title: Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.
abstract: BACKGROUND
  There is increased risk of developing psychosis in 22q11.2 deletion syndrome (22q11DS). Although this condition is associated with morphologic brain abnormalities, simultaneous examination of multiple high-resolution measures of cortical structure has not been performed.
  
  
  METHODS
  Fifty-three patients with 22q11DS, 30 with psychotic symptoms, were compared with demographically matched nondeleted youths: 53 typically developing and 53 with psychotic symptoms. High-resolution magnetic resonance imaging measures of cerebral volume, cortical thickness, surface area, and an index of local gyrification were obtained and compared between groups.
  
  
  RESULTS
  Patients with 22q11DS demonstrated global increases in cortical thickness associated with reductions in surface area, reduced index of local gyrification, and lower cerebral volumes relative to typically developing controls. Findings were principally in the frontal lobe, superior parietal lobes, and in the paramedian cerebral cortex. Focally decreased thickness was seen in the superior temporal gyrus and posterior cingulate cortex in 22q11DS relative to nondeleted groups. Patterns between nondeleted participants with psychotic symptoms and 22q11DS were similar but with important differences in several regions implicated in schizophrenia. Post hoc analysis suggested that like the 22q11DS group, cortical thickness in nondeleted individuals with psychotic symptoms differed from typically developing controls in the superior frontal gyrus and superior temporal gyrus, regions previously linked to schizophrenia.
  
  
  CONCLUSIONS
  Simultaneous examination of multiple measures of cerebral architecture demonstrates that differences in 22q11DS localize to regions of the frontal, superior parietal, superior temporal, and paramidline cerebral cortex. The overlapping patterns between nondeleted participants with psychotic symptoms and 22q11DS suggest partially shared neuroanatomic substrates.
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania; Department of Radiology, Hospital of the University of Pennsylvania.
authors.forename: J Eric
authors.initials: JE
authors.lastname: Schmitt
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: Simon
authors.initials: S
authors.lastname: Vandekar
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania; Department of Child and Adolescent Psychiatry.
authors.forename: James
authors.initials: J
authors.lastname: Yi
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: Monica E
authors.initials: ME
authors.lastname: Calkins
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: Kosha
authors.initials: K
authors.lastname: Ruparel
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: David R
authors.initials: DR
authors.lastname: Roalf
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: Daneen
authors.initials: D
authors.lastname: Whinna
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia.
authors.forename: Margaret C
authors.initials: MC
authors.lastname: Souders
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: Theodore D
authors.initials: TD
authors.lastname: Satterwaite
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania.
authors.forename: Karthik
authors.initials: K
authors.lastname: Prabhakaran
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania; Department of Radiology, Hospital of the University of Pennsylvania.
authors.forename: Ruben C
authors.initials: RC
authors.lastname: Gur
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.affiliation: Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, University of Pennsylvania; Department of Radiology, Hospital of the University of Pennsylvania. Electronic address: raquel@upenn.edu.
authors.forename: Raquel E
authors.initials: RE
authors.lastname: Gur
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000473:pathology; D055815:Young Adult
keywords: 22q11 Deletion syndrome; Cortical thickness; Genetics; Gyrification index; MRI; Psychosis