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Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome
Cristan Farmer1, Ivy Giserman-Kiss1, Ellora Mohanty1
1Cristan Farmer, Ivy Giserman-Kiss, and Ellora Mohanty, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Latha Valluripalli Soorya, Department of Psychiatry, Rush University Medical Center; Mustafa Sahin, Department of Neurology, Boston Children's Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Alexander Kolevzon, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai and Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Joseph D. Buxbaum, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai; nd Department of Neuroscience, Icahn School of Medicine at Mount Sinai; Elizabeth Berry-Kravis, Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center; Craig M. Powell, Department of Neurobiology, University of Alabama at Birmingham Heersink School of Medicine and Civitan International Research Center for Neurodevelopmental Disorders, University of Alabama at Birmingham Heersink School of Medicine; Jonathan A. Bernstein, Department of Pediatrics, Stanford University School of Medicine; Audrey Thurm, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health.
Abstract:
Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental Synaptopathies Consortium natural history study (N = 207). Across studies, an overwhelming proportion of people with PMS were reported to have delays in acquiring basic skills, and regression or loss of skills was commonly reported across multiple developmental domains, including some after the age of 10. The current descriptive study synthesizes two complementary data sources showing loss occurring in the context of significant delays and frequent lack of milestone attainment in people with PMS. Further work to elucidate mechanisms is needed.
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