Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
PMID: 37534867

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.

Authors

  • Thomas W Frazier
    Pediatric Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.
  • Robyn M Busch
    Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • Patricia Klaas
    Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • Katherine Lachlan
    Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Shafali Jeste
    Division of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA.
  • Alexander Kolevzon
    Departments of Psychiatry and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Eva Loth
    Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
  • Jacqueline Harris
    Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Leslie Speer
    Frazier Behavioral Health, Cleveland, Ohio, USA.
  • Tom Pepper
    PTEN Research Foundation, Cheltenham, UK.
  • Kristin Anthony
    PTEN Hamartoma Tumor Syndrome Foundation, Huntsville, Alabama, USA.
  • J Michael Graglia
    SYNGAP Research Fund, Palo Alto, California, USA.
  • Christal G Delagrammatikas
    Malan Syndrome Foundation, Old Bridge, New Jersey, USA.
  • Sandra Bedrosian-Sermone
    ADNP Kids Foundation, Brush Prairie, Washington, USA.
  • Constance Smith-Hicks
    Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Katie Huba
    Department of Psychology, John Carroll University, University Heights, Ohio, USA.
  • Robert Longyear
    Autism Analytica, Syracuse, New York, USA.
  • LeeAnne Green-Snyder
    Simons Foundation, New York, New York, USA.
  • Frederick Shic
    Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Washington, USA.
  • Mustafa Sahin
    Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
  • Charis Eng
    Cleveland Clinic, Cleveland, Ohio, USA.
  • Antonio Y Hardan
    Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
  • Mirko Uljarević
    Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.

Keywords

External Resources

Popular Topics
Recent Journals