Developmental trajectories of executive functions in 22q11.2 deletion syndromeReport as inadecuate

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Journal of Neurodevelopmental Disorders

, 8:10

First Online: 25 March 2016Received: 14 August 2015Accepted: 08 March 2016


Background22q11.2 deletion syndrome 22q11.2DS is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions EF are reported as a relative weakness in this population. The present study aimed to delineate the developmental trajectories of multiple EF domains in a longitudinal sample using a broader age range than previous studies. Given the high incidence of psychotic symptoms in 22q11.2DS, we also compared the development of EF in participants with-without comorbid psychotic symptoms. Given the importance of EF in daily life, the third aim of the study was to characterize the link between EF and adaptive functioning.

MethodsThe sample consisted of 95 individuals with 22q11.2DS and 100 typically developing controls aged 6–26 years. A large proportion of the sample 55.38 % had multiple time points available. Between-group differences in the developmental trajectories of three subdomains of EF verbal fluency, working memory, and inhibition were examined using mixed models regression analyses. Analyses were repeated comparing only the 22q11.2DS group based on the presence-absence of psychotic symptoms to investigate the influence of executive dysfunction on the emergence of psychotic symptoms. Hierarchical stepwise regression analyses were also conducted to investigate the predictive value of EF on adaptive functioning.

ResultsWe observed lower performance on EF domains, as well as atypical development of working memory and verbal fluency. Participants who presented with negative symptoms exhibited different developmental trajectories of inhibition and working memory. Adaptive functioning level was not significantly predicted by EF scores.

ConclusionsThe present study highlighted domain-specific atypical trajectories of EF in individuals with 22q11.DS and explored the link with psychotic symptoms. However, no relation between EF and adaptive functioning was observed.

Keywords22q11.2 deletion syndrome Executive functions Development Adaptive functioning Abbreviations22q11.2DS22q11.2 deletion syndrome

BICBayesian information criterion

CPTContinuous Performance Test

DICA-RDiagnostic Interview for Children and Adolescents-Revised

EFexecutive functions

IQintelligence quotient

PANSSPositive and Negative Syndrome Scale

QF-PCRquantitative fluorescent polymerase chain reaction

SCID-IStructured Clinical Interview for DSM-IV Axis I

VABSVineland Adaptive Behavior Scales

WAIS-IIIWechsler Adult Intelligence Scale, third version

WISC-IIIWechsler Intelligence Scale for Children, third version

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Author: Johanna Maeder - Maude Schneider - Mathilde Bostelmann - Martin Debbané - Bronwyn Glaser - Sarah Menghetti - Marie Schaer


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