Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin Anthony, Graglia J Michael, 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
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...
August 3, 2023: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics