Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study

Azuma, Rayna; Daly, Eileen; Campbell, Linda E.; Stevens, Angela; Deeley, Quinton; Giampietro, Vincent; Brammer, Michael; Glaser, Beate; Ambery, Fiona; Morris, Robin G.; Williams, Steven; Murphy, Declan; Murphy, Kieran C.

doi:10.1007/s11689-009-9008-9

Cited by 31 publications

(27 citation statements)

References 69 publications

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“…The authors argued this to be related to the need to recruit more resources to perform the tasks. I another study, 22q11.2DS children and adolescents were compared to TD controls during a spatial working memory task (Azuma et al, 2009), researchers found a greater activation in the TD group in than children with 22q11DS in parietal and occipital regions with no significant difference in activation of frontal regions (dorso lateral prefrontal cortex) between both groups.…”

Section: Discussionmentioning

confidence: 99%

White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

et al. 2013

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Children with chromosome 22q11.2 Deletion Syndrome (22q11.2DS), Fragile X Syndrome (FXS), or Turner Syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14 years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders.

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Section: Discussionmentioning

confidence: 99%

White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

et al. 2013

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“…Moreover, it has been shown that children with 22q11.2DS tend to present significant decreased activation in the parietal and occipital lobe during a visuo-spatial working memory task (Azuma et al, 2009). From a clinical point of view, visuo-spatial impairments have been extensively reported in the syndrome (Wang et al, 2000, 2011; Simon et al, 2005a; Jacobson et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

Action simulation in hallucination-prone adolescents

Dahoun

Eliez

Chen

et al. 2013

Front. Hum. Neurosci.

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Theoretical and empirical accounts suggest that impairments in self-other discrimination processes are likely to promote the expression of hallucinations. Studies using a variety of paradigms involving self-performed actions argue in favor of perspective taking confusion in hallucination-prone subjects. However, our understanding of such processes during adolescence is still at an early stage. The present study thus aims (1) to delineate the neural correlates sustaining mental simulation of actions involving self-performed actions (first-person perspective; 1PP) and other-performed actions (third-person perspective; 3PP) during adolescence (2) to identify atypical activation patterns during 1PP/3PP mental simulation of actions in hallucination-prone adolescents (3) to examine whether differential risk for schizophrenia (clinical vs. genetic) is also associated with differential impairments in the 1PP/3PP mental simulation of actions during adolescence. Twenty-two typically developing controls (Control group; 6 females), 12 hallucination-prone adolescents [auditory hallucination (AH) group; 7 females] and 13 adolescents with 22q11.2 Deletion Syndrome (22q11.2DS group; 4 females) were included in the study. During the fMRI task, subjects were presented with a cue (self-other priming cues) indicating to perform the task using either a first person perspective (“you”-1PP) or a third person perspective (“best friend”-3PP) and then they were asked to mentally simulate actions based on the type of cue. Hallucination-proneness was assessed using a self-report questionnaire [Cardiff Anomalous Perception Scale (CAPS)]. Our results indicated that atypical patterns of cerebral activation, particularly in the key areas of self-other distinction, were found in both groups at risk for auditory hallucinations (AHs and 22q11.2DS). More precisely, adolescents in the AH group presented decreased activations in the right middle occipital gyrus BA19, left cingulate gyrus BA31, and right precuneus BA31 for the 3PP > 1PP contrast. Adolescents in the 22q11.2DS group presented decreased activations in the right superior occipital gyrus BA19, left caudate tail and left precuneus BA7 for the 3PP > 1PP contrast. In comparison to the Control group, only the 22q11.2DS adolescents showed a decreased activation for other-related cues (prime other > prime self contrast) in areas of visual imagery, episodic memory and social cognition. This study characterizes the neural correlates of mental imagery for actions during adolescence, and suggests that a differential risk for hallucination-proneness (clinical vs. genetic) is associated to similar patterns of atypical activations in key areas sustaining self-other discrimination processes. These observations may provide relevant information for future research and prevention strategies with regards to hallucination-proneness during adolescence.

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“…These studies have reported abnormal neural activity in tasks involving response inhibition (53) and working memory (54), specifically involving atypical parietal activation. Although differences in behavioral performance could contribute to the observed neurophysiologic differences, these findings offer preliminary evidence for atypical development of specific neural circuits critical for higher-order cognitive functions in 22q11DS.…”

Section: Endophenotypes In Mice and Menmentioning

confidence: 99%

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

Jonas

Montojo

Bearden

2014

Biological Psychiatry

179

156

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Evidence is rapidly accumulating that rare, recurrent copy number variants (CNVs) represent large effect risk factors for neuropsychiatric disorders. 22q11.2 Deletion Syndrome (22q11DS; Velo-Cardio-Facial Syndrome (VCFS) or DiGeorge Syndrome) is the most common known contiguous gene deletion syndrome, and is associated with diverse neuropsychiatric disorders across the lifespan. One of the most intriguing aspects of the syndrome is the variability in clinical and cognitive presentation: children with 22q11DS have high prevalence of autism spectrum (ASD), attention deficit, and anxiety disorders, as well as psychotic-like features, and up to 30% of adolescents and adults develop schizophrenia-like psychosis. Recently, cases of early-onset Parkinson’s Disease in adults have been reported, collectively suggesting a role for disrupted dopaminergic neurotransmission in the observed neuropsychiatric phenotypes. There is also some evidence that 22q11DS-associated ASD and schizophrenia represent two unrelated phenotypic manifestations, consistent with a neuropsychiatric pleiotropy model. This genetic lesion thus provides a unique model for the discovery of specific genomic risk and (potentially) protective factors for neuropsychiatric disease. Here we provide an overview of neuropsychiatric findings to date, which highlight the value of this syndrome in mapping the developmental trajectory of dimensional phenotypes that traverse multiple diagnostic categories. Potential sources of genetic variability that may contribute to the disorder’s heterogeneous presentation are reviewed. Because of its known genetic etiology, animal models can readily be developed that recapitulate specific aspects of the syndrome. Future research directions involve translational models and potential for drug screenable targets in the context of this human model system.

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Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study

Cited by 31 publications

References 69 publications

White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

Action simulation in hallucination-prone adolescents

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

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