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

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

Emma Everaert  1   2 , Jacob A S Vorstman  3   4 , Iris S Selten  5   6 , Martijn G Slieker  7 , Frank Wijnen  5 , Tessel D Boerma #  5   6 , Michiel L Houben #  6
Affiliations

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

Emma Everaert et al. J Neurodev Disord. .

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.

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Conflict of interest statement

Jacob Vorstman has served as a consultant for NoBias Therapeutics. The other authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Simplified schematic illustration of EF structure according to the models of [15, 27]
Fig. 2
Fig. 2
Schematic illustration of the potential causal pathways between CHD and EF deficits
Fig. 3
Fig. 3
Search display 1 of the SA task [106]
Fig. 4
Fig. 4
Corsi block task as seen from the perspective of the experimenter. Numbers on the blocks were not visible to the participant. Figure adapted from [114]
Fig. 5
Fig. 5
SA task for the children with 22q11DS (n = 42) and the TD children (n = 81); line chart of the mean number of hits per display for each group. Errors bars indicate 95% CI
See this image and copyright information in PMC

References

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