Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment

<p>Abstract</p> <p>Background</p> <p>Previous investigations of individuals with chromosome 22q11.2 deletion syndrome (DS22q11.2) have reported alterations in both brain anatomy and cognitive function. Neuroanatomical studies have reported multiple abnormalities includi...

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Main Authors: Lee Aaron, Wu Zhongle, DeBoer Tracy, Simon Tony J
Format: Article
Language:English
Published: BMC 2007-10-01
Series:Behavioral and Brain Functions
Online Access:http://www.behavioralandbrainfunctions.com/content/3/1/54
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author Lee Aaron
Wu Zhongle
DeBoer Tracy
Simon Tony J
author_facet Lee Aaron
Wu Zhongle
DeBoer Tracy
Simon Tony J
author_sort Lee Aaron
collection DOAJ
description <p>Abstract</p> <p>Background</p> <p>Previous investigations of individuals with chromosome 22q11.2 deletion syndrome (DS22q11.2) have reported alterations in both brain anatomy and cognitive function. Neuroanatomical studies have reported multiple abnormalities including changes in both gray and white matter in the temporal lobe, including the amygdala and hippocampus. Separate investigations of cognitive abilities have established the prevalence of general intellectual impairment, although the actual extent to which a single individual is affected varies greatly within the population. The present study was designed to examine structures within the temporal lobe and assess their functional significance in terms of cognition in children with DS22q11.2.</p> <p>Method</p> <p>A total of 72 children (ages 7–14 years) participated in the investigation: 36 children (19 female, 17 male) tested FISH positive for chromosome 22q11.2 deletion (Mean age = 10 years 9 months, ± 2 yr 4 mo) and 36 were age-matched typically developing controls (13 female, 23 male; Mean age = 10 years 6 months, ± 1 yr 11 mo). For each subject, a three-dimensional high-resolution (1 mm isotropic) T1-weighted structural MRI was acquired. Neuroanatomical guidelines were used to define borders of the amygdala and hippocampus bilaterally and volumes were calculated based on manual tracings of the regions. The Wechsler Intelligence Scale for Children (WISC) was also administered.</p> <p>Results</p> <p>Volumetric reductions in total gray matter, white matter, and both the amygdala and hippocampus bilaterally were observed in children with DS22q11.2. Reductions in the left hippocampus were disproportionate to decreases in gray matter after statistically controlling for group differences in total gray matter, age, and data collection site. This specific reduction in hippocampal volume was significantly correlated with performance on standardized measures of intelligence, whereas the other neuroanatomical measures were not (gray/white matter, CSF, and amygdala).</p> <p>Conclusion</p> <p>Results from this study not only contribute to the understanding of the neuroanatomical variation in DS22q11.2, but also provide insight into the nature and source of the cognitive impairments associated with the syndrome. Specifically, we report that decreases in hippocampal volume may serve as an index of severity for cognitive impairments in children with DS22q11.2.</p>
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spelling doaj.art-e4835bea6cde4990a303136c6b5302ba2022-12-22T01:17:51ZengBMCBehavioral and Brain Functions1744-90812007-10-01315410.1186/1744-9081-3-54Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairmentLee AaronWu ZhongleDeBoer TracySimon Tony J<p>Abstract</p> <p>Background</p> <p>Previous investigations of individuals with chromosome 22q11.2 deletion syndrome (DS22q11.2) have reported alterations in both brain anatomy and cognitive function. Neuroanatomical studies have reported multiple abnormalities including changes in both gray and white matter in the temporal lobe, including the amygdala and hippocampus. Separate investigations of cognitive abilities have established the prevalence of general intellectual impairment, although the actual extent to which a single individual is affected varies greatly within the population. The present study was designed to examine structures within the temporal lobe and assess their functional significance in terms of cognition in children with DS22q11.2.</p> <p>Method</p> <p>A total of 72 children (ages 7–14 years) participated in the investigation: 36 children (19 female, 17 male) tested FISH positive for chromosome 22q11.2 deletion (Mean age = 10 years 9 months, ± 2 yr 4 mo) and 36 were age-matched typically developing controls (13 female, 23 male; Mean age = 10 years 6 months, ± 1 yr 11 mo). For each subject, a three-dimensional high-resolution (1 mm isotropic) T1-weighted structural MRI was acquired. Neuroanatomical guidelines were used to define borders of the amygdala and hippocampus bilaterally and volumes were calculated based on manual tracings of the regions. The Wechsler Intelligence Scale for Children (WISC) was also administered.</p> <p>Results</p> <p>Volumetric reductions in total gray matter, white matter, and both the amygdala and hippocampus bilaterally were observed in children with DS22q11.2. Reductions in the left hippocampus were disproportionate to decreases in gray matter after statistically controlling for group differences in total gray matter, age, and data collection site. This specific reduction in hippocampal volume was significantly correlated with performance on standardized measures of intelligence, whereas the other neuroanatomical measures were not (gray/white matter, CSF, and amygdala).</p> <p>Conclusion</p> <p>Results from this study not only contribute to the understanding of the neuroanatomical variation in DS22q11.2, but also provide insight into the nature and source of the cognitive impairments associated with the syndrome. Specifically, we report that decreases in hippocampal volume may serve as an index of severity for cognitive impairments in children with DS22q11.2.</p>http://www.behavioralandbrainfunctions.com/content/3/1/54
spellingShingle Lee Aaron
Wu Zhongle
DeBoer Tracy
Simon Tony J
Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
Behavioral and Brain Functions
title Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
title_full Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
title_fullStr Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
title_full_unstemmed Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
title_short Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
title_sort hippocampal volume reduction in children with chromosome 22q11 2 deletion syndrome is associated with cognitive impairment
url http://www.behavioralandbrainfunctions.com/content/3/1/54
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AT wuzhongle hippocampalvolumereductioninchildrenwithchromosome22q112deletionsyndromeisassociatedwithcognitiveimpairment
AT deboertracy hippocampalvolumereductioninchildrenwithchromosome22q112deletionsyndromeisassociatedwithcognitiveimpairment
AT simontonyj hippocampalvolumereductioninchildrenwithchromosome22q112deletionsyndromeisassociatedwithcognitiveimpairment