Background
22q11.2 deletion syndrome (22q11DS) is a neurogenetic syndrome associated with a high
rate of psychiatric disorders. Previous research has revealed distinctive cognitive
deficits, including impaired face processing. However, the neuro-functional substrates
underlying these deficits have not been explored. Our aim was to investigate facial
and emotional processing in 22q11DS.
Methods
During event-related functional magnetic resonance imaging, 15 individuals with 22q11DS
were compared with age- and gender-matched healthy control subjects on a simple visual
categorization task (faces or houses). Each stimulus was presented twice, and faces
had either neutral or emotional (fearful) expressions.
Results
Abnormal responses to faces were observed in 22q11DS, including a lack of normal face-selectivity
in fusiform gyrus. By contrast, responses to houses were comparable across groups,
with preserved selectivity in parahippocampal gyrus. Results also revealed a repetition-suppression
effect for fearful faces in the right amygdala, which arose in healthy control subjects
only, suggesting a lack of amygdala modulation by fear expression in 22q11DS.
Conclusions
Our results demonstrate selective anomalies in several brain regions critically implicated
in visual and social function in 22q11DS. These findings suggest important new avenues
for studying emotional processing and social deficits frequently observed in psychotic
patients and establishing their relation to specific phenotypic manifestations in
22q11DS.
Key Words
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Article info
Publication history
Published online: July 28, 2007
Accepted:
February 24,
2007
Received in revised form:
February 8,
2007
Received:
October 26,
2006
Identification
Copyright
© 2008 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
