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We studied the functional neuroanatomy of social behaviour in
velo-cardio-facial syndrome (VCFS) using a facial emotional processing task
and functional magnetic resonance imaging in adults with this syndrome and
controls matched for age and IQ. The VCFS group had less activation in the
right insula and frontal brain regions and more activation in occipital
regions. Genetically determined abnormalities in pathways including those
involved in emotional processing may underlie deficits in social cognition
in people with VCFS.
Velo-cardio-facial syndrome (VCFS) is associated with deletions in the q11 band of chromosome 22, learning disability and psychosis, but the neurobiological basis is poorly understood.
To investigate brain anatomy in adults with VCFS.
Magnetic resonance imaging was used to study 10 patients with VCFS and 13 matched controls. We carried out three analyses: qualitative; traced regional brain volume; and measurement of grey and white matter volume.
The subjects with VCFS had: a high prevalence of white matter hyperintensities and abnormalities of the septum pellucidum; a significantly smaller volume of cerebellum; and widespread differences in white matter bilaterally and regional specific differences in grey matter in the left cerebellum, insula, and frontal and right temporal lobes.
Deletion at chromosome 22q11 is associated with brain abnormalities that are most likely neurodevelopmental and may partially explain the high prevalence of learning disability and psychiatric disorder in VCFS.
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