Abstract
Background: Velocardiofacial syndrome, caused by a microdeletion on chromosome 22q.11,
is associated with craniofacial anomalies, cardiac defects, learning disabilities,
and psychiatric disorders. To understand how the 22q.11 deletion affects brain development,
this study examined gray and white matter volumes in major lobar brain regions of
children with velocardiofacial syndrome relative to control subjects.
Methods: Subjects were ten children with velocardiofacial syndrome and ten age- and
gender-matched unaffected children. Coronal images were acquired with a 3-D spoiled
gradient echo series and partitioned into 124, 1.5-mm contiguous slices. A stereotaxic
grid was used to subdivide brain tissue into cerebral lobes, which were segmented
into gray, white, and CSF compartments using an algorithm based on intensity values
and tissue boundaries. Nonparametric statistics were used to compare lobar volumes
of gray and white matter.
Results: Analyses indicated that children with velocardiofacial syndrome had significantly
smaller volumes in nonfrontal, but not frontal, lobar brain regions. Volume reductions
affected nonfrontal white matter to a greater extent than nonfrontal gray matter.
Conclusions: The presence of white matter reductions may be related to disturbances
in myelination or axonal integrity in velocardiofacial syndrome. Further work is required
to delineate the nature and extent of white matter anomalies, and to link them to
variation in the neurocognitive and neuropsychiatric phenotype of velocardiofacial
syndrome.
Keywords
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Article info
Publication history
Accepted:
July 31,
2000
Received in revised form:
July 24,
2000
Received:
January 28,
2000
Identification
Copyright
© 2001 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
