Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects

Emma Everaert; Jacob A S Vorstman; Iris S Selten; Martijn G Slieker; Frank Wijnen; Tessel D Boerma; Michiel L Houben

doi:10.1186/s11689-023-09484-y

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects

J Neurodev Disord. 2023 May 13;15(1):15. doi: 10.1186/s11689-023-09484-y.

Authors

Emma Everaert^{1

2}, Jacob A S Vorstman^{3

4}, Iris S Selten^{5

6}, Martijn G Slieker⁷, Frank Wijnen⁵, Tessel D Boerma^#^{5

6}, Michiel L Houben^#⁶

Affiliations

¹ Institute for Language Sciences, Utrecht University, Trans 10, 3512 JK, Utrecht, The Netherlands. e.everaert@uu.nl.
² Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands. e.everaert@uu.nl.
³ Program in Genetics and Genome Biology, Research Institute, and Department of Psychiatry, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada.
⁴ Department of Psychiatry, University of Toronto, 250 College Street, Toronto, ON, M5T 1R8, Canada.
⁵ Institute for Language Sciences, Utrecht University, Trans 10, 3512 JK, Utrecht, The Netherlands.
⁶ Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
⁷ Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, The Netherlands.

^# Contributed equally.

Abstract

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.

Keywords: 22q11.2 deletion syndrome; 22q11DS; Congenital heart defect; DiGeorge syndrome; Executive functioning; Selective attention; Velocardiofacial syndrome; Working memory.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Attention
Child
Child, Preschool
Cognition
DiGeorge Syndrome* / complications
Executive Function
Humans
Prospective Studies