{"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":1789477941185,"version":"build-2803163510"},"reference-count":51,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T00:00:00Z","timestamp":1715731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R35\u2010GM\u2010133408"],"award-info":[{"award-number":["R35\u2010GM\u2010133408"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019738","name":"Office for People With Developmental Disabilities","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ogden syndrome, also known as NAA10\u2010related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic variants in the NAA10 N\u2010terminal acetylation family of proteins. The condition was initially described in 2011 and is characterized by a range of neurologic symptoms, including intellectual disability and seizures, as well as developmental delays, psychiatric symptoms, congenital heart abnormalities, hypotonia, and others. Previously published articles have described the etiology and phenotype of Ogden syndrome, mostly with retrospective analyses; herein, we report prospective data concerning its progress over time. The current study involves a total of 58 distinct participants; of these, 43 caregivers were interviewed using the Vineland\u20103 and answered a survey regarding therapy and other questions, 10 of whom completed the Vineland\u20103 but did not answer the survey, and 5 participants who answered the survey but have not yet performed the Vineland\u20103 due to language constraints. The average age at the time of the most recent assessment was 12.4\u2009years, with individuals ranging in age from 11\u2009months to 40.2\u2009years. Using Vineland\u20103 scores, we show decline in cognitive function over time in individuals with Ogden syndrome (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200953). Sub\u2010domain analysis found the decline to be present across all modalities. In addition, we describe the nature of seizures in this condition in greater detail, as well as investigate how already\u2010available non\u2010pharmaceutical therapies impact individuals with NAA10\u2010related neurodevelopmental syndrome. Additional investigation between seizure and non\u2010seizure groups showed no significant difference in adaptive behavior outcomes. A therapy investigation showed speech therapy to be the most commonly used therapy by individuals with NAA10\u2010related neurodevelopmental syndrome, followed by occupational and physical therapy, with more severely affected individuals receiving more types of therapy than their less\u2010severe counterparts. Early intervention analysis was only significantly effective for speech therapy, with analyses of all other therapies being non\u2010significant. Our study portrays the decline in cognitive function over time of individuals within our cohort, independent of seizure status, and therapies being received, and highlights the urgent need for the development of effective treatments for Ogden syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63651","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T04:57:11Z","timestamp":1715749031000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention"],"prefix":"10.1002","volume":"194","author":[{"given":"Rikhil","family":"Makwana","sequence":"first","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Christ","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randie","family":"Harpell","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5869-0716","authenticated-orcid":false,"given":"Gholson J.","family":"Lyon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  New York New York USA"},{"name":"George A. Jervis Clinic New York State Institute for Basic Research in Developmental Disabilities  New York New York USA"},{"name":"The Graduate Center The City University of New York  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a005868"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ircmb.2015.01.001"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.17712\/nsj.2021.2.20200106"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0901931106"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01091-1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103727"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.17712\/nsj.2017.1.20160244"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12479"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2003-1151-L"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M111.015131"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-1895O"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep16022"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.004"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz111"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.512459"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.085"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101660"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000236"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01451-4"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rasd.2022.102046"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-018-0107-0"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-018-0106-1"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2636"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.2217\/pgs.11.117"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01368-y"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/31enes12060900"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0559-z"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-018-0097-y"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000000707"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-009-0704-9"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.150"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20150168"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-018-0116-z"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61928"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.017"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23001"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003805"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.07.010"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD005495.pub3"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0136-0"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29125"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13030536"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2018.06.008"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035402"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2009.08.008"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.120.316966"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-018-0098-x"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/cch.12790"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29241"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.26355\/eurrev_202011_23796"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32574"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63651","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T11:24:48Z","timestamp":1728473088000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63651"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,15]]},"references-count":51,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/ajmg.a.63651"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63651","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.02.23.24303144","asserted-by":"object"}]},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,15]]},"assertion":[{"value":"2024-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63651"}}