Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
DYRK1A
autism phenotypes
genetics
intellectual disability
Journal
Autism research : official journal of the International Society for Autism Research
ISSN: 1939-3806
Titre abrégé: Autism Res
Pays: United States
ID NLM: 101461858
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
08
02
2023
accepted:
12
07
2023
pmc-release:
01
08
2024
medline:
24
8
2023
pubmed:
27
7
2023
entrez:
27
7
2023
Statut:
ppublish
Résumé
Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n = 29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n = 14) or average or above nonverbal IQ (n = 41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits.
Identifiants
pubmed: 37497568
doi: 10.1002/aur.2995
pmc: PMC10530559
mid: NIHMS1920543
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1488-1500Subventions
Organisme : NIMH NIH HHS
ID : R01MH100047
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH100047
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIMH NIH HHS
ID : MH101221
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH101221
Pays : United States
Informations de copyright
© 2023 International Society for Autism Research and Wiley Periodicals LLC.
Références
Genes (Basel). 2021 Feb 27;12(3):
pubmed: 33673501
J Autism Dev Disord. 2013 Jun;43(6):1287-97
pubmed: 23065116
Epilepsia. 2021 Jan;62(1):258-268
pubmed: 33236786
J Neurodev Disord. 2021 Jun 21;13(1):24
pubmed: 34148555
Am J Med Genet A. 2022 Jul;188(7):1954-1963
pubmed: 35285131
Clin Genet. 2011 Mar;79(3):296-9
pubmed: 21294719
Mol Psychiatry. 2018 Apr;23(4):993-1000
pubmed: 28533516
Eur J Hum Genet. 2015 Nov;23(11):1482-7
pubmed: 25920557
J Dev Behav Pediatr. 2000 Feb;21(1):2-11
pubmed: 10706343
Eur J Hum Genet. 2022 Jul;30(7):800-811
pubmed: 35437318
J Autism Dev Disord. 2023 Apr 8;:
pubmed: 37031308
Mol Psychiatry. 2014 Jun;19(6):652-8
pubmed: 24776741
Cell Mol Life Sci. 2021 Jan;78(2):603-619
pubmed: 32870330
Neuron. 2010 Oct 21;68(2):192-5
pubmed: 20955926
Dev Psychopathol. 2020 Oct;32(4):1353-1361
pubmed: 32912353
Mol Psychiatry. 2016 Jan;21(1):126-32
pubmed: 25707398
Autism Res. 2020 Aug;13(8):1383-1396
pubmed: 32406614
Orphanet J Rare Dis. 2022 Mar 4;17(1):108
pubmed: 35246185
Mol Autism. 2017 Oct 5;8:54
pubmed: 29034068
Lancet. 2022 Jan 15;399(10321):271-334
pubmed: 34883054
J Autism Dev Disord. 2016 Jul;46(7):2464-79
pubmed: 27062034
J Neurodev Disord. 2010 Dec;2(4):182-209
pubmed: 21124998
Am J Hum Genet. 2020 May 7;106(5):587-595
pubmed: 32359473
J Autism Dev Disord. 2014 Aug;44(8):1996-2012
pubmed: 24590409
Clin Genet. 2022 Oct;102(4):296-304
pubmed: 35821609
Biol Psychiatry. 2020 Jan 15;87(2):123-131
pubmed: 31526516
Sci Rep. 2020 Jun 17;10(1):9849
pubmed: 32555303
J Child Psychol Psychiatry. 2007 Sep;48(9):932-40
pubmed: 17714378
J Autism Dev Disord. 1994 Oct;24(5):659-85
pubmed: 7814313
Nature. 2014 Nov 13;515(7526):216-21
pubmed: 25363768
J Autism Dev Disord. 2000 Jun;30(3):237-43
pubmed: 11055459
Autism Res. 2018 Sep;11(9):1300-1310
pubmed: 30107084
Neuron. 2012 Apr 26;74(2):285-99
pubmed: 22542183
Science. 2012 Dec 21;338(6114):1619-22
pubmed: 23160955
J Mol Neurosci. 2022 Aug;72(8):1531-1546
pubmed: 35920977
Front Psychiatry. 2019 Jul 30;10:526
pubmed: 31417436
J Autism Dev Disord. 2014 Oct;44(10):2400-12
pubmed: 23143131
Mol Autism. 2021 Apr 19;12(1):28
pubmed: 33875018
Biol Open. 2018 Apr 26;7(4):
pubmed: 29700199
Mol Autism. 2017 Sep 29;8:50
pubmed: 29021890