{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T23:26:58Z","timestamp":1768346818072,"version":"3.49.0"},"reference-count":41,"publisher":"Informa UK Limited","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>","DOI":"10.1352\/1944-7558-130.5.362","type":"journal-article","created":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:02:12Z","timestamp":1756252932000},"page":"362-379","source":"Crossref","is-referenced-by-count":2,"title":["Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome"],"prefix":"10.1080","volume":"130","author":[{"given":"Cristan","family":"Farmer","sequence":"first","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivy","family":"Giserman-Kiss","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellora","family":"Mohanty","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Latha","family":"Valluripalli Soorya","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Kolevzon","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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. 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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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig M.","family":"Powell","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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 Ped"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Cristan 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\u2019s Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s 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. 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