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

doi:10.1002/ajmg.c.32058

. 2023 Sep;193(3):e32058.

doi: 10.1002/ajmg.c.32058. Epub 2023 Aug 3.

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

Thomas W Frazier^{1

2}, Robyn M Busch^{3

4}, Patricia Klaas³, Katherine Lachlan⁵, Shafali Jeste⁶, Alexander Kolevzon⁷, Eva Loth⁸, Jacqueline Harris⁹, Leslie Speer¹⁰, Tom Pepper¹¹, Kristin Anthony¹², J Michael Graglia¹³, Christal G Delagrammatikas¹⁴, Sandra Bedrosian-Sermone¹⁵, Constance Smith-Hicks⁹, Katie Huba¹, Robert Longyear¹⁶, LeeAnne Green-Snyder¹⁷, Frederick Shic¹⁸, Mustafa Sahin¹⁹, Charis Eng⁴, Antonio Y Hardan²⁰, Mirko Uljarević^{20

21}

Affiliations

¹ Department of Psychology, John Carroll University, University Heights, Ohio, USA.
² Departments of Pediatrics and Psychiatry, SUNY Upstate Medical University, Syracuse, New York, USA.
³ Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
⁴ Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
⁵ Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁶ Division of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA.
⁷ Departments of Psychiatry and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁸ Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, UK.
⁹ Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
¹⁰ Frazier Behavioral Health, Cleveland, Ohio, USA.
¹¹ PTEN Research Foundation, Cheltenham, UK.
¹² PTEN Hamartoma Tumor Syndrome Foundation, Huntsville, Alabama, USA.
¹³ SYNGAP Research Fund, Palo Alto, California, USA.
¹⁴ Malan Syndrome Foundation, Old Bridge, New Jersey, USA.
¹⁵ ADNP Kids Foundation, Brush Prairie, Washington, USA.
¹⁶ Autism Analytica, Syracuse, New York, USA.
¹⁷ Simons Foundation, New York, New York, USA.
¹⁸ Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Washington, USA.
¹⁹ Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
²⁰ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
²¹ Melbourne School of Psychological Sciences, Faculty of Medicine, Dentistry, and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.

PMID: 37534867
PMCID: PMC10543620
DOI: 10.1002/ajmg.c.32058

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

Thomas W Frazier et al. Am J Med Genet C Semin Med Genet. 2023 Sep.

. 2023 Sep;193(3):e32058.

doi: 10.1002/ajmg.c.32058. Epub 2023 Aug 3.

Authors

Affiliations

¹ Department of Psychology, John Carroll University, University Heights, Ohio, USA.
² Departments of Pediatrics and Psychiatry, SUNY Upstate Medical University, Syracuse, New York, USA.
³ Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
⁴ Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
⁵ Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁶ Division of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA.
⁷ Departments of Psychiatry and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁸ Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, UK.
⁹ Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
¹⁰ Frazier Behavioral Health, Cleveland, Ohio, USA.
¹¹ PTEN Research Foundation, Cheltenham, UK.
¹² PTEN Hamartoma Tumor Syndrome Foundation, Huntsville, Alabama, USA.
¹³ SYNGAP Research Fund, Palo Alto, California, USA.
¹⁴ Malan Syndrome Foundation, Old Bridge, New Jersey, USA.
¹⁵ ADNP Kids Foundation, Brush Prairie, Washington, USA.
¹⁶ Autism Analytica, Syracuse, New York, USA.
¹⁷ Simons Foundation, New York, New York, USA.
¹⁸ Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Washington, USA.
¹⁹ Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
²⁰ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
²¹ Melbourne School of Psychological Sciences, Faculty of Medicine, Dentistry, and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.

PMID: 37534867
PMCID: PMC10543620
DOI: 10.1002/ajmg.c.32058

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.

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Conflict of interest statement

Dr. Frazier has received funding or research support from, acted as a consultant to, received travel support from, and/or received a speaker’s honorarium from the PTEN Research Foundation, SYNGAP Research Fund, Malan Syndrome Foundation, ADNP Kids Research Foundation, Quadrant Biosciences, Autism Speaks, Impel NeuroPharma, F. Hoffmann-La Roche AG Pharmaceuticals, the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol-Myers Squibb, National Institutes of Health, and the Brain and Behavior Research Foundation, is employed by and has equity options in Quadrant Biosciences/Autism Analytica, has equity options in MaraBio and Springtide, and has an investor stake in Autism EYES LLC and iSCAN-R. Dr. Kolevzon has received funding or research support from, or acted as a consultant to ADNP Kids Research Foundation, David Lynch Foundation, Klingestein Third Generation Foundation, Ovid Therapeutics, Ritrova Therapeutics, Acadia, Alkermes, Jaguar Therapeutics, GW Pharmaceuticals, Neuren Pharmaceuticals, Scioto Biosciences, and Biogen. Dr. Sahin reports grant support from Novartis, Biogen, Astellas, Aeovian, Bridgebio, and Aucta. He has served on Scientific Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar Therapeutics and Alkermes. Dr. Hardan is a consultant to Beaming Health and IAMA therapeutics. He also has equity options in Quadrant Biosciences/Autism Analytica, and has an investor stake in iSCAN-R. Dr. Shic has acted as a consultant to F. Hoffmann-La Roche AG Pharmaceuticals and Jansen Pharameuticals. The remaining authors have no competing interests to disclose.

Figures

**Figure 1.**
NDGS group differences across webcam measures. Note. SC=sibling controls, UC=unrelated controls, PHTS=PTEN Hamartoma Tumor Syndrome. Other NDGS=other neurodevelopmental genetic syndromes, and NDD=idiopathic neurodevelopmental disability.

See this image and copyright information in PMC

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References

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1. Boateng GO, Neilands TB, Frongillo EA, Melgar-Quinonez HR, & Young SL (2018). Best Practices for Developing and Validating Scales for Health, Social, and Behavioral Research: A Primer. Front Public Health, 6, 149. 10.3389/fpubh.2018.00149 - DOI - PMC - PubMed
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1. Busch RM, Frazier Ii TW, Sonneborn C, Hogue O, Klaas P, Srivastava S, Hardan AY, Martinez-Agosto JA, Sahin M, & Eng C (2023). Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord, 15(1), 3. 10.1186/s11689-022-09468-4 - DOI - PMC - PubMed

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[1] Amit M, Chukoskie L, Skalsky AJ, Garudadri H, & Ng TN (2020). Flexible Pressure Sensors for Objective Assessment of Motor Disorders. Advanced Functional Materials, 30(20). https://doi.org/ARTN1905241 10.1002/adfm.201905241 - DOI

[2] Amit M, Chukoskie L, Skalsky AJ, Garudadri H, & Ng TN (2020). Flexible Pressure Sensors for Objective Assessment of Motor Disorders. Advanced Functional Materials, 30(20). https://doi.org/ARTN1905241 10.1002/adfm.201905241 - DOI

[3] Boateng GO, Neilands TB, Frongillo EA, Melgar-Quinonez HR, & Young SL (2018). Best Practices for Developing and Validating Scales for Health, Social, and Behavioral Research: A Primer. Front Public Health, 6, 149. 10.3389/fpubh.2018.00149 - DOI - PMC - PubMed

[4] Boateng GO, Neilands TB, Frongillo EA, Melgar-Quinonez HR, & Young SL (2018). Best Practices for Developing and Validating Scales for Health, Social, and Behavioral Research: A Primer. Front Public Health, 6, 149. 10.3389/fpubh.2018.00149 - DOI - PMC - PubMed

[5] Bove R, Rowles W, Zhao C, Anderson A, Friedman S, Langdon D, Alexander A, Sacco S, Henry R, Gazzaley A, Feinstein A, & Anguera JA (2021). A novel in-home digital treatment to improve processing speed in people with multiple sclerosis: A pilot study. Multiple Sclerosis, 27(5), 778–789. 10.1177/1352458520930371 - DOI - PubMed

[6] Bove R, Rowles W, Zhao C, Anderson A, Friedman S, Langdon D, Alexander A, Sacco S, Henry R, Gazzaley A, Feinstein A, & Anguera JA (2021). A novel in-home digital treatment to improve processing speed in people with multiple sclerosis: A pilot study. Multiple Sclerosis, 27(5), 778–789. 10.1177/1352458520930371 - DOI - PubMed

[7] Busch RM, Chapin JS, Mester J, Ferguson L, Haut JS, Frazier TW, & Eng C (2013). Cognitive characteristics of PTEN hamartoma tumor syndromes. Genet Med, 15(7), 548–553. 10.1038/gim.2013.1 - DOI - PMC - PubMed

[8] Busch RM, Chapin JS, Mester J, Ferguson L, Haut JS, Frazier TW, & Eng C (2013). Cognitive characteristics of PTEN hamartoma tumor syndromes. Genet Med, 15(7), 548–553. 10.1038/gim.2013.1 - DOI - PMC - PubMed

[9] Busch RM, Frazier Ii TW, Sonneborn C, Hogue O, Klaas P, Srivastava S, Hardan AY, Martinez-Agosto JA, Sahin M, & Eng C (2023). Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord, 15(1), 3. 10.1186/s11689-022-09468-4 - DOI - PMC - PubMed

[10] Busch RM, Frazier Ii TW, Sonneborn C, Hogue O, Klaas P, Srivastava S, Hardan AY, Martinez-Agosto JA, Sahin M, & Eng C (2023). Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord, 15(1), 3. 10.1186/s11689-022-09468-4 - DOI - PMC - PubMed

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

Affiliations

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

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Abstract

Conflict of interest statement

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