Psychiatry Research: Neuroimaging
Volume 181, Issue 1 , Pages 1-8 , 30 January 2010

Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome

  • Vandana Shashi

      Affiliations

    • Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, United States
    • Department of Pediatrics, Wake Forest University Health Sciences, Winston-Salem, NC 27157, United States
    • Corresponding Author InformationCorresponding author. Department of Pediatrics, Division of Medical Genetics/Clinical, Box 103857 DUMC, Room 2080, 2nd Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, United States. Tel.: +1 919 681 2616; fax: +1 919 668 0414.
    • ,
  • Thomas R. Kwapil

      Affiliations

    • Department of Psychology, University of North Carolina at Greensboro, NC 27402, United States
    • ,
  • Jessica Kaczorowski

      Affiliations

    • Department of Psychology, University of North Carolina at Greensboro, NC 27402, United States
    • ,
  • Margaret N. Berry

      Affiliations

    • Department of Pediatrics, Wake Forest University Health Sciences, Winston-Salem, NC 27157, United States
    • ,
  • Cesar S. Santos

      Affiliations

    • Department of Pediatrics, Wake Forest University Health Sciences, Winston-Salem, NC 27157, United States
    • ,
  • Timothy D. Howard

      Affiliations

    • Department of Pediatrics, Wake Forest University Health Sciences, Winston-Salem, NC 27157, United States
    • ,
  • Dhruman Goradia

      Affiliations

    • Department of Psychiatry, Western Psychiatry Institute, University of Pittsburgh, Pittsburgh, PA 15213, United States
    • ,
  • Konasale Prasad

      Affiliations

    • Department of Psychiatry, Western Psychiatry Institute, University of Pittsburgh, Pittsburgh, PA 15213, United States
    • ,
  • Diwadkar Vaibhav

      Affiliations

    • Department of Psychiatry, Wayne State University, Detroit, MI 48202, United States
    • ,
  • Rajaprabhakaran Rajarethinam

      Affiliations

    • Department of Psychiatry, Wayne State University, Detroit, MI 48202, United States
    • ,
  • Edward Spence

      Affiliations

    • Department of Pediatrics, Carolinas Medical Center, Charlotte, NC 28203, United States
    • ,
  • Matcheri S. Keshavan

      Affiliations

    • Department of Psychiatry, Wayne State University, Detroit, MI 48202, United States
    • Department of Psychiatry, Harvard Medical School, Boston, MA 02215, United States

Received 23 November 2008 ,Revised 1 July 2009 ,Accepted 5 July 2009.

References 

  1. Andreasen NC, Nopoulos P, O'Leary DS, Miller DD, Wassink T, Flaum M. Defining the phenotype of schizophrenia: cognitive dysmetria and its neural mechanisms. Biological Psychiatry. 1999;46:908–920
  2. Antonova E, Sharma T, Morris R, Kumari V. The relationship between brain structure and neurocognition in schizophrenia: a selective review. Schizophrenia Research. 2004;70:117–145
  3. Antshel KM, Conchelos J, Lanzetta G, Fremont W, Kates WR. Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome). Psychiatry Research. 2005;138:235–245
  4. Ashburner J, Friston KJ. Voxel-based morphometry—the methods. Neuroimage. 2000;11:805–821
  5. Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. The schizophrenia phenotype in 22q11 deletion syndrome. American Journal of Psychiatry. 2003;160:1580–1586
  6. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, et al. Clinical features of 78 adults with 22q11 deletion syndrome. American Journal of Medical Genetics A. 2005;138:307–313
  7. Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, et al. Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase. 2004;10:198–206
  8. Bearden CE, van Erp TG, Dutton RA, Tran H, Zimmermann L, Sun D, et al. Mapping cortical thickness in children with 22q11.2 deletions. Cerebral Cortex. 2006;17(8):1889–1898
  9. Bearden CE, van Erp TG, Dutton RA, Lee AD, Simon TJ, Cannon TD, et al. Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cerebral Cortex. 2009;19:115–126
  10. Bingham PM, Zimmerman RA, Donald-McGinn D, Driscoll D, Emanuel BS, Zackai E. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. American Journal of Medical Genetics. 1997;74:538–543
  11. Bish JP, Pendyal A, Ding L, Ferrante H, Nguyen V, McDonald-McGinn D, et al. Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Neuroscience Letters. 2006;399:245–248
  12. Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, et al. Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain. 2006;129:1218–1228
  13. Chelune GJ, Baer RA. Developmental norms for the Wisconsin Card Sorting test. Journal of Clinical and Experimental Neuropsychology. 1986;8:219–228
  14. Chow EW, Mikulis DJ, Zipursky RB, Scutt LE, Weksberg R, Bassett AS. Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Biological Psychiatry. 1999;46:1436–1442
  15. Chow EW, Zipursky RB, Mikulis DJ, Bassett AS. Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biological Psychiatry. 2002;51:208–215
  16. Cohen J. Statistical Power Analysis for the Behavioral Sciences. Hillsdale, NJ: Lawrence Earlbaum Associates; 1988;
  17. Cornblatt BA, Erlenmeyer-Kimling L. Global attentional deviance as a marker of risk for schizophrenia: specificity and predictive validity. Journal of Abnormal Psychology. 1985;94:470–486
  18. Debbane M, Schaer M, Farhoumand R, Glaser B, Eliez S. Hippocampal volume reduction in 22q11.2 deletion syndrome. Neuropsychologia. 2006;44:2360–2365
  19. Deboer T, Wu Z, Lee A, Simon TJ. Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behavioural Brain Function. 2007;3:54
  20. Delis DC, Kramer JH, Kaplan E, Ober BA. California Verbal Learning Test-Second Edition (CVLT-II). San Antonio, TX: The Psychological Corporation; 1994;
  21. Dufour F, Schaer M, Debbane M, Farhoumand R, Glaser B, Eliez S. Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q 11.2 deletion syndrome. Neuropsychologia. 2008;46:2986–2992
  22. Eliez S, Schmitt JE, White CD, Reiss AL. Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. American Journal of Psychiatry. 2000;157:409–415
  23. Eliez S, Blasey CM, Schmitt EJ, White CD, Hu D, Reiss AL. Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia?. American Journal of Psychiatry. 2001;158:447–453
  24. Eliez S, Schmitt JE, White CD, Wellis VG, Reiss AL. A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biological Psychiatry. 2001;49:540–546
  25. Eliez S, Barnea-Goraly N, Schmitt JE, Liu Y, Reiss AL. Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2). Biological Psychiatry. 2002;52:68–70
  26. Erlenmeyer-Kimling L, Rock D, Roberts SA, Janal M, Kestenbaum C, Cornblatt B, et al. Attention, memory, and motor skills as childhood predictors of schizophrenia-related psychoses: the New York High-Risk Project. American Journal of Psychiatry. 2000;157:1416–1422
  27. Fraser W, Nolan M, Bouras N. Psychiatric disorders in mental retardation. In: Mental Health in Mental Retardation. Cambridge: Cambridge University Press; 1994;p. 79–92
  28. Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. American Journal of Medical Genetics. 1999;85:127–133
  29. Glahn DC, Laird AR, Ellison-Wright I, Thelen SM, Robinson JL, Lancaster JL, et al. Meta-analysis of gray matter anomalies in schizophrenia: application of anatomic likelihood estimation and network analysis. Biological Psychiatry. 2008;64(9):774–781
  30. Golding-Kushner KJ, Weller G, Shprintzen RJ. Velo-cardio-facial syndrome: language and psychological profiles. Journal of Craniofacial Genetics and Developmental Biology. 1985;5:259–266
  31. Goldman-Rakic PS, Carroll BJ, Barrett JE. Prefrontal cortical dysfunction in schizophrenia: the relevance of working memory. In: Psychopathology and the Brain. New York: Raven Press; 1991;p. 1–23
  32. Honea R, Crow TJ, Passingham D, Mackay CE. Regional deficits in brain volume in schizophrenia: a meta-analysis of voxel-based morphometry studies. American Journal of Psychiatry. 2005;162:2233–2245
  33. Kates WR, Burnette CP, Jabs EW, Rutberg J, Murphy AM, Grados M, et al. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biological Psychiatry. 2001;49:677–684
  34. Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, et al. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). Journal of Child Neurology. 2004;19:337–342
  35. Kates WR, Antshel K, Willhite R, Bessette BA, AbdulSabur N, Higgins AM. Gender-moderated dorsolateral prefrontal reductions in 22q11.2 deletion syndrome: implications for risk for schizophrenia. Child Neuropsychology. 2005;11:73–85
  36. Kates WR, Miller AM, Abdulsabur N, Antshel KM, Conchelos J, Fremont W, et al. Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome). Journal of the American Academy of Child and Adolescent Psychiatry. 2006;45:587–595
  37. Kennedy KM, Erickson KI, Rodrigue KM, Voss MW, Colcombe SJ, Kramer AF, et al. Age-related differences in regional brain volumes: a comparison of optimized voxel-based morphometry to manual volumetry. Neurobiology of Aging. 2009;30:1657–1676
  38. Kern RS, Green MF, Nuechterlein KH, Deng BH. NIMH-MATRICS survey on assessment of neurocognition in schizophrenia. Schizophrenia Research. 2004;72:11–19
  39. Keshavan MS, Diwadkar VA, Montrose DM, Stanley JA, Pettegrew JW. Premorbid characterization in schizophrenia: the Pittsburgh High Risk Study. World Psychiatry. 2004;3:163–168
  40. Levine TR, Hullett C. Eta squared, partial eta squared, and misreporting of effect size in communication research. Human Communication Research. 2002;28:612–625
  41. Lewandowski KE, Shashi V, Berry PM, Kwapil TR. Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome. American Journal of Medical Genetics: B. Neuropsychiatric Genetics. 2007;144:27–36
  42. Maldjian JA, Laurienti PJ, Kraft RA, Burdette JH. An automated method for neuroanatomic and cytoarchitectonic atlas-based interrogation of fMRI data sets. Neuroimage. 2003;19:1233–1239
  43. Miller GA, Chapman JP. Misunderstanding analysis of covariance. Journal of Abnormal Psychology. 2001;110:40–48
  44. Mitnick RJ, Bello JA, Shprintzen RJ. Brain anomalies in velo-cardio-facial syndrome. American Journal of Medical Genetics. 1994;54:100–106
  45. Moss EM, Batshaw ML, Solot CB, Gerdes M, Donald-McGinn DM, Driscoll DA, et al. Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. Journal of Pediatrics. 1999;134:193–198
  46. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Archives of General Psychiatry. 1999;56:940–945
  47. National Institute of Mental Health . Computerized Diagnostic Interview Schedule for Children. Rockville, MD: NIMH; 2000;
  48. Pantelis C, Velakoulis D, McGorry PD, Wood SJ, Suckling J, Phillips LJ, et al. Neuroanatomical abnormalities before and after onset of psychosis: a cross-sectional and longitudinal MRI comparison. Lancet. 2003;361:281–288
  49. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, et al. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?. American Journal of Psychiatry. 1996;153:1541–1547
  50. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, et al. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. Journal of Nervous and Mental Disease. 1994;182:476–478
  51. Rajarethinam R, Sohi J, Arfken C, Keshavan MS. No difference in the prevalence of cavum septum pellucidum (CSP) between first-episode schizophrenia patients, offspring of schizophrenia patients and healthy controls. Schizophrenia Research. 2008;103(1–3):22–25
  52. Rapoport JL, Addington AM, Frangou S, Psych MR. The neurodevelopmental model of schizophrenia: update 2005. Molecular Psychiatry. 2005;10:434–449
  53. Rusch N, Spoletini I, Wilke M, Bria P, Di PM, Di IF, et al. Prefrontal-thalamic-cerebellar gray matter networks and executive functioning in schizophrenia. Schizophrenia Research. 2007;93:79–89
  54. Schaer M, Schmitt JE, Glaser B, Lazeyras F, Delavelle J, Eliez S. Abnormal patterns of cortical gyrification in velo-cardio-facial syndrome (deletion 22q11.2): an MRI study. Psychiatry Research: Neuroimaging. 2006;146:1–11
  55. Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain. 1998;121(Pt 4):561–579
  56. Shashi V, Muddasani S, Santos CC, Berry MN, Kwapil TR, Lewandowski E, et al. Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome. Neuroimage. 2004;21:1399–1406
  57. Shenton ME, Dickey CC, Frumin M, McCarley RW. A review of MRI findings in schizophrenia. Schizophrenia Research. 2001;49:1–52
  58. Shprintzen RJ. Velocardiofacial syndrome. Otolaryngologic Clinics of North America. 2000;33:1217–1240vi
  59. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. American Journal of Medical Genetics. 1992;42:141–142
  60. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics. 1981;67:167–172
  61. Simon TJ, Ding L, Bish JP, Donald-McGinn DM, Zackai EH, Gee J. Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage. 2005;25:169–180
  62. Sugama S, Bingham PM, Wang PP, Moss EM, Kobayashi H, Eto Y. Morphometry of the head of the caudate nucleus in patients with velocardiofacial syndrome (del 22q11.2). Acta Paediatrica. 2000;89:546–549
  63. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, et al. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. Journal of Medical Genetics. 1997;34:453–458
  64. Tandon R, Keshavan MS, Nasrallah HA. Schizophrenia, “just the facts”: what we know in 2008 part 1: overview. Schizophrenia Research. 2008;100:4–19
  65. Tezenas Du MS, Mendizabai H, Ayme S, Levy A, Philip N. Prevalence of 22q11 microdeletion. J. Med. Genet. 1996;33:719
  66. Usiskin SI, Nicolson R, Krasnewich DM, Yan W, Lenane M, Wudarsky M, et al. Velocardiofacial syndrome in childhood-onset schizophrenia. Journal of the American Academy of Child and Adolescent Psychiatry. 1999;38:1536–1543
  67. van Amelsvoort T, Daly E, Henry J, Robertson D, Ng V, Owen M, et al. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Archives of General Psychiatry. 2004;61:1085–1096
  68. van Amelsvoort T, Daly E, Robertson D, Suckling J, Ng V, Critchley H, et al. Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome. British Journal of Psychiatry. 2001;178:412–419
  69. Vataja R, Elomaa E. Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome. British Journal of Psychiatry. 1998;172:518–520
  70. Vita A, De PL, Silenzi C, Dieci M. Brain morphology in first-episode schizophrenia: a meta-analysis of quantitative magnetic resonance imaging studies. Schizophrenia Research. 2006;82:75–88
  71. Wilke M, Schmithorst VJ, Holland SK. Assessment of spatial normalization of whole-brain magnetic resonance images in children. Human Brain Mapping. 2002;17:48–60
  72. Wolf RC, Hose A, Frasch K, Walter H, Vasic N. Volumetric abnormalities associated with cognitive deficits in patients with schizophrenia. European Psychiatry. 2008;23(8):541–548
  73. Wood SJ, Pantelis C, Velakoulis D, Yucel M, Fornito A, McGorry PD. Progressive changes in the development toward schizophrenia: studies in subjects at increased symptomatic risk. Schizophrenia Bulletin. 2008;34:322–329
  74. Woodin M, Wang PP, Aleman D, Donald-McGinn D, Zackai E, Moss E. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genetics in Medicine. 2001;3:34–39
  75. Yucel M, Wood SJ, Fornito A, Riffkin J, Velakoulis D, Pantelis C. Anterior cingulate dysfunction: implications for psychiatric disorders?. Journal of Psychiatry and Neuroscience. 2003;28:350–354

PII: S0925-4927(09)00168-1

doi: 10.1016/j.pscychresns.2009.07.003

Psychiatry Research: Neuroimaging
Volume 181, Issue 1 , Pages 1-8 , 30 January 2010

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