Abstract
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.
Highlights
Executive functions (EF) can be described as interrelated high-level cognitive processes that play a leading role in formulating goals, planning how to achieve them, and carrying them out successfully [1, 2]
We proposed three main hypotheses: first, we hypothesized that individuals with 22q11.2DS would perform less well than the control group on all executive domains and that the developmental trajectory of the 22q11.2DS group would be different from the control group across all domains
We examined the developmental trajectory of a “pure” measure of lexical level, namely the French version of the Peabody Picture Vocabulary Test (PPVT) [38]
Summary
Executive functions (EF) can be described as interrelated high-level cognitive processes that play a leading role in formulating goals, planning how to achieve them, and carrying them out successfully [1, 2]. A large proportion of affected individuals exhibit early onset psychosis [10], and 22q11.2DS is associated with increased risk for developing schizophrenia during adulthood [11]. This makes 22q11.2DS the best homogeneous human model for studying early risk factors and interventions for psychosis [12]. Variability in the cognitive profile can be observed between individuals, as well as within individuals over the years (Philip and Bassett [9]). For this reason, it appears necessary to study 22q11.2DS using a developmental approach
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