Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.
22q11.2 deletion syndrome
22q11DS
Congenital heart defect
DiGeorge syndrome
Executive functioning
Selective attention
Velocardiofacial syndrome
Working memory
Journal
Journal of neurodevelopmental disorders
ISSN: 1866-1955
Titre abrégé: J Neurodev Disord
Pays: England
ID NLM: 101483832
Informations de publication
Date de publication:
13 05 2023
13 05 2023
Historique:
received:
25
10
2022
accepted:
28
04
2023
medline:
15
5
2023
pubmed:
13
5
2023
entrez:
12
5
2023
Statut:
epublish
Résumé
Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy.
Sections du résumé
BACKGROUND
Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin.
METHODS
All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records.
RESULTS
Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs.
CONCLUSION
To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy.
Identifiants
pubmed: 37173621
doi: 10.1186/s11689-023-09484-y
pii: 10.1186/s11689-023-09484-y
pmc: PMC10181926
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
15Informations de copyright
© 2023. The Author(s).
Références
PLoS One. 2020 Sep 11;15(9):e0239040
pubmed: 32915911
Am J Speech Lang Pathol. 2023 Jan 11;32(1):128-144
pubmed: 36512754
Autism Res. 2017 May;10(5):911-939
pubmed: 27874266
Child Neuropsychol. 2009 Nov;15(6):532-42
pubmed: 19280375
J Neural Transm (Vienna). 2018 Jul;125(7):1043-1052
pubmed: 29520614
Behav Genet. 2018 Jul;48(4):259-270
pubmed: 29922984
Psychiatry Res. 2009 Apr 30;166(2-3):210-22
pubmed: 19285351
J Neurodev Disord. 2009 Mar;1(1):46-60
pubmed: 21547621
J Endocrinol Invest. 2021 May;44(5):905-919
pubmed: 32926396
Front Psychol. 2015 Mar 26;6:328
pubmed: 25859234
Am J Med Genet B Neuropsychiatr Genet. 2014 Mar;165B(2):137-47
pubmed: 24265253
Nat Genet. 2017 Jan;49(1):27-35
pubmed: 27869829
Eur J Med Genet. 2014 Mar;57(4):157-62
pubmed: 24576609
Nat Rev Dis Primers. 2015 Nov 19;1:15071
pubmed: 27189754
Am J Med Genet A. 2018 Oct;176(10):2087-2098
pubmed: 29663641
Child Dev. 2010 Nov-Dec;81(6):1641-60
pubmed: 21077853
Res Dev Disabil. 2010 Jan-Feb;31(1):185-94
pubmed: 19815377
Neuroimage. 2019 Jan 15;185:776-782
pubmed: 29787864
Genet Med. 2014 Jan;16(1):40-4
pubmed: 23765047
Genet Couns. 1999;10(1):11-24
pubmed: 10191425
Genet Couns. 2008;19(1):71-94
pubmed: 18564504
Science. 1992 Jan 31;255(5044):556-9
pubmed: 1736359
Am J Med Genet A. 2018 Oct;176(10):2172-2181
pubmed: 30289625
J Commun Disord. 2018 Sep - Oct;75:37-56
pubmed: 30005318
J Pediatr. 2019 Dec;215:75-82.e2
pubmed: 31451185
Neuropsychol Rev. 2007 Sep;17(3):213-33
pubmed: 17786559
Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999
pubmed: 31330115
J Neurodev Disord. 2010 Dec;2(4):224-234
pubmed: 21125003
Arch Gen Psychiatry. 2005 Mar;62(3):254-62
pubmed: 15753238
J Autism Dev Disord. 2017 Apr;47(4):992-1005
pubmed: 28083777
J Int Neuropsychol Soc. 2018 Oct;24(9):905-916
pubmed: 30375321
Neuropsychologia. 2007 Sep 20;45(12):2863-73
pubmed: 17618656
Res Dev Disabil. 2012 Sep-Oct;33(5):1495-502
pubmed: 22522207
Annu Rev Psychol. 2013;64:135-68
pubmed: 23020641
Br J Psychiatry. 2012 Jun;200(6):462-8
pubmed: 22661678
Am J Intellect Dev Disabil. 2014 Mar;119(2):115-32
pubmed: 24679349
J Thorac Cardiovasc Surg. 2007 Sep;134(3):772-9
pubmed: 17723832
Psychiatry Res. 2017 Jul;253:99-106
pubmed: 28364592
Appl Neuropsychol. 2000;7(4):252-8
pubmed: 11296689
Dev Rev. 2009 Sep 1;29(3):180-200
pubmed: 20161467
Dev Sci. 2017 Nov;20(6):
pubmed: 27748007
Psychol Trauma. 2021 Feb;13(2):206-213
pubmed: 32940523
J Child Neurol. 2017 Jan;32(1):94-99
pubmed: 27702912
Dev Neuropsychol. 2005;28(2):595-616
pubmed: 16144429
Front Psychol. 2014 Jun 17;5:599
pubmed: 25071619
J Med Genet. 1997 Oct;34(10):798-804
pubmed: 9350810
J Exp Child Psychol. 2011 Mar;108(3):436-52
pubmed: 20884004
J Exp Child Psychol. 2008 Jun;100(2):89-114
pubmed: 18249410
J Child Psychol Psychiatry. 2016 Apr;57(4):462-71
pubmed: 26411927
Am J Med Genet. 1999 Jul 16;85(2):127-33
pubmed: 10406665
CMAJ Open. 2021 Aug 17;9(3):E802-E809
pubmed: 34404688
Can J Cardiol. 2017 Dec;33(12):1543-1555
pubmed: 29173597
Brain Cogn. 1998 Dec;38(3):317-38
pubmed: 9841789
Front Psychol. 2015 Apr 30;6:525
pubmed: 25983706
Dev Psychol. 2008 Mar;44(2):575-87
pubmed: 18331145
Am J Med Genet A. 2018 Oct;176(10):2167-2171
pubmed: 30380188
Assessment. 2008 Dec;15(4):426-34
pubmed: 18483192
Cogn Psychol. 2000 Aug;41(1):49-100
pubmed: 10945922
Am J Med Genet A. 2018 Oct;176(10):2182-2191
pubmed: 30194907
Psychol Med. 2019 Apr;49(6):1047-1054
pubmed: 30064532
J Pediatr. 2014 May;164(5):962-5
pubmed: 24529617
Arch Dis Child. 2003 Jan;88(1):61-4
pubmed: 12495965
Hum Mol Genet. 2004 Feb 15;13(4):417-28
pubmed: 14681306
Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):12138-43
pubmed: 23818591
Circ Res. 2017 Mar 17;120(6):960-977
pubmed: 28302742
J Neurosci. 2013 Oct 9;33(41):16249-61
pubmed: 24107956
J Abnorm Psychol. 2001 Feb;110(1):40-8
pubmed: 11261398
Ann N Y Acad Sci. 2010 Jan;1184:68-86
pubmed: 20146691
Nat Rev Cardiol. 2022 Jan;19(1):26-42
pubmed: 34272501
Br J Psychiatry. 2017 Oct;211(4):223-230
pubmed: 28882829
Hum Brain Mapp. 2016 Dec;37(12):4689-4705
pubmed: 27511297
BMC Med Res Methodol. 2013 Jul 16;13:92
pubmed: 23855337
Annu Rev Clin Psychol. 2020 May 7;16:431-454
pubmed: 32075434
Congenit Heart Dis. 2016 Jan-Feb;11(1):26-33
pubmed: 26914309
J Neurodev Disord. 2016 Aug 17;8:30
pubmed: 27536336
Biol Psychiatry. 2015 Dec 1;78(11):786-93
pubmed: 25863361
Child Neuropsychol. 2018 Jan;24(1):1-19
pubmed: 27608887
Psychol Bull. 2021 Apr;147(4):329-351
pubmed: 34166004
Expert Rev Neurother. 2022 Jan;22(1):77-84
pubmed: 34821185
Open Heart. 2015 Oct 29;2(1):e000255
pubmed: 26568832
Images Paediatr Cardiol. 2005 Apr;7(2):23-34
pubmed: 22368650
Res Dev Disabil. 2012 Mar-Apr;33(2):334-40
pubmed: 22119678
Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14931-6
pubmed: 16192352
Psychol Bull. 2008 Jan;134(1):31-60
pubmed: 18193994
Pediatr Crit Care Med. 2016 Aug;17(8 Suppl 1):S232-42
pubmed: 27490605
J Intellect Disabil Res. 2014 Jan;58(1):31-47
pubmed: 23742203
Sci Am. 1998 Sep;279(3):66-71
pubmed: 9725940
Neuropsychol Rev. 2006 Mar;16(1):17-42
pubmed: 16794878
Front Psychol. 2014 Jul 22;5:733
pubmed: 25101015
Front Psychol. 2014 Jun 10;5:566
pubmed: 24959159
J Int Neuropsychol Soc. 2022 Apr;28(4):337-350
pubmed: 33952381
J Pediatr. 2002 Jun;140(6):753-8
pubmed: 12072882
Transl Psychiatry. 2020 Feb 3;10(1):53
pubmed: 32066691
Schizophr Bull. 2007 May;33(3):761-71
pubmed: 17412711
Neuropsychologia. 2006;44(11):2017-36
pubmed: 16527316
Res Dev Disabil. 2016 Jun-Jul;53-54:242-57
pubmed: 26942704
Am J Psychiatry. 2000 Sep;157(9):1416-22
pubmed: 10964857
J Intellect Disabil Res. 2017 May;61(5):501-511
pubmed: 28276184
Pediatrics. 2017 Jul;140(1):
pubmed: 28607205
Am J Hum Genet. 1995 Jun;56(6):1391-403
pubmed: 7762562
Mov Disord. 2006 Dec;21(12):2082-9
pubmed: 16991148
J Intellect Disabil Res. 2015 Sep;59(9):845-59
pubmed: 25726953
J Neurodev Disord. 2016 Mar 25;8:10
pubmed: 27018204
Dev Sci. 2020 Jul;23(4):e12866
pubmed: 31132209
Mol Psychiatry. 2005 Jun;10(6):553-62
pubmed: 15520831
Br J Psychiatry. 2018 Jan;212(1):27-33
pubmed: 29433607
J Psychiatr Res. 2013 Jan;47(1):91-104
pubmed: 23122645
Dev Sci. 2018 Mar;21(2):
pubmed: 28557154
J Child Psychol Psychiatry. 2014 Apr;55(4):374-83
pubmed: 24256459
Schizophr Bull. 2017 Jul 1;43(4):833-842
pubmed: 27798222
Cortex. 2014 Aug;57:128-42
pubmed: 24845162
J Neurodev Disord. 2012 Apr 12;4(1):6
pubmed: 22958454
Am J Med Genet A. 2011 Nov;155A(11):2688-91
pubmed: 21932314
Arch Gen Psychiatry. 2012 Jun;69(6):562-71
pubmed: 22664547
J Int Neuropsychol Soc. 2009 May;15(3):331-43
pubmed: 19402919
Neuropsychologia. 2011 May;49(6):1410-24
pubmed: 21184764
Brain Cogn. 2006 Jun;61(1):25-39
pubmed: 16682102
Dev Rev. 2019 Jun;52:42-62
pubmed: 31417205
Dev Neuropsychol. 2010;35(1):20-36
pubmed: 20390590
J Clin Exp Neuropsychol. 2006 Aug;28(6):1043-52
pubmed: 16822742
Dev Psychol. 2009 May;45(3):605-19
pubmed: 19413419
Psychol Assess. 2012 Jun;24(2):418-31
pubmed: 22023561
J Genet Couns. 2010 Oct;19(5):535-44
pubmed: 20680421
Cortex. 2017 Jan;86:186-204
pubmed: 27251123
Biol Psychiatry. 2005 Jul 1;58(1):23-31
pubmed: 15935994
Br Med Bull. 1971 Sep;27(3):272-7
pubmed: 4937273
Hum Genet. 2016 Mar;135(3):273-85
pubmed: 26742502
Eur Child Adolesc Psychiatry. 2020 Mar;29(3):299-313
pubmed: 31123832
Am J Hum Genet. 1999 Apr;64(4):1076-86
pubmed: 10090893
Dev Med Child Neurol. 2005 Dec;47(12):797-802
pubmed: 16288668
Science. 2015 Dec 4;350(6265):1262-6
pubmed: 26785492