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

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.

Beyond IQ: Executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome

“…While this is the first description of executive function in 3q29del, deficits in executive function in this population are not without precedent. Genomic disorders with phenotypic similarities to 3q29del, including 22q11.2 deletion syndrome (Albert et al, 2018;Everaert et al, 2023;Gur et al, 2023;O'Hora et al, 2023), have documented evidence of significant executive function deficits. There is a large body of literature surrounding executive function abilities in 22q11.2 deletion syndrome specifically; executive function deficits in this population have been identified across the lifespan, from preschool-aged children to adults (Albert et al, 2018;Everaert et al, 2023;Gur et al, 2023;O'Hora et al, 2023).…”

“…Genomic disorders with phenotypic similarities to 3q29del, including 22q11.2 deletion syndrome (Albert et al, 2018;Everaert et al, 2023;Gur et al, 2023;O'Hora et al, 2023), have documented evidence of significant executive function deficits. There is a large body of literature surrounding executive function abilities in 22q11.2 deletion syndrome specifically; executive function deficits in this population have been identified across the lifespan, from preschool-aged children to adults (Albert et al, 2018;Everaert et al, 2023;Gur et al, 2023;O'Hora et al, 2023). Worsening executive function is associated with psychosis spectrum symptoms in children with 22q11.2 deletion syndrome (Gur et al, 2023), and measures of childhood executive function can predict young adult outcomes in this population, including symptoms of psychosis (Albert et al, 2018).…”

“…Executive function deficits can have an adverse impact on academic and occupational achievement, mood regulation, and social function (Baggetta & Alexander, 2016;Best & Miller, 2010;Miller & Wallis, 2009). Studies have identified executive function deficits in individuals with ADHD (Biederman et al, 2004;Brown, 2009;Marije Boonstra, Oosterlaan, Sergeant, & Buitelaar, 2005;Martel, Nikolas, & Nigg, 2007) and SZ (Kraepelin, 1913;Lysaker et al, 2008;Orellana & Slachevsky, 2013;Pickup, 2008;Velligan & Bow-Thomas, 1999;Wobrock et al, 2009), as well as genomic disorders with phenotypic similarities to 3q29del, including 22q11.2 deletion syndrome (Albert, Abu-Ramadan, Kates, Fremont, & Antshel, 2018;Everaert et al, 2023;Gur et al, 2023;O'Hora et al, 2023). Notably, executive function ability has been shown to associate with later-onset phenotypes in children with 22q11.2 deletion syndrome (Albert et al, 2018), highlighting the importance of understanding executive function and its links to neurodevelopmental and psychiatric phenotypes, as well as its potential as an early treatment target with promising benefits for both childhood and adult outcomes.…”

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

“…Neuropsychological findings include deficits in a wide range of cognitive functions, such as attention, executive functioning, and visuospatial processing [11,17,[19][20][21][22][23]. Correlates of cognitive and intellectual deficits have been attributed to volumetric alterations in patients with 22q11.2DS [24][25][26][27], as well as to the emergence of psychotic symptoms [18,28,29].…”