TY - JOUR
T1 - Regional cortical white matter reductions in velocardiofacial syndrome
T2 - A volumetric MRI analysis
AU - Kates, Wendy R.
AU - Burnette, Courtney P.
AU - Jabs, Ethylin W.
AU - Rutberg, Julie
AU - Murphy, Anne M.
AU - Grados, Marco
AU - Geraghty, Michael
AU - Kaufmann, Walter E.
AU - Pearlson, Godfrey D.
N1 - Funding Information:
This work was supported by a Young Investigator Award from the National Alliance for Research in Schizophrenia and Depression (WRK) and National Institutes of Health Grants Nos. HD 24061, P60 DE13078, and M01 RR00052 (EWJ).
Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 2001/4/15
Y1 - 2001/4/15
N2 - 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.
AB - 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.
KW - Cerebral lobes
KW - Chromosome 22q11
KW - Velocardiofacial syndrome
KW - Volumetric MRI
KW - White matter
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U2 - 10.1016/S0006-3223(00)01002-7
DO - 10.1016/S0006-3223(00)01002-7
M3 - Article
C2 - 11313035
AN - SCOPUS:0035871350
SN - 0006-3223
VL - 49
SP - 677
EP - 684
JO - Biological psychiatry
JF - Biological psychiatry
IS - 8
ER -