TY - JOUR
T1 - Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
AU - Everaert, Emma
AU - Vorstman, Jacob A.S.
AU - Selten, Iris S.
AU - Slieker, Martijn G.
AU - Wijnen, Frank
AU - Boerma, Tessel D.
AU - Houben, Michiel L.
N1 - Funding Information:
This work was supported by the Netherlands Organization for Scientific Research (NWO) [project number 360–89-080]. NWO was not involved in the design, data collection and analysis, interpretation of the data, nor in the writing of the manuscript.
Publisher Copyright:
© 2023, The Author(s).
PY - 2023/5/13
Y1 - 2023/5/13
N2 - 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.
AB - 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.
KW - 22q11.2 deletion syndrome
KW - 22q11DS
KW - Congenital heart defect
KW - DiGeorge syndrome
KW - Executive functioning
KW - Selective attention
KW - Velocardiofacial syndrome
KW - Working memory
UR - http://www.scopus.com/inward/record.url?scp=85159740897&partnerID=8YFLogxK
U2 - 10.1186/s11689-023-09484-y
DO - 10.1186/s11689-023-09484-y
M3 - Article
C2 - 37173621
AN - SCOPUS:85159740897
SN - 1866-1947
VL - 15
SP - 15
JO - Journal of neurodevelopmental disorders
JF - Journal of neurodevelopmental disorders
IS - 1
M1 - 15
ER -