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

Maeder, Johanna; Schneider, Maude; Bostelmann, Mathilde; Debbané, Martin; Glaser, Bronwyn; Menghetti, Sarah; Schaer, Marie; Eliez, Stéphan

doi:10.1186/s11689-016-9141-1

Cited by 63 publications

(84 citation statements)

References 50 publications

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“…A more innovative finding, however, is that childhood EF was predictive of several key outcome variables in young adults with 22q11DS, including parent report of adaptive behavior, positive symptoms of psychosis, emotional intelligence, and self-reported social adjustment and externalizing problems. While previous literature suggests that 22q11DS is associated with the functional impairments and psychopathology examined in the present study (Maeder et al, 2016), our study is the first to examine whether childhood EF predicts young adult functioning in individuals with 22q11DS. The findings of the present study suggest that EF may be a worthwhile target for intervention among children with 22q11DS, in order to reduce the likelihood that these children will go on to develop negative outcomes in young adulthood.…”

Section: Discussionmentioning

confidence: 74%

“…EF is an umbrella term that encompasses various cognitive domains, including cognitive flexibility, planning, self-regulation, and working memory (Anderson, 2002; Harms, Zayas, Meltzoff, & Carlson, 2014). EF abilities develop in a progressive fashion, emerging in early childhood and developing into adulthood (Bunge & Zelazo, 2006; Maeder et al, 2016). Childhood EF abilities predict adolescent and adult academic and occupational functioning in individuals with and without ADHD (Miller, Nevado-Montenegro, & Hinshaw, 2012).…”

Section: Executive Functioning In 22q11dsmentioning

confidence: 99%

“…Inhibition (Shapiro et al, 2014), working memory (Maeder et al, 2016) and cognitive flexibility (Antshel et al, 2010) deficits have been reported in the 22q11DS population. Most of the literature reports lower performance in all EF domains for individuals with 22q11DS when compared to the typically developing population (Antshel et al, 2008).…”

Section: Executive Functioning In 22q11dsmentioning

confidence: 99%

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Childhood Executive Functioning Predicts Young Adult Outcomes in22q11.2Deletion Syndrome

Albert

Abu-Ramadan

Kates

et al. 2018

J Int Neuropsychol Soc

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Objective. While individuals with 22q11.2 deletion syndrome (22q11DS) are at increased risk for a variety of functional impairments and psychiatric disorders, including psychosis, not all individuals with 22q11DS experience negative outcomes. Efforts to further understand which childhood variables best predict adult functional outcomes are needed, especially those that investigate childhood executive functioning abilities. Methods. This longitudinal study followed 63 individuals with 22q11DS and 43 control participants over 9 years. Childhood executive functioning ability was assessed using both rater-based and performance-based measures and tested as predictors of young adult outcomes. Results. Childhood global executive functioning abilities and parent report of child executive function abilities were the most consistent predictors of young adult outcomes. Study group moderated the relationship between child executive functioning and young adult outcomes for several outcomes such that the relationships were stronger in the 22q11DS sample. Conclusion. Rater-based and performance-based measures of childhood executive functioning abilities predicted young adult outcomes in individuals with and without 22q11DS. Executive functioning could be a valuable target for treatment in children with 22q11DS for improving not only childhood functioning but also adult outcomes.

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Section: Discussionmentioning

confidence: 74%

Section: Executive Functioning In 22q11dsmentioning

confidence: 99%

Section: Executive Functioning In 22q11dsmentioning

confidence: 99%

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Childhood Executive Functioning Predicts Young Adult Outcomes in22q11.2Deletion Syndrome

Albert

Abu-Ramadan

Kates

et al. 2018

J Int Neuropsychol Soc

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“…The cross-sectional sample of patients with 22q11DS included in the analysis was collected in the context of a longitudinal study started in 2002 (Maeder et al, 2016;Schaer et al, 2009). Information regarding the selection of patients for this study, along with their demographic details, is reported in the Supplementary material.…”

Section: Participantsmentioning

confidence: 99%

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Mihailov

Padula

Scariati

et al. 2017

Schizophrenia Research

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Approximately 30% of individuals with 22q11.2 Deletion Syndrome (22q11DS) develop schizophrenia during adolescence/early adulthood, making this syndrome a model for the disorder. Furthermore, negative symptoms exist in up to 80% of patients diagnosed with 22q11DS. The present study aims to uncover morphological brain alterations associated with negative symptoms in a cohort of patients with 22q11DS who are at-risk for developing schizophrenia. A total of 71 patients with 22q11DS aged 12 to 35 (54% females) with no past or present diagnosis of a schizophrenia were included in the study. Psychotic symptom scores were used to divide patients into subgroups by means of a cluster analysis. Three major subgroups were evident: patients with low negative and positive symptoms; patients with high negative symptoms and low positive symptoms; and patients with high negative and positive symptoms. Cortical volume, thickness and gyrification were compared between subgroups using FreeSurfer software. Results showed that patients with high negative symptoms, compared to those with low negative symptoms, have decreased gyrification in the medial occipito-temporal (MOT) and lateral temporo-parietal (LTP) cortices of the left hemisphere, and in the medial temporal (MT)/posterior cingulate (PCC) cortices of the right hemisphere. These findings suggest that high negative symptoms are associated with gyrification reductions predominantly in medial occipital and temporal regions, which are areas implicated in social cognition and early visual processing. Furthermore, as cortical folding develops in utero and during the first years of life, reduced gyrification may represent an early biomarker predicting the development of negative symptoms.

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“…In particular, borderline IQ levels, altered visuo‐spatial processing and impaired social cognition are part of the 22q11DS cognitive phenotype [Antshel et al, ; Campbell et al, ; Niklasson and Gillberg, ]. Executive dysfunctions have also been reported in patients with 22q11DS [Azuma et al, ; Campbell et al, ; Chow et al, ; Lewandowski et al, ; Maeder et al, ; McCabe et al, ; Shapiro et al, ]. Specifically, impaired inhibition [McCabe et al, ; Shapiro et al, ] and working memory [Azuma et al, ] have been shown in these patients.…”

Section: Introductionmentioning

confidence: 99%

Multimodal investigation of triple network connectivity in patients with 22q11DS and association with executive functions

Padula

Schaer

Scariati

et al. 2017

Human Brain Mapping

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Large-scale brain networks play a prominent role in cognitive abilities and their activity is impaired in psychiatric disorders, such as schizophrenia. Patients with 22q11.2 deletion syndrome (22q11DS) are at high risk of developing schizophrenia and present similar cognitive impairments, including executive functions deficits. Thus, 22q11DS represents a model for the study of neural biomarkers associated with schizophrenia. In this study, we investigated structural and functional connectivity within and between the Default Mode (DMN), the Central Executive (CEN), and the Saliency network (SN) in 22q11DS using resting-state fMRI and DTI. Furthermore, we investigated if triple network impairments were related to executive dysfunctions or the presence of psychotic symptoms. Sixty-three patients with 22q11DS and sixty-eighty controls (age 6-33 years) were included in the study. Structural connectivity between main nodes of DMN, CEN, and SN was computed using probabilistic tractography. Functional connectivity was computed as the partial correlation between the time courses extracted from each node. Structural and functional connectivity measures were then correlated to executive functions and psychotic symptom scores. Our results showed mainly reduced structural connectivity within the CEN, DMN, and SN, in patients with 22q11DS compared with controls as well as reduced between-network connectivity. Functional connectivity appeared to be more preserved, with impairments being evident only within the DMN. Structural connectivity impairments were also related to executive dysfunctions. These findings show an association between triple network structural alterations and executive deficits in patients with the microdeletion, suggesting that 22q11DS and schizophrenia share common psychopathological mechanisms. Hum Brain Mapp 38:2177-2189, 2017. © 2017 Wiley Periodicals, Inc.

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

Cited by 63 publications

References 50 publications

Childhood Executive Functioning Predicts Young Adult Outcomes in22q11.2Deletion Syndrome

Childhood Executive Functioning Predicts Young Adult Outcomes in22q11.2Deletion Syndrome

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Multimodal investigation of triple network connectivity in patients with 22q11DS and association with executive functions

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