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Latest clinical frontiers related to autism diagnostic strategies

Cortese S 1 , Bellato A 2 , Gabellone A 3 , Marzulli L 3 , Matera E 4 , Parlatini V 5 Show all authors , Petruzzelli MG 3 , Persico AM 6 , Delorme R 7 , Fusar-Poli P 8 , Gosling CJ 9 , Solmi M 10 , Margari L 4

Affiliations 

  • 1 Developmental EPI (Evidence synthesis, Prediction, Implementation) Lab, Centre for Innovation in Mental Health, School of Psychology, Faculty of Environmental and Life Sciences, University of Southampton, Southampton, UK; Clinical and Experimental Sciences (CNS and Psychiatry), Faculty of Medicine, University of Southampton, Southampton, UK; Hampshire and Isle of Wight NHS Foundation Trust, Southampton, UK; Hassenfeld Children's Hospital at NYU Langone, New York University Child Study Center, New York City, NY, USA; DiMePRe-J-Department of Precision and Rigenerative Medicine-Jonic Area, University of Bari "Aldo Moro", Bari, Italy. Electronic address: samuele.cortese@soton.ac.uk
  • 2 Developmental EPI (Evidence synthesis, Prediction, Implementation) Lab, Centre for Innovation in Mental Health, School of Psychology, Faculty of Environmental and Life Sciences, University of Southampton, Southampton, UK; Institute for Life Sciences, University of Southampton, Southampton, UK; Mind and Neurodevelopment (MiND) Interdisciplinary Cluster, University of Nottingham, Malaysia, University of Nottingham Malaysia, Semenyih, Malaysia
  • 3 DIBRAIN - Department of Biomedicine Translational and Neuroscience, University of Bari "Aldo Moro", Bari, Italy
  • 4 DiMePRe-J-Department of Precision and Rigenerative Medicine-Jonic Area, University of Bari "Aldo Moro", Bari, Italy
  • 5 Developmental EPI (Evidence synthesis, Prediction, Implementation) Lab, Centre for Innovation in Mental Health, School of Psychology, Faculty of Environmental and Life Sciences, University of Southampton, Southampton, UK; Hampshire and Isle of Wight NHS Foundation Trust, Southampton, UK
  • 6 Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, & Child & Adolescent Neuropsychiatry Program, Modena University Hospital, Modena, Italy
  • 7 Child and Adolescent Psychiatry Department & Child Brain Institute, Robert Debré Hospital, Paris Cité University, Paris, France
  • 8 Early Psychosis: Interventions and Clinical-detection (EPIC) Lab, Department of Psychosis Studies, King's College London, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Outreach and Support in South-London (OASIS) Service, South London and Maudlsey (SLaM) NHS Foundation Trust, London, UK; Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilian-University (LMU), Munich, Germany
  • 9 Developmental EPI (Evidence synthesis, Prediction, Implementation) Lab, Centre for Innovation in Mental Health, School of Psychology, Faculty of Environmental and Life Sciences, University of Southampton, Southampton, UK; Child and Adolescent Psychiatry Department & Child Brain Institute, Robert Debré Hospital, Paris Cité University, Paris, France; Université Paris Nanterre, Laboratoire DysCo, Nanterre, France; Université de Paris Cite', Laboratoire de Psychopathologie et Processus de Santé, Boulogne-Billancourt, France
  • 10 SCIENCES Lab, Department of Psychiatry, University of Ottawa, Ottawa, ON, Canada; Regional Centre for the Treatment of Eating Disorders and On Track: The Champlain First Episode Psychosis Program, Department of Mental Health, The Ottawa Hospital, Ottawa, ON, Canada; Ottawa Hospital Research Institute (OHRI) Clinical Epidemiology Program University of Ottawa, Ottawa, ON, Canada; Department of Child and Adolescent Psychiatry, Charité Universitätsmedizin, Berlin, Germany
Cell Rep Med, 2025 Jan 22.
PMID: 39879991 DOI: 10.1016/j.xcrm.2024.101916

Abstract

The diagnosis of autism is currently based on the developmental history, direct observation of behavior, and reported symptoms, supplemented by rating scales/interviews/structured observational evaluations-which is influenced by the clinician's knowledge and experience-with no established diagnostic biomarkers. A growing body of research has been conducted over the past decades to improve diagnostic accuracy. Here, we provide an overview of the current diagnostic assessment process as well as of recent and ongoing developments to support diagnosis in terms of genetic evaluation, telemedicine, digital technologies, use of machine learning/artificial intelligence, and research on candidate diagnostic biomarkers. Genetic testing can meaningfully contribute to the assessment process, but caution is required when interpreting negative results, and more work is needed to strengthen the transferability of genetic information into clinical practice. Digital diagnostic and machine-learning-based analyses are emerging as promising approaches, but larger and more robust studies are needed. To date, there are no available diagnostic biomarkers. Moving forward, international collaborations may help develop multimodal datasets to identify biomarkers, ensure reproducibility, and support clinical translation.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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