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. 2009 Mar;1(1):46-60.
doi: 10.1007/s11689-009-9008-9. Epub 2009 Mar 5.

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

Rayna Azuma  1 , Eileen M Daly, Linda E Campbell, Angela F Stevens, Quinton Deeley, Vincent Giampietro, Michael J Brammer, Beate Glaser, Fiona Z Ambery, Robin G Morris, Steven C R Williams, Michael J Owen, Declan G M Murphy, Kieran C Murphy
Affiliations

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

Rayna Azuma et al. J Neurodev Disord. 2009 Mar.

Abstract

22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with a microdeletion of chromosome 22q11. In addition to high rates of neuropsychiatric disorders such as schizophrenia and attention deficit hyperactivity disorder, children with 22q11DS have a specific neuropsychological profile with particular deficits in visuospatial and working memory. However, the neurobiological substrate underlying these deficits is poorly understood. We investigated brain function during a visuospatial working memory (SWM) task in eight children with 22q11DS and 13 healthy controls, using fMRI. Both groups showed task-related activation in dorsolateral prefrontal cortex (DLPFC) and bilateral parietal association cortices. Controls activated parietal and occipital regions significantly more than those with 22q11DS but there was no significant between-group difference in DLPFC. In addition, while controls had a significant age-related increase in the activation of posterior brain regions and an age-related decrease in anterior regions, the 22q11DS children showed the opposite pattern. Genetically determined differences in the development of specific brain systems may underpin the cognitive deficits in 22q11DS, and may contribute to the later development of neuropsychiatric disorders.

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Figures

Fig. 1
Fig. 1
Examples of stimuli used for the SWM task and baseline task
Fig. 2
Fig. 2
SWM task performed during the fMRI scan. For the SWM task (top two), subjects had to remember the positions of the boxes in which an apple (target) was presented sequentially. After 2,000 ms of delay following the presentation of the target in the final box for a given trial, one of the boxes was highlighted, and the subjects pressed a button to indicate whether or not the target had appeared in this box. For the “memory load = 3” condition, the target was presented in three of the ten boxes, whereas for the “memory load = 5” condition, five boxes were used target locations. For the baseline task (bottom), the stimuli were presented sequentially in the predictable order (i.e. top-left, top-right, bottom-left, bottom-right). When the middle box was highlighted after the delay, subjects pressed the pre-specified button
Fig. 3
Fig. 3
Brain activation maps for the 22q11DS group (above) and the control group (below). The red/yellow areas indicate regions where there was significant activation during the SWM task as compared to the baseline task (voxel p = 0.05, cluster p = 0.01)
Fig. 4
Fig. 4
Areas that showed significant correlation between task performance and brain activations were observed (voxel p = 0.05, cluster p = 0.01)
Fig. 5
Fig. 5
Areas that showed age-related change in brain activation were observed (voxel p = 0.005; cluster p = 0.01)
See this image and copyright information in PMC

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