Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome

Dufour, Federico; Schaer, Marie; Debbané, Martin; Farhoumand, Riaz; Glaser, Bronwyn; Eliez, Stéphan

doi:10.1016/j.neuropsychologia.2008.06.012

Cited by 47 publications

(48 citation statements)

References 56 publications

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“…Alterations of the ACC have been consistently identified in 22q11DS with structural (Dufour et al, 2008;Jalbrzikowski et al, 2013;Schaer et al, 2010) and functional MRI (Scariati et al, 2014;Schneider et al, 2012) as well as with electroencephalography (EEG) (Rihs et al, 2012;Tomescu et al, 2014). In our results, the ACC is associated with DMN regions at almost all density thresholds in patients.…”

Section: Reorganization Of Modular Communities In Patients With 22q11dssupporting

confidence: 70%

“…Through its participation in self-monitoring and saliency, the ACC has shown to be associated with psychotic symptoms in 22q11DS (Dufour et al, 2008;Scariati et al, 2014;Schneider et al, 2012;Tomescu et al, 2014) and in the general population (Allen, Laroi, McGuire, & Aleman, 2008;Menon, 2011). Notably, in our previous fMRI study, we showed that this region played an important role in identifying the patients suffering from prodromal psychotic symptoms within a population of patients with 22q11DS (Scariati et al, 2014).…”

Section: Reorganization Of Modular Communities In Patients With 22q11dsmentioning

confidence: 59%

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Large-scale functional network reorganization in 22q11.2 deletion syndrome revealed by modularity analysis

Scariati

Schaer

Karahanoğlu

et al. 2016

Cortex

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The 22q11.2 deletion syndrome (22q11DS) is associated with cognitive impairments and a 41% risk of developing schizophrenia. While several studies performed on patients with 22q11DS showed the presence of abnormal functional connectivity in this syndrome, how these alterations affect large-scale network organization is still unknown. Here we performed a network modularity analysis on whole-brain functional connectomes derived from the resting-state fMRI of 40 patients with 22q11DS and 41 healthy control participants, aged between 9 and 30 years old. We then split the sample at 18 years old to obtain two age subgroups and repeated the modularity analyses. We found alterations of modular communities affecting the visuo-spatial network and the anterior cingulate cortex (ACC) in both age groups. These results corroborate previous structural and functional studies in 22q11DS that showed early impairment of visuo-spatial processing regions. Furthermore, as ACC has been linked to the development of psychotic symptoms in 22q11DS, the early impairment of its functional connectivity provide further support that ACC alterations may provide potential biomarkers for an increased risk of schizophrenia. Finally, we found an abnormal modularity partition of the dorsolateral prefrontal cortex (DLPFC) only in adults with 22q11DS, suggesting the presence of an abnormal development of functional network communities during adolescence in 22q11DS.

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Section: Reorganization Of Modular Communities In Patients With 22q11dssupporting

confidence: 70%

Section: Reorganization Of Modular Communities In Patients With 22q11dsmentioning

confidence: 59%

Large-scale functional network reorganization in 22q11.2 deletion syndrome revealed by modularity analysis

Scariati

Schaer

Karahanoğlu

et al. 2016

Cortex

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“…Early studies typically focused on grey matter changes, and most reported an overall significant reduction in total brain tissue and gray matter volumes in individuals with 22q11.2DS (Campbell et al, 2006; Dufour et al, 2008; Gothelf et al, 2011). Studies have also demonstrated white matter abnormalities, particularly volumetric deficits, in children (Campbell et al, 2006; Kates et al, 2001), adolescents (Baker et al, 2011), and adults (da Silva Alves et al, 2011; van Amelsvoort et al, 2001) with 22q11.2DS.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…A volumetric study demonstrated bilateral volumetric reductions in cingulate gyrus cortical volume gray matter in 22q11.2DS compared to controls (Dufour et al, 2008). Furthermore, the authors observed a significant reduction in right cingulate gray matter volume in a low-performing executive functioning group (Dufour et al, 2008). As noted above, we have recently used a whole brain, atlas-based method to investigate white matter microstructure, and found that the anterior cingulum bundle (CB) (among other tracts) showed reductions in axial diffusivity (Radoeva et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

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White matter microstructural abnormalities of the cingulum bundle in youths with 22q11.2 deletion syndrome: Associations with medication, neuropsychological function, and prodromal symptoms of psychosis

Kates

Olszewski

Gnirke

et al. 2015

Schizophrenia Research

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Background The 22q11.2 Deletion Syndrome (22q11.2DS) is regarded as an etiologically homogenous model for understanding neuroanatomic disruptions associated with a high risk for schizophrenia. This study utilized diffusion tensor imaging (DTI) to analyze white matter microstructure in individuals with 22q11.2DS. We focused on the cingulum bundle (CB), previously shown to be disrupted in patients with schizophrenia and associated with symptoms of psychosis. Methods White matter microstructure was assessed in the anterior, superior, and posterior CB using the tractography algorithm in DTIStudio. Neuropsychological function, presence of prodromal symptoms of psychosis, and medication history were assessed in all participants. Results Relative to controls, young adults with 22q11.2DS showed alterations in most DTI metrics of the CB. Alterations were associated with positive prodromal symptoms of psychosis. However, when individuals with 22q11.2DS were divided by usage of antipsychotics / mood stabilizers, the medicated and non-medicated groups differed significantly in axial diffusivity of the anterior CB and in fractional anisotropy of the superior CB. DTI metrics did not differ between the medicated group and the control group. Conclusions Results suggest that the microstructure of the CB is altered in individuals with 22q11.2DS, and that those alterations may underlie positive prodromal symptoms of psychosis. Our findings further provide preliminary evidence that antipsychotic / mood stabilizer usage may have a reparative effect on white matter microstructure in prodromal 22q11.2DS, independent of the potential effects of psychosis. Future studies of white matter pathology in individuals with 22q11.2DS should test for potential effects of medication on white matter microstructure.

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Associations between neurodevelopmental genes, neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndrome

Thompson

Karelis

Middleton

et al. 2017

American J of Med Genetics Pt B

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22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer. Participants were genotyped for 10 SNPs in the COMT, DGCR8, GNB1L, PIK4CA, PRODH, RTN4R, and ZDHHC8 genes. All subjects were assessed for ultra high risk symptoms of psychosis. Allelic variation of the rs701428 SNP of RTN4R was significantly associated with volumetric differences in gray matter of the lingual gyrus and cuneus of the occipital lobe. Moreover, occipital gray matter volumes were robustly associated with ultra high risk symptoms of psychosis in the presence of the G allele of rs701428. Our results suggest that RTN4R, a relatively under-studied gene at the 22q11 locus, constitutes a susceptibility gene for psychosis in individuals with this syndrome through its alteration of the architecture of the brain. © 2017 Wiley Periodicals, Inc.

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Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome

Cited by 47 publications

References 56 publications

Large-scale functional network reorganization in 22q11.2 deletion syndrome revealed by modularity analysis

Large-scale functional network reorganization in 22q11.2 deletion syndrome revealed by modularity analysis

White matter microstructural abnormalities of the cingulum bundle in youths with 22q11.2 deletion syndrome: Associations with medication, neuropsychological function, and prodromal symptoms of psychosis

Associations between neurodevelopmental genes, neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndrome

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