Artificial intelligence for detecting autism spectrum disorder: a systematic review and meta-analysis.

Abstract

Background: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition, and early identification is essential for timely intervention. Conventional diagnosis relies on clinical interviews, behavioral observations, caregiver reports, and standardized tools, which are time-consuming and resource-dependent. Artificial intelligence (AI) offers opportunities for screening and adjunctive diagnosis, but studies vary in data sources, model types, and validation methods, requiring systematic evaluation.

Methods: We searched PubMed, Embase, the Cochrane Library, Web of Science, and IEEE Xplore for studies of AI-based ASD detection. Eligible studies were required to provide ASD-versus-non-ASD diagnostic-accuracy data that could be extracted or reliably reconstructed at the independent participant or case level. Risk of bias and applicability were assessed using a modified QUADAS-AI tool. Pooled sensitivity and specificity were estimated with a bivariate Reitsma random-effects model. HSROC AUCs were calculated with bias-corrected and accelerated (BCa) 95% confidence intervals based on 5,000 study-level bootstrap replicates and were omitted when SROC fits were unstable. Sensitivity analyses addressed dataset overlap, model selection, and reference-standard quality.

Results: Of 17,387 records, 26 studies were included. Pooled sensitivity was 0.908 (95% CI: 0.861-0.940), pooled specificity was 0.868 (95% CI: 0.830-0.898), and the HSROC AUC was 0.936 (BCa 95% CI: 0.860-0.973). A dataset-independent analysis of 21 studies yielded lower estimates (sensitivity 0.870, specificity 0.841, AUC 0.900). Leave-one-out results were generally stable. Funnel-plot asymmetry was not significant in the primary analysis and varied in direction and statistical significance across sensitivity analyses.

Conclusions: AI-based models showed relatively high pooled diagnostic performance for ASD detection, but substantial heterogeneity, methodological and applicability concerns, limited external validation, and potential non-independence of underlying datasets limit the certainty and generalizability of the evidence. Funnel-plot analyses did not provide consistent evidence of conventional small-study effects or selective reporting. AI should therefore be considered an adjunct rather than a standalone diagnostic tool. Prospective multicenter validation in representative populations, participant-level evaluation, clearly defined reference diagnoses, prespecified models and operating thresholds, and independent evaluation datasets are needed before broader clinical implementation.