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The role of machine learning in autism spectrum disorder assessment and management

Pediatric Research (2025)Cite this article

Abstract

Autism Spectrum Disorder (ASD) presents significant challenges in diagnosis and treatment, driven by its heterogeneous nature and complex aetiology. Recent advances in machine learning (ML) have facilitated exploration of novel approaches to ASD detection, stratification, and intervention opportunities. This narrative review explores the current ML and artificial intelligence (AI) research landscape across several key domains, including early ASD screening, phenotypic stratification, diagnostic biomarkers, neuroimaging, personalised therapies, and the role of automation and robotics in the treatment of this complex condition. Detailed analyses of these approaches emphasise the transformative but not yet realised potential of ML to improve outcomes for individuals with ASD.

Impact

  • Highlights emerging trends, including multimodal AI integration, digital phenotyping, and use of AI to achieve biomarker-driven precision medicine.

  • Provides first comprehensive synthesis of AI advancements in screening, diagnosis and treatment of ASD.

  • Identifies current gaps in AI ASD research, such as dataset heterogeneity, validation issues, and clinical trust barriers.

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Authors and Affiliations

  1. Department of Neonatology, Rotunda Hospital, Dublin, Ireland

    Aoife Reilly & Daniel O’Reilly

  2. Department of Clinical Genetics, Children’s Health Ireland Crumlin, Dublin, Ireland

    Nicola Walsh

  3. School of Biomolecular and Biomedical Science, University College Dublin, Dublin, Ireland

    Daniel O’Reilly

  4. Department of General Paediatrics, Great Ormond Street Hospital, London, UK

    Miriam Smyth

  5. Department of Paediatric Neurology, Children’s Health Ireland at Temple Street, Dublin, Ireland

    Kathleen Gorman

  6. School of Medicine and Medical Science, University College Dublin, Dublin, Ireland

    Kathleen Gorman

  7. Electrical and Computer Engineering Department, Northeastern University, Boston, MA, USA

    Sarah Ostadabbas

  8. Department of Paediatrics, Cork University Hospital, Cork, Ireland

    Claire Power

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Review initially proposed and drafted by A.R., N.W. and C.P., D.O.R. K.G., S.O. and M.S. reviewed and revised critically for intellectually important content. All authors reviewed the draft prior to submission.

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Reilly, A., Walsh, N., O’Reilly, D. et al. The role of machine learning in autism spectrum disorder assessment and management. Pediatr Res (2025). https://doi.org/10.1038/s41390-025-04566-0

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