ArticleAmerican journal on intellectual and developmental disabilities2025
Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.
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Article in American journal on intellectual and developmental disabilities, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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What it found
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Who cites it
2 citing papers in PubMed.
- Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.American journal on intellectual and developmental disabilities · 2025Article
Corrections and comments
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Authors and funding
11 authors.
Cristan FarmerCristan 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.
Ivy Giserman-KissCristan 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.
Ellora MohantyCristan 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.
Latha Valluripalli SooryaCristan 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.
Mustafa SahinCristan 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.
Alexander KolevzonCristan 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.
Joseph D BuxbaumCristan 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.
Elizabeth Berry-KravisCristan 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.
Craig M PowellCristan 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.
Jonathan A BernsteinCristan 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.
Audrey ThurmCristan 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.
Funding
Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI M. Pilar Trelles · 2014 to 2026
$20.1MNeurodevelopmental and Behavioral Phenotyping ZICMH002961 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI THURM, AUDREY · 2017 to 2025
$12.6MIntramural NIH HHS ZIC MH002961NINDS NIH HHS U54 NS092090
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.
Indexed as
Chromosome DisordersDevelopmental DisabilitiesRegistriesAdolescentAdultChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 22FemaleHumansInfantMaleMiddle AgedRetrospective StudiesYoung Adultdevelopmental trajectorymilestonesPhelan-McDermid syndromeregressionshank3
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