Behavioral and Brain Functions

official impact factor 2.31

Open Access Research

Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome

Tony J Simon1*, Zhongle Wu1, Brian Avants2, Hui Zhang2, James C Gee2 and Glenn T Stebbins3

Author Affiliations

1 M.I.N.D. Institute, University of California, Davis, 2825 50th Street, Sacramento, CA 95817, USA

2 Department of Radiology, University of Pennsylvania, 3600 Market St. Philadelphia, PA 19104, USA

3 Rush University Medical Center, Department of Neurological Sciences, 1725 W. Harrison, Chicago, IL 60612, USA

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Behavioral and Brain Functions 2008, 4:25 doi:10.1186/1744-9081-4-25

Published: 17 June 2008

Abstract

Background

Chromosome 22q11.2 deletion syndrome is one of the most common genetic causes of cognitive impairment and developmental disability yet little is known about the neural bases of those challenges. Here we expand upon our previous neurocognitive studies by specifically investigating the hypothesis that changes in neural connectivity relate to cognitive impairment in children with the disorder.

Methods

Whole brain analyses of multiple measures computed from diffusion tensor image data acquired from the brains of children with the disorder and typically developing controls. We also correlated diffusion tensor data with performance on a visuospatial cognitive task that taps spatial attention.

Results

Analyses revealed four common clusters, in the parietal and frontal lobes, that showed complementary patterns of connectivity in children with the deletion and typical controls. We interpreted these results as indicating differences in connective complexity to adjoining cortical regions that are critical to the cognitive functions in which affected children show impairments. Strong, and similarly opposing patterns of correlations between diffusion values in those clusters and spatial attention performance measures considerably strengthened that interpretation.

Conclusion

Our results suggest that atypical development of connective patterns in the brains of children with chromosome 22q11.2 deletion syndrome indicate a neuropathology that is related to the visuospatial cognitive impairments that are commonly found in affected individuals.