahril I, et al. The role of artificial intelligence for early diagnostic tools of autism spectrum disorder: A systematic review. Turk Arch Pediatr. 2025;60(2):126-140.