Learning from atypical development: A systematic review of executive functioning in children and adolescents with the 22q11.2 deletion syndrome

Everaert, Emma; Boerma, Tessel; Selten, Iris; Vorstman, Jacob; Wijnen, Frank

doi:10.1016/j.dr.2021.100962

Cited by 2 publications

(3 citation statements)

References 190 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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).…”

Section: Discussionmentioning

confidence: 99%

“…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).…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Pollak,

Sefik,

Aberizk

et al. 2024

Preprint

View full text Add to dashboard Cite

Background3q29 deletion syndrome (3q29del) is a rare (∼1:30,000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function deficits in 47% of individuals with 3q29del; however, the nuances of executive function in this population have not been described.MethodsWe used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world executive functioning in a cohort of 32 individuals with 3q29del (62.50% male, mean age=14.50±8.26 years). High-resolution structural magnetic resonance imaging was performed on a subset of participants (n=24).ResultsWe found global deficits in executive function; individuals with 3q29del scored significantly higher than the population mean on the BRIEF Global Executive Composite (GEC) and all subscales. 81.25% of study subjects (n=26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were significantly higher among 3q29del participants with a diagnosis of ADHD, and BRIEF GEC T scores were significantly associated with schizophrenia spectrum symptoms as measured by the SIPS. The BRIEF-2 ADHD Form accurately (sensitivity=86.70%) classified individuals with 3q29del based on ADHD diagnosis status, highlighting its potential use as a screener for ADHD in this population. BRIEF GEC T scores were significantly correlated with cerebellar white matter and subregional cerebellar cortex volumes.ConclusionsTogether, these data expand our understanding of the phenotypic spectrum of 3q29del and identify executive function as a core feature linked to both psychiatric and neuroanatomical features of the syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Pollak,

Sefik,

Aberizk

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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

Everaert

Vorstman

Selten

et al. 2023

J Neurodevelop Disord

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Learning from atypical development: A systematic review of executive functioning in children and adolescents with the 22q11.2 deletion syndrome

Cited by 2 publications

References 190 publications

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

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

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

Contact Info

Product

Resources

About