Evidence map›Paper›PMID 37534867›Full record

ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2023

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

Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.Autism research : official journal of the International Society for Autism Research · 2025
    Article
  3. Article
  4. Review
  5. Roadmap to advance therapeutics forTherapeutic advances in rare disease
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Thomas W FrazierDepartment of Psychology, John Carroll University, University Heights, Ohio, USA.ORCID 0000-0002-6951-2667
Robyn M BuschDepartment of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Patricia KlaasDepartment of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Katherine LachlanHuman Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Shafali JesteDivision of Neurology, Children's Hospital of Los Angeles, Los Angeles, California, USA.
Alexander KolevzonDepartments of Psychiatry and Pediatrics, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Eva LothDepartment of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, UK.
Jacqueline HarrisDepartment of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Leslie SpeerFrazier Behavioral Health, Cleveland, Ohio, USA.
Tom PepperPTEN Research Foundation, Cheltenham, UK.
Kristin AnthonyPTEN Hamartoma Tumor Syndrome Foundation, Huntsville, Alabama, USA.
J Michael GragliaSYNGAP Research Fund, Palo Alto, California, USA.
Christal G DelagrammatikasMalan Syndrome Foundation, Old Bridge, New Jersey, USA.
Sandra Bedrosian-SermoneADNP Kids Foundation, Brush Prairie, Washington, USA.
Constance Smith-HicksDepartment of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0001-8241-9574
Katie HubaDepartment of Psychology, John Carroll University, University Heights, Ohio, USA.
Robert LongyearAutism Analytica, Syracuse, New York, USA.
LeeAnne Green-SnyderSimons Foundation, New York, New York, USA.
Frederick ShicDepartment of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Washington, USA.ORCID 0000-0002-9040-1259
Mustafa SahinRosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Charis EngGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Antonio Y HardanDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
Mirko UljarevićDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.

Funding

Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI Stewart H Mostofsky · 2020 to 2026
$9.9M
A Big Data Approach Toward the Development of New Quantitative Autism Severity Scores from Existing InstrumentsR15MH129815 · NIMH · JOHN CARROLL UNIVERSITY · PI FRAZIER, THOMAS WILLIAM · 2022 to 2022
$385k
NICHD NIH HHS P50 HD103538NIMH NIH HHS R15 MH129815
6 · The paper itself

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.

Indexed as

Artificial IntelligenceIntellectual DisabilityHumansIntelligencePsychometricsReproducibility of Resultseye trackingfacial expressionsgenetic syndromesneurodevelopmentwebcam

Identifiers

PMID37534867
PMCPMC10543620

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.