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Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes |
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| Authors: | Thomas W. Frazier Robyn M. Busch Patricia Klaas Katherine Lachlan Shafali Jeste Alexander Kolevzon Eva Loth Jacqueline Harris Leslie Speer Tom Pepper Kristin Anthony J. Michael Graglia Christal G. Delagrammatikas Sandra Bedrosian-Sermone Constance Smith-Hicks Katie Huba Robert Longyear LeeAnne Green-Snyder Frederick Shic Mustafa Sahin Charis Eng Antonio Y. Hardan Mirko Uljarević |
| Affiliation: | 1. Department of Psychology, John Carroll University, University Heights, Ohio, USA;2. Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA;3. Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA;4. Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK;5. Division of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA;6. Departments of Psychiatry and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA;7. Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, UK;8. Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA;9. Frazier Behavioral Health, Cleveland, Ohio, USA;10. PTEN Research Foundation, Cheltenham, UK;11. PTEN Hamartoma Tumor Syndrome Foundation, Huntsville, Alabama, USA;12. SYNGAP Research Fund, Palo Alto, California, USA;13. Malan Syndrome Foundation, Old Bridge, New Jersey, USA;14. ADNP Kids Foundation, Brush Prairie, Washington, USA;15. Autism Analytica, Syracuse, New York, USA;16. Simons Foundation, New York, New York, USA;17. Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Washington, USA;18. Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA;19. Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA;20. Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA;21. Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA Melbourne School of Psychological Sciences, Faculty of Medicine, Dentistry, and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia |
| Abstract: | This study focused on the development and initial psychometric evaluation of a set of online, webcam-collected, and artificial intelligence-derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testing and qualitative input was used to develop four stimulus paradigms capturing social and cognitive processes, including social attention, receptive vocabulary, processing speed, and single-word reading. The paradigms were administered to a sample of 375 participants, including 163 with NDGS, 56 with idiopathic neurodevelopmental disability (NDD), and 156 neurotypical controls. Twelve measures were created from the four stimulus paradigms. Valid completion rates varied from 87 to 100% across measures, with lower but adequate completion rates in participants with intellectual disability. Adequate to excellent internal consistency reliability (α = 0.67 to 0.95) was observed across measures. Test–retest reproducibility at 1-month follow-up and stability at 4-month follow-up was fair to good (r = 0.40–0.73) for 8 of the 12 measures. All gaze-based measures showed evidence of convergent and discriminant validity with parent-report measures of other cognitive and behavioral constructs. Comparisons across NDGS groups revealed distinct patterns of social and cognitive functioning, including people with PTEN mutations showing a less impaired overall pattern and people with SYNGAP1 mutations showing more attentional, processing speed, and social processing difficulties relative to people with NFIX mutations. Webcam-collected performance measures appear to be a reliable and potentially useful method for objective characterization and monitoring of social and cognitive processes in NDGS and idiopathic NDD. Additional validation work, including more detailed convergent and discriminant validity analyses and examination of sensitivity to change, is needed to replicate and extend these observations. |
| Keywords: | eye tracking facial expressions genetic syndromes neurodevelopment webcam |