دورية أكاديمية
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.
العنوان: | Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention. |
---|---|
المؤلفون: | Makwana R; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, USA., Christ C; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, USA., Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, USA., Harpell R; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, USA., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, USA.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, USA.; The Graduate Center, The City University of New York, New York, New York, USA. |
المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63651. Date of Electronic Publication: 2024 May 15. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
مواضيع طبية MeSH: | Seizures*/genetics , Seizures*/physiopathology , Seizures*/therapy, Humans ; Female ; Male ; Child ; Child, Preschool ; Adult ; Infant ; Adolescent ; Intellectual Disability/genetics ; Young Adult ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/therapy ; N-Terminal Acetyltransferase E/genetics ; N-Terminal Acetyltransferase A/genetics ; Phenotype |
مستخلص: | Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic variants in the NAA10 N-terminal 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-3 and answered a survey regarding therapy and other questions, 10 of whom completed the Vineland-3 but did not answer the survey, and 5 participants who answered the survey but have not yet performed the Vineland-3 due to language constraints. The average age at the time of the most recent assessment was 12.4 years, with individuals ranging in age from 11 months to 40.2 years. Using Vineland-3 scores, we show decline in cognitive function over time in individuals with Ogden syndrome (n = 53). Sub-domain 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-available non-pharmaceutical therapies impact individuals with NAA10-related neurodevelopmental syndrome. Additional investigation between seizure and non-seizure 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-related neurodevelopmental syndrome, followed by occupational and physical therapy, with more severely affected individuals receiving more types of therapy than their less-severe counterparts. Early intervention analysis was only significantly effective for speech therapy, with analyses of all other therapies being non-significant. 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. (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.) |
التعليقات: | Update of: medRxiv. 2024 Feb 24:2024.02.23.24303144. doi: 10.1101/2024.02.23.24303144. (PMID: 38585745) |
References: | Mov Disord. 2022 Sep;37(9):1955-1957. (PMID: 35730864) Child Care Health Dev. 2020 Sep;46(5):563-570. (PMID: 32478416) Sci Rep. 2015 Nov 02;5:16022. (PMID: 26522270) Mov Disord. 2022 Nov;37(11):2320-2321. (PMID: 36221186) Exp Mol Med. 2018 Jul 27;50(7):1-13. (PMID: 30054468) Exp Mol Med. 2018 Jul 27;50(7):1-12. (PMID: 30054466) Eur J Hum Genet. 2023 Jul;31(7):824-833. (PMID: 37130971) Circ Res. 2021 Apr 16;128(8):1156-1169. (PMID: 33557580) Hum Mutat. 2016 Aug;37(8):755-64. (PMID: 27094817) Am J Med Genet A. 2021 Jan;185(1):228-233. (PMID: 33103328) Genes (Basel). 2021 Jun 10;12(6):. (PMID: 34200686) BMC Med Genet. 2018 Mar 20;19(1):47. (PMID: 29558889) Proc Natl Acad Sci U S A. 2009 May 19;106(20):8157-62. (PMID: 19420222) Exp Mol Med. 2018 Jul 27;50(7):1-8. (PMID: 30054456) PLoS One. 2014 Jul 30;9(7):e103727. (PMID: 25075858) J Biol Chem. 2014 Feb 7;289(6):3652-65. (PMID: 24338013) Mol Cell Proteomics. 2014 Aug;13(8):2031-41. (PMID: 24408909) Epilepsy Behav. 2009 Nov;16(3):431-5. (PMID: 19767243) Neurosciences (Riyadh). 2021 Apr;26(2):186-191. (PMID: 33814372) Continuum (Minneap Minn). 2019 Apr;25(2):306-321. (PMID: 30921011) Biosci Rep. 2015 Aug 06;35(5):. (PMID: 26251455) Genes (Basel). 2022 Mar 18;13(3):. (PMID: 35328089) Pediatr Neurol. 2017 Nov;76:82-85. (PMID: 28967461) Seizure. 2018 Aug;60:120-122. (PMID: 29957440) PLoS Biol. 2009 Nov;7(11):e1000236. (PMID: 19885390) PLoS Genet. 2013;9(9):e1003805. (PMID: 24068969) Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. (PMID: 28990276) Exp Mol Med. 2018 Jul 27;50(7):1-8. (PMID: 30054487) BMC Med Genet. 2020 Jul 22;21(1):153. (PMID: 32698785) Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):. (PMID: 33335012) Eur Rev Med Pharmacol Sci. 2020 Nov;24(22):11553-11560. (PMID: 33275221) Epilepsia. 2014 Jan;55(1):123-32. (PMID: 24313635) Mol Cell Proteomics. 2012 Jun;11(6):M111.015131. (PMID: 22223895) Neurosciences (Riyadh). 2017 Jan;22(1):14-19. (PMID: 28064325) Eur J Hum Genet. 2015 May;23(5):602-9. (PMID: 25099252) Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. (PMID: 31127942) J Med Genet. 2014 Mar;51(3):185-96. (PMID: 24431331) Exp Mol Med. 2018 Jul 27;50(7):1-10. (PMID: 30054457) Eur J Hum Genet. 2018 Sep;26(9):1294-1305. (PMID: 29748569) Eur J Hum Genet. 2023 Dec;31(12):1430-1439. (PMID: 37673932) Am J Hum Genet. 2018 May 3;102(5):985-994. (PMID: 29656860) Cochrane Database Syst Rev. 2012 Dec 12;12:CD005495. (PMID: 23235624) Pediatrics. 2004 Sep;114(3):645-50. (PMID: 15342834) Nat Struct Mol Biol. 2013 Sep;20(9):1098-105. (PMID: 23912279) J Autism Dev Disord. 2009 Jul;39(7):1066-78. (PMID: 19234777) Pediatrics. 2020 Apr;145(Suppl 1):S117-S125. (PMID: 32238538) Int Rev Cell Mol Biol. 2015;316:267-305. (PMID: 25805127) Pharmacogenomics. 2011 Nov;12(11):1519-23. (PMID: 22044413) Am J Hum Genet. 2011 Jul 15;89(1):28-43. (PMID: 21700266) Gene. 2015 Aug 10;567(2):103-31. (PMID: 25987439) |
معلومات مُعتمدة: | R35 GM133408 United States GM NIGMS NIH HHS; R35-GM-133408 United States GM NIGMS NIH HHS; Office for People With Developmental Disabilities |
فهرسة مساهمة: | Keywords: Intellectual disability; NAA10‐related neurodevelopmental syndrome; Ogden syndrome; Vineland‐3 |
المشرفين على المادة: | EC 2.3.1.258 (N-Terminal Acetyltransferase E) EC 2.3.1.254 (N-Terminal Acetyltransferase A) |
تواريخ الأحداث: | Date Created: 20240515 Date Completed: 20240809 Latest Revision: 20240813 |
رمز التحديث: | 20240813 |
مُعرف محوري في PubMed: | PMC11315639 |
DOI: | 10.1002/ajmg.a.63651 |
PMID: | 38747166 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1552-4833 |
---|---|
DOI: | 10.1002/ajmg.a.63651 |