{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T13:12:21Z","timestamp":1789477941882,"version":"build-2803163510"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100023065","name":"State of California","doi-asserted-by":"publisher","award":["SB 840"],"award-info":[{"award-number":["SB 840"]}],"id":[{"id":"10.13039\/100023065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100023065","name":"State of California","doi-asserted-by":"publisher","award":["SB 129"],"award-info":[{"award-number":["SB 129"]}],"id":[{"id":"10.13039\/100023065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Protein phosphatase 2 regulatory subunit B56\u03b4 related neurodevelopmental disorder (\n                    <jats:italic>PPP2R5D\u2010<\/jats:italic>\n                    related NDD) is largely caused by de novo heterozygous missense\n                    <jats:italic>PPP2R5D<\/jats:italic>\n                    variants. We report medical characteristics, longitudinal adaptive functioning, and in\u2010person neurological, motor, cognitive, and electroencephalogram (EEG) activity for\n                    <jats:italic>PPP2R5D\u2010<\/jats:italic>\n                    related NDD. Forty\u2010two individuals (median age 6\u2009years, range\u2009=\u20090.8\u201325.3) with pathogenic\/likely pathogenic\n                    <jats:italic>PPP2R5D<\/jats:italic>\n                    variants were assessed, and almost all variants were missense (97.6%) and de novo (85.7%). Common clinical symptoms were developmental delay, hypotonia, macrocephaly, seizures, autism, behavioral challenges, and sleep problems. The mean Gross motor functional measure\u201066 was 60.2\u2009\u00b1\u200917.3% and the mean Revised upper limb module score was 25.9\u2009\u00b1\u20098.8. The Vineland\u20103 adaptive behavior composite score (VABS\u20103 ABC) at baseline was low (\n                    <jats:italic>M<\/jats:italic>\n                    \u2009=\u200961.7\u2009\u00b1\u200916.8). VABS\u20103 growth scale value scores increased from baseline in all subdomains (range\u2009=\u20090.6\u20135.9) after a mean follow\u2010up of 1.3\u2009\u00b1\u20090.3\u2009years. EEG beta and gamma power were negatively correlated with VABS\u20103 score;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05. Individuals had a mean Quality\u2010of\u2010life inventory\u2010disability score of 74.7\u2009\u00b1\u200911.4. Twenty caregivers (80%) had a risk of burnout based on the Caregiver burden inventory. Overall, the most common clinical manifestations of\n                    <jats:italic>PPP2R5D\u2010<\/jats:italic>\n                    related NDD were impaired cognitive, adaptive function, and motor skills; and EEG activity was associated with adaptive functioning. This clinical characterization describes the natural history in preparation for clinical trials.\n                  <\/jats:p>","DOI":"10.1111\/cge.14612","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T02:28:15Z","timestamp":1724293695000},"page":"34-43","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in\n                    <i>PPP2R5D<\/i>\n                    \u2010related neurodevelopmental disorder"],"prefix":"10.1111","volume":"107","author":[{"given":"Khemika K.","family":"Sudnawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Pediatrics Phramongkutklao Hospital and Phramongkutklao College of Medicine  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0839-6033","authenticated-orcid":false,"given":"Nicol\u00f2","family":"Pini","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Columbia University Irving Medical Center  New York New York USA"},{"name":"Division of Developmental Neuroscience New York State Psychiatric Institute  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Systems Biology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara H.","family":"Kanner","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Regenerative Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Ryu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Calamia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-8902","authenticated-orcid":false,"given":"Jennifer M.","family":"Bain","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatrics Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Goldman","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Montes","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Regenerative Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Systems Biology and Department of Biomedical Informatics Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts 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