Product Description:
Background: 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.
Method: A total of 72 children (ages 7Â14 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, Â 2 yr 4 mo) and 36 were age-matched typically developing controls (13 female, 23 male;
Mean age = 10 years 6 months, Â 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.
Results: 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).
Conclusion: 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.
