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Journal of Neurodevelopmental Disorders
Published in: Journal of Neurodevelopmental Disorders 1/2016

Open Access 01-12-2016 | Research

Developmental trajectories of executive functions in 22q11.2 deletion syndrome

Authors: Johanna Maeder, Maude Schneider, Mathilde Bostelmann, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Marie Schaer, Stephan Eliez

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2016

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Abstract

Background

22q11.2 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.

Methods

The 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.

Results

We 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.

Conclusions

The 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.
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Metadata
Title
Developmental trajectories of executive functions in 22q11.2 deletion syndrome
Authors
Johanna Maeder
Maude Schneider
Mathilde Bostelmann
Martin Debbané
Bronwyn Glaser
Sarah Menghetti
Marie Schaer
Stephan Eliez
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Journal of Neurodevelopmental Disorders / Issue 1/2016
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI
https://doi.org/10.1186/s11689-016-9141-1

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