Psychiatry Research: Neuroimaging
Volume 181, Issue 2 , Pages 108-113, 28 February 2010

Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome

  • Elliott A. Beaton

      Affiliations

    • Department of Psychiatry, University of California, Davis, CA, USA
    • UC Davis M.I.N.D. Institute, University of California, Davis, Sacramento, CA, USA
  • ,
  • Yufeng Qin

      Affiliations

    • UC Davis M.I.N.D. Institute, University of California, Davis, Sacramento, CA, USA
    • Department of Child Development, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China
  • ,
  • Vy Nguyen

      Affiliations

    • Department of Psychiatry, University of California, Davis, CA, USA
    • UC Davis M.I.N.D. Institute, University of California, Davis, Sacramento, CA, USA
  • ,
  • Joel Johnson

      Affiliations

    • Department of Psychiatry, University of California, Davis, CA, USA
    • UC Davis M.I.N.D. Institute, University of California, Davis, Sacramento, CA, USA
  • ,
  • Joseph D. Pinter

      Affiliations

    • Department of Pediatrics, Division of Neurology, Oregon Health and Science University, Portland, OR, USA
  • ,
  • Tony J. Simon

      Affiliations

    • Department of Psychiatry, University of California, Davis, CA, USA
    • UC Davis M.I.N.D. Institute, University of California, Davis, Sacramento, CA, USA
    • Corresponding Author InformationCorresponding author. UC Davis M.I.N.D. Institute, 2825 50th St., Sacramento, CA 95817, USA. Tel.: +1 916 703 0407; fax: +1 916 734 3384.

Received 3 April 2009; received in revised form 12 August 2009; accepted 17 October 2009.

Abstract 

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length and, for the first time, volume, of the cavum septum pellucidum (CSP) in children aged 7 to 14years with 22q11.2DS and typically developing (TD) controls. Significantly greater anteroposterior length and greater CSP volumes were found in children with 22q11.2DS compared with controls. Furthermore, the largest CSP were found only in the 22q11.2DS group and with a much higher incidence than previously reported in the literature. Given the significant midline anomalies in the brains of those affected by 22q11.2DS, large CSP may be a biomarker of atypical brain development. The implication of these larger CSP for cognitive and behavioral development is a topic in need of further investigation.

Abbreviations: 22q11.2DS, chromosome 22q11.2 deletion syndrome, CSP, cavum septum pellucidum, TD, typically developing, IQ, intelligence quotient, CV, cavum vergae, SD, standard deviation, WISC, Wechsler Intelligence Scale for Children, FSIQ, full scale intelligence quotient, PO, Perceptual Organization, PRI, Perceptual Reasoning Index, VCI, Verbal Comprehension Index, CHOP, Children's Hospital of Philadelphia, HUP, Hospital of the University of Pennsylvania, UCD, University of California, Davis, χ2, chi-square

Keywords: Genetic disorder, Pediatric neuroimaging, Brain volumetric methods, Velocardiofacial syndrome (VCFS), DiGeorge syndrome

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PII: S0925-4927(09)00242-X

doi:10.1016/j.pscychresns.2009.10.009

Psychiatry Research: Neuroimaging
Volume 181, Issue 2 , Pages 108-113, 28 February 2010