Cerebral Cortex Advance Access originally published online on October 20, 2006
Cerebral Cortex 2007 17(8):1889-1898; doi:10.1093/cercor/bhl097
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Mapping Cortical Thickness in Children with 22q11.2 Deletions
1 Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, 2 Department of Psychology, 3 Laboratory of Neuro Imaging and Brain Mapping Division, Department of Neurology, University of California, Los Angeles, CA 90095, USA, 4 Medical Investigations of Neurodevelopmental Disorders Institute, University of California, Davis, CA 95817, USA, 5 Department of Psychiatry, University of Texas Health Science Center at San Antonio, TX 78229, USA, 6 Division of Human Genetics of the Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Address correspondence to Carrie E. Bearden, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, 300 Medical Plaza, Suite 2265, Los Angeles, CA 90095, USA. Email: cbearden{at}mednet.ucla.edu.
The 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome, 22q11.2DS) involves cardiac and craniofacial anomalies, marked deficits in visuospatial cognition, and elevated rates of psychosis. Although the mechanism is unknown, characteristic brain alterations may predispose to development of psychosis and cognitive deficits in 22q11DS. We applied cortical pattern matching and new methods for measuring cortical thickness in millimeters to structural magnetic resonance images of 21 children with confirmed 22q11.2 deletions and 13 demographically matched healthy comparison subjects. Thickness was mapped at 65 536 homologous points, based on 3-dimensional distance from the cortical gray–white matter interface to the external gray–cerebrospinal fluid boundary. A pattern of regionally specific cortical thinning was observed in superior parietal cortices and right parietooccipital cortex, regions critical for visuospatial processing, and bilaterally in the most inferior portion of the inferior frontal gyrus (pars orbitalis), a key area for language development. Several of the 30 genes encoded in the deleted segment are highly expressed in the developing brain and known to affect early neuronal migration. These brain maps reveal how haploinsufficiency for such genes can affect cortical development and suggest a possible underlying pathophysiology of the neurobehavioral phenotype.
Key Words: brain mapping • chromosome 22 • genetics • MRI • velocardiofacial syndrome
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