Neuroimaging correlates of 22q11.2 deletion syndrome: Implications for schizophrenia research

Current Topics in Medicinal Chemistry

Volumn 12, Issue 21, 2012, Pages 2303-2313

  Boot, E ^a,b   van Amelsvoort, T A M J ^b,c  

^a Ipse de Bruggen   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

22q11.2 deletion syndrome; Neuroimaging; Psychosis; Schizophrenia; Velocardiofacial syndrome

Indexed keywords

CATECHOL METHYLTRANSFERASE; GLUTAMIC ACID; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NEUROTRANSMITTER; PROLINE DEHYDROGENASE;

ATTENTION DEFICIT DISORDER; BEHAVIOR; CHROMOSOME DELETION 22Q11; COGNITION; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; EMOTIONAL DISORDER; ENZYME ACTIVITY; GENETIC SUSCEPTIBILITY; HIGH RISK POPULATION; HUMAN; META ANALYSIS (TOPIC); NEUROIMAGING; NEUROTRANSMISSION; PARKINSON DISEASE; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOSIS; PUBLICATION; REVIEW; RISK FACTOR; SCHIZOPHRENIA; SEPTUM PELLUCIDUM; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SOCIAL BEHAVIOR;

EID: 84874908261     PISSN: 15680266     EISSN: 18734294     Source Type: Journal    
DOI: 10.2174/156802612805289854     Document Type: Review

References (132)

1. Óskarsdóttir, S.; Vujic, M.; Fasth, A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch. Dis. Child, 2004, 89(2), 148-151.
2. McDonald-McGinn, D. M.; Sullivan, K. E. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore), 2011, 90(1), 1-18.
3. Philip, N.; Bassett, A. Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav. Genet., 2011, 41(3), 403-412.
4. Bassett, A. S.; Chow, E. W.; Husted, J.; Weksberg, R.; Caluseriu, O.; Webb, G. D.; Gatzoulis, M. A. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am. J. Med. Genet. A, 2005, 138(4), 307-313.
5. Murphy, K. C.; Jones, L. A.; Owen, M. J. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry, 1999, 56(10), 940-945.
6. Murphy, K. C. Annotation: velo-cardio-facial syndrome. J. Child Psychol. Psychiatry, 2005, 46(6), 563-571.
7. McGrath, J.; Saha, S.; Chant, D.; Welham, J. Schizophrenia: a concise overview of incidence, prevalence, and mortality. Epidemiol. Rev., 2008, 30, 67-76.
8. van Os, J.; Kapur, S. Schizophrenia. Lancet, 2009, 374(9690), 635-645.
9. Bassett, A. S.; Chow, E. W.; O'Neill, S.; Brzustowicz, L. M. Genetic insights into the neurodevelopmental hypothesis of schizophrenia. Schizophr. Bull., 2001, 27(3), 417-430.
10. Fusar-Poli, P.; McGuire, P.; Borgwardt, S. Mapping prodromal psychosis: A critical review of neuroimaging studies. Eur. Psychiatry, 2012, 27(3), 181-191.
11. Stone, J. M.; Morrison, P. D.; Pilowsky, L. S. Glutamate and dopamine dysregulation in schizophrenia--a synthesis and selective review. J. Psychopharmacol., 2007, 21(4), 440-452.
12. Sebat, J.; Levy, D. L.; McCarthy, S. E. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet., 2009, 25(12), 528-535.
13. Bassett, A. S.; Chow, E. W.; AbdelMalik, P.; Gheorghiu, M.; Husted, J.; Weksberg, R. The schizophrenia phenotype in 22q11 deletion syndrome. Am. J. Psychiatry, 2003, 160(9), 1580-1586.
14. Armando, M.; Girardi, P.; Vicari, S.; Menghini, D.; Digilio, M. C.; Pontillo, M.; Saba, R.; Mazzone, L.; Lin, A.; Klier, C. M.; Schafer, M. R.; Amminger, G. P. Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general functioning. Schizophr. Res., 2012, 139(1-3), 151-156.
15. Gothelf, D.; Schaer, M.; Eliez, S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev. Disabil. Res. Rev., 2008, 14(1), 59-68.
16. Tan, G. M.; Arnone, D.; McIntosh, A. M.; Ebmeier, K. P. Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophr. Res., 2009, 115(2-3), 173-181.
17. Avants, B. B.; Duda, J. T.; Zhang, H.; Gee, J. C. Multivariate normalization with symmetric diffeomorphisms for multivariate studies. Med. Image Comput. Comput. Assist. Interv., 2007, 10(Pt 1), 359-366.
18. Voormolen, E. H.; Wei, C.; Chow, E. W.; Bassett, A. S.; Mikulis, D. J.; Crawley, A. P. Voxel-based morphometry and automated lobar volumetry: the trade-off between spatial scale and statistical correction. Neuroimage., 2010, 49(1), 587-596.
19. Chow, E. W.; Zipursky, R. B.; Mikulis, D. J.; Bassett, A. S. Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol. Psychiatry, 2002, 51(3), 208-215.
20. Simon, T. J.; Ding, L.; Bish, J. P.; Donald-McGinn, D. M.; Zackai, E. H.; Gee, J. Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage., 2005, 25(1), 169-180.
21. Zipursky, R. B.; Meyer, J. H.; Verhoeff, N. P. PET and SPECT imaging in psychiatric disorders. Can. J. Psychiatry, 2007, 52(3), 146-157.
22. Brooks, D. J. Imaging approaches to Parkinson disease. J. Nucl. Med., 2010, 51(4), 596-609.
23. Newberg, A. B.; Moss, A. S.; Monti, D. A.; Alavi, A. Positron emission tomography in psychiatric disorders. Ann. N. Y. Acad. Sci., 2011, 1228(1), E13-E25.
24. Niklasson, L.; Gillberg, C. The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Res. Dev. Disabil., 2010, 31(1), 185-194.
25. Cropley, V. L.; Fujita, M.; Innis, R. B.; Nathan, P. J. Molecular imaging of the dopaminergic system and its association with human cognitive function. Biol. Psychiatry, 2006, 59(10), 898-907.
26. Chen, Q.; Liu, W.; Li, H.; Zhang, H.; Tian, M. Molecular imaging in patients with mood disorders: a review of PET findings. Eur. J. Nucl. Med. Mol. Imaging, 2011, 38(7), 1367-1380.
27. Del, C. N.; Chamberlain, S. R.; Sahakian, B. J.; Robbins, T. W. The roles of dopamine and noradrenaline in the pathophysiology and treatment of attention-deficit/hyperactivity disorder. Biol. Psychiatry, 2011, 69(12), e145-e157.
28. Howes, O. D.; Montgomery, A. J.; Asselin, M. C.; Murray, R. M.; Grasby, P. M.; McGuire, P. K. Molecular imaging studies of the striatal dopaminergic system in psychosis and predictions for the prodromal phase of psychosis. Br. J. Psychiatry Suppl, 2007, 51, s13-s18.
29. Nakamura, K.; Sekine, Y.; Ouchi, Y.; Tsujii, M.; Yoshikawa, E.; Futatsubashi, M.; Tsuchiya, K. J.; Sugihara, G.; Iwata, Y.; Suzuki, K.; Matsuzaki, H.; Suda, S.; Sugiyama, T.; Takei, N.; Mori, N. Brain serotonin and dopamine transporter bindings in adults with high-functioning autism. Arch. Gen. Psychiatry, 2010, 67(1), 59-68.
30. Howes, O. D.; Kambeitz, J.; Kim, E.; Stahl, D.; Slifstein, M.; Abi-Dargham, A.; Kapur, S. The Nature of Dopamine Dysfunction in Schizophrenia and What This Means for Treatment: Meta-analysis of Imaging Studies. Arch. Gen. Psychiatry, 2012, in press.
31. Howes, O. D.; Bose, S. K.; Turkheimer, F.; Valli, I.; Egerton, A.; Valmaggia, L. R.; Murray, R. M.; McGuire, P. Dopamine Synthesis Capacity Before Onset of Psychosis: A Prospective [18F]-DOPA PET Imaging Study. Am. J. Psychiatry, 2011, 168(12), 1311-1317.
32. van Beveren, N. J.; Krab, L. C.; Swagemakers, S.; Buitendijk, G.; Boot, E.; van der Spek, P.; Elgersma, Y.; van Amelsvoort, T. A. Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome. PLoS. One., 2012, 7(3), e33473.
33. Boot, E.; Booij, J.; Zinkstok, J.; Abeling, N.; de Haan, L.; Baas, F.; Linszen, D.; van Amelsvoort, T. Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome. Neuropsychopharmacology, 2008, 33(6), 1252-1258.
34. Dunham, I.; Collins, J.; Wadey, R.; Scambler, P. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet, 1992, 340(8831), 1361-1362.
35. 158Met and Beyond. Biol. Psychiatry, 2006, 60, 141-151.
36. 123I]IBZM SPECT study. J. Psychopharmacol., 2009, 24(10), 1525-1531.
37. 158Met Genotype and Striatal D2/3 Receptor Binding in Adults with 22q11 Deletion Syndrome. Synapse, 2011, 65(9), 967-970.
38. Brannan, T.; Martinez-Tica, J.; Yahr, M. D. Catechol-O-methyltransferase inhibition increases striatal L-dopa and dopamine: an in vivo study in rats. Neurology, 1992, 42(3 Pt 1), 683-685.
39. Evers, L. J.; Vermaak, M. P.; Engelen, J. J.; Curfs, L. M. The velocardiofacial syndrome in older age: dementia and autistic features. Genet. Couns., 2006, 17(3), 333-340.
40. Evers, L. J.; De Die-Smulders, C. E.; Smeets, E. E.; Clerkx, M. G.; Curfs, L. M. The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. Genet. Couns., 2009, 20(4), 307-315.
41. Duijff, S. N.; Klaassen, P. W.; de Veye, H. F.; Beemer, F. A.; Sinnema, G.; Vorstman, J. A. Cognitive development in children with 22q11.2 deletion syndrome. Br. J. Psychiatry, 2012, 200, 462-468.
42. Zaleski, C.; Bassett, A. S.; Tam, K.; Shugar, A. L.; Chow, E. W.; McPherson, E. The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am. J. Med. Genet. A, 2009, 149A(3), 525-528.
43. Booij, J.; van, A. T.; Boot, E. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. Am. J. Med. Genet. A, 2010, 152A(11), 2937-2938.
44. Laruelle, M.; Kegeles, L. S.; Abi-Dargham, A. Glutamate, dopamine, and schizophrenia: from pathophysiology to treatment. Ann. N. Y. Acad. Sci., 2003, 1003, 138-158.
45. Stone, J. M. Imaging the glutamate system in humans: relevance to drug discovery for schizophrenia. Curr. Pharm. Des, 2009, 15(22), 2594-2602.
46. 1H-MRS Studies. Schizophr. Bull., 2011, in press.
47. Harrison, P. J.; Weinberger, D. R. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol. Psychiatry, 2005, 10(1), 40-68.
48. Hu, C. A.; Phang, J. M.; Valle, D. Proline metabolism in health and disease. Preface. Amino. Acids, 2008, 35(4), 651-652.
49. Sawa, A. Cortical development and glutamatergic dysregulation in schizophrenia. Biol. Psychiatry, 2009, 66(6), 530-532.
50. Lau, A.; Tymianski, M. Glutamate receptors, neurotoxicity and neurodegeneration. Pflugers Arch., 2010, 460(2), 525-542.
51. Bender, H. U.; Almashanu, S.; Steel, G.; Hu, C. A.; Lin, W. W.; Willis, A.; Pulver, A.; Valle, D. Functional consequences of PRODH missense mutations. Am. J. Hum. Genet., 2005, 76(3), 409-420.
52. da Silva Alves, F.; Boot, E.; Schmitz, N.; Nederveen, A.; Vorstman, J.; Lavini, C.; Pouwels, P.; de Haan, L.; Linszen, D.; van Amelsvoort, T. Proton magnetic resonance spectroscopy in 22q11 deletion syndrome. PLoS. One., 2011, 6(6), e21685.
53. Goodman, B. K.; Rutberg, J.; Lin, W. W.; Pulver, A. E.; Thomas, G. H. Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J. Inherit. Metab Dis., 2000, 23(8), 847-848.
54. Raux, G.; Bumsel, E.; Hecketsweiler, B.; van Amelsvoort, T.; Zinkstok, J.; Manouvrier-Hanu, S.; Fantini, C.; Breviere, G. M.; Di Rosa, G.; Pustorino, G.; Vogels, A.; Swillen, A.; Legallic, S.; Bou, J.; Opolczynski, G.; Drouin-Garraud, V.; Lemarchand, M.; Philip, N.; Gerard-Desplanches, A.; Carlier, M.; Philippe, A.; Nolen, M. C.; Heron, D.; Sarda, P.; Lacombe, D.; Coizet, C.; Alembik, Y.; Layet, V.; Afenjar, A.; Hannequin, D.; Demily, C.; Petit, M.; Thibaut, F.; Frebourg, T.; Campion, D. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum. Mol. Genet., 2007, 16(1), 83-91.
55. Shashi, V.; Veerapandiyan, A.; Keshavan, M. S.; Zapadka, M.; Schoch, K.; Kwapil, T. R.; Hooper, S. R.; Stanley, J. A. Altered Development of the Dorsolateral Prefrontal Cortex in Chromosome 22q11.2 Deletion Syndrome: An In vivo Proton Spectroscopy Study. Biol. Psychiatry, 2012, in press.
56. 123I]CNS-1261 binding to N-methyl-D-aspartate receptors in vivo. Biol. Psychiatry, 2005, 58(1), 41-46.
57. 11C-ABP688, a PET tracer for mGluR5. Nucl. Med. Biol., 2010, 37(7), 845-851.
58. Bearden, C. E.; van Erp, T. G.; Dutton, R. A.; Lee, A. D.; Simon, T. J.; Cannon, T. D.; Emanuel, B. S.; McDonald-McGinn, D.; Zackai, E. H.; Thompson, P. M. Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb. Cortex, 2009, 19(1), 115-126.
59. Campbell, L. E.; Daly, E.; Toal, F.; Stevens, A.; Azuma, R.; Catani, M.; Ng, V.; van, A. T.; Chitnis, X.; Cutter, W.; Murphy, D. G.; Murphy, K. C. Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain, 2006, 129(Pt 5), 1218-1228.
60. Shashi, V.; Muddasani, S.; Santos, C. C.; Berry, M. N.; Kwapil, T. R.; Lewandowski, E.; Keshavan, M. S. Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome. Neuroimage., 2004, 21(4), 1399-1406.
61. van Amelsvoort, T.; Daly, E.; Robertson, D.; Suckling, J.; Ng, V.; Critchley, H.; Owen, M. J.; Henry, J.; Murphy, K. C.; Murphy, D. G. Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome. Br. J. Psychiatry, 2001, 178, 412-419.
62. Beaton, E. A.; Qin, Y.; Nguyen, V.; Johnson, J.; Pinter, J. D.; Simon, T. J. Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome. Psychiatry Res., 2010, 181(2), 108-113.
63. Filipovic, B.; Kovacevic, S.; Stojicic, M.; Prostran, M.; Filipovic, B. Morphological differences among cavum septi pellucidi obtained in patients with schizophrenia and healthy individuals: forensic implications. A post-mortem study. Psychiatry Clin. Neurosci., 2005, 59(1), 106-108.
64. Machado, A. M.; Simon, T. J.; Nguyen, V.; McDonald-McGinn, D. M.; Zackai, E. H.; Gee, J. C. Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res., 2007, 1131(1), 197-210.
65. Antshel, K. M.; Conchelos, J.; Lanzetta, G.; Fremont, W.; Kates, W. R. Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome). Psychiatry Res., 2005, 138(3), 235-245.
66. Bish, J. P.; Pendyal, A.; Ding, L.; Ferrante, H.; Nguyen, V.; Donald-McGinn, D.; Zackai, E.; Simon, T. J. Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Neurosci. Lett., 2006, 399(3), 245-248.
67. Drew, L. J.; Crabtree, G. W.; Markx, S.; Stark, K. L.; Chaverneff, F.; Xu, B.; Mukai, J.; Fenelon, K.; Hsu, P. K.; Gogos, J. A.; Karayiorgou, M. The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int. J. Dev. Neurosci., 2011, 29(3), 259-281.
68. Eliez, S.; Barnea-Goraly, N.; Schmitt, J. E.; Liu, Y.; Reiss, A. L. Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2). Biol. Psychiatry, 2002, 52(1), 68-70.
69. Bish, J. P.; Nguyen, V.; Ding, L.; Ferrante, S.; Simon, T. J. Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Neuroreport, 2004, 15(9), 1413-1415.
70. van Amelsvoort, T.; Daly, E.; Henry, J.; Robertson, D.; Ng, V.; Owen, M.; Murphy, K. C.; Murphy, D. G. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Arch. Gen. Psychiatry, 2004, 61(11), 1085-1096.
71. Eliez, S.; Antonarakis, S. E.; Morris, M. A.; Dahoun, S. P.; Reiss, A. L. Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Arch. Gen. Psychiatry, 2001, 58(1), 64-68.
72. Baker, K.; Chaddock, C. A.; Baldeweg, T.; Skuse, D. Neuroanatomy in adolescents and young adults with 22q11 deletion syndrome: comparison to an IQ-matched group. Neuroimage., 2011, 55(2), 491-499.
73. Eliez, S.; Schmitt, J. E.; White, C. D.; Reiss, A. L. Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. Am. J. Psychiatry, 2000, 157(3), 409-415.
74. Eliez, S.; Blasey, C. M.; Schmitt, E. J.; White, C. D.; Hu, D.; Reiss, A. L. Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am. J. Psychiatry, 2001, 158(3), 447-453.
75. Kates, W. R.; Burnette, C. P.; Jabs, E. W.; Rutberg, J.; Murphy, A. M.; Grados, M.; Geraghty, M.; Kaufmann, W. E.; Pearlson, G. D. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biol. Psychiatry, 2001, 49(8), 677-684.
76. Kates, W. R.; Burnette, C. P.; Bessette, B. A.; Folley, B. S.; Strunge, L.; Jabs, E. W.; Pearlson, G. D. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J. Child Neurol., 2004, 19(5), 337-342.
77. Frangou, S.; Chitins, X.; Williams, S. C. Mapping IQ and gray matter density in healthy young people. Neuroimage., 2004, 23(3), 800-805.
78. Wilke, M.; Sohn, J. H.; Byars, A. W.; Holland, S. K. Bright spots: correlations of gray matter volume with IQ in a normal pediatric population. Neuroimage., 2003, 20(1), 202-215.
79. Campbell, L. E.; Stevens, A.; Daly, E.; Toal, F.; Azuma, R.; Karmiloff-Smith, A.; Murphy, D. G.; Murphy, K. C. A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia, 2009, 47(4), 1034-1044.
80. Srivastava, S.; Buonocore, M. H.; Simon, T. J. Atypical developmental trajectory of functionally significant cortical areas in children with chromosome 22q11.2 deletion syndrome. Hum. Brain Mapp., 2012, 33(1), 213-223.
81. Schaer, M.; Eric, S. J.; 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 Res., 2006, 146(1), 1-11.
82. Schaer, M.; Cuadra, M. B.; Tamarit, L.; Lazeyras, F.; Eliez, S.; Thiran, J. P. A surface-based approach to quantify local cortical gyrification. IEEE Trans. Med. Imaging, 2008, 27(2), 161-170.
83. Schaer, M.; Glaser, B.; Cuadra, M. B.; Debbane, M.; Thiran, J. P.; Eliez, S. Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome. Dev. Med. Child Neurol., 2009, 51(9), 746-753.
84. Kunwar, A.; Ramanathan, S.; Nelson, J.; Antshel, K. M.; Fremont, W.; Higgins, A. M.; Shprintzen, R. J.; Kates, W. R. Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: A longitudinal study. Schizophr. Res., 2012, 137(1-3), 20-25.
85. Robin, N. H.; Taylor, C. J.; McDonald-McGinn, D. M.; Zackai, E. H.; Bingham, P.; Collins, K. J.; Earl, D.; Gill, D.; Granata, T.; Guerrini, R.; Katz, N.; Kimonis, V.; Lin, J. P.; Lynch, D. R.; Mohammed, S. N.; Massey, R. F.; McDonald, M.; Rogers, R. C.; Splitt, M.; Stevens, C. A.; Tischkowitz, M. D.; Stoodley, N.; Leventer, R. J.; Pilz, D. T.; Dobyns, W. B. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am. J. Med. Genet. A, 2006, 140(22), 2416-2425.
86. Gothelf, D.; Eliez, S.; Thompson, T.; Hinard, C.; Penniman, L.; Feinstein, C.; Kwon, H.; Jin, S.; Jo, B.; Antonarakis, S. E.; Morris, M. A.; Reiss, A. L. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 2005, 8(11), 1500-1502.
87. van Amelsvoort, T.; Zinkstok, J.; Figee, M.; Daly, E.; Morris, R.; Owen, M. J.; Murphy, K. C.; de Haan, L.; Linszen, D. H.; Glaser, B.; Murphy, D. G. Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome. Psychol. Med., 2008, 38(1), 89-100.
88. Kates, W. R.; Antshel, K. M.; Abdulsabur, N.; Colgan, D.; Funke, B.; Fremont, W.; Higgins, A. M.; Kucherlapati, R.; Shprintzen, R. J. A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome). Am. J. Med. Genet. B Neuropsychiatr. Genet., 2006, 141B, 274-280.
89. 108/158 Met polymorphism, gender and symptomatology. J. Psychopharmacol., 2011, 25(7), 888-895.
90. Coman, I. L.; Gnirke, M. H.; Middleton, F. A.; Antshel, K. M.; Fremont, W.; Higgins, A. M.; Shprintzen, R. J.; Kates, W. R. The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study. Neuroimage., 2010, 53(3), 1043-1050.
91. Tunbridge, E. M.; Harrison, P. J. Importance of the COMT gene for sex differences in brain function and predisposition to psychiatric disorders. Curr. Top. Behav. Neurosci., 2011, 8, 119-140.
92. Antshel, K. M.; Abdulsabur, N.; Roizen, N.; Fremont, W.; Kates, W. R. Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS). Dev. Neuropsychol., 2005, 28(3), 849-869.
93. Kates, W. R.; Antshel, K.; Willhite, R.; Bessette, B. A.; Abdulsabur, N.; Higgins, A. M. Gender-moderated dorsolateral prefrontal reductions in 22q11.2 Deletion Syndrome: implications for risk for schizophrenia. Child Neuropsychol., 2005, 11(1), 73-85.
94. Bearden, C. E.; van Erp, T. G.; Monterosso, J. R.; Simon, T. J.; Glahn, D. C.; Saleh, P. A.; Hill, N. M.; Donald-McGinn, D. M.; Zackai, E.; Emanuel, B. S.; Cannon, T. D. Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase., 2004, 10(3), 198-206.
95. Deboer, T.; Wu, Z.; Lee, A.; Simon, T. J. Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behav. Brain Funct., 2007, 3, 54.
96. Antshel, K. M.; Peebles, J.; Abdulsabur, N.; Higgins, A. M.; Roizen, N.; Shprintzen, R.; Fremont, W. P.; Nastasi, R.; Kates, W. R. Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. Dev. Neuropsychol., 2008, 33(5), 601-622.
97. Shashi, V.; Kwapil, T. R.; Kaczorowski, J.; Berry, M. N.; Santos, C. S.; Howard, T. D.; Goradia, D.; Prasad, K.; Vaibhav, D.; Rajarethinam, R.; Spence, E.; Keshavan, M. S. Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome. Psychiatry Res., 2010, 181(1), 1-8.
98. 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(12), 2986-2992.
99. Bearden, C. E.; van Erp, T. G.; Dutton, R. A.; Tran, H.; Zimmermann, L.; Sun, D.; Geaga, J. A.; Simon, T. J.; Glahn, D. C.; Cannon, T. D.; Emanuel, B. S.; Toga, A. W.; Thompson, P. M. Mapping cortical thickness in children with 22q11.2 deletions. Cereb. Cortex, 2007, 17(8), 1889-1898.
100. Schaer, M.; Debbane, M.; Bach, C. M.; Ottet, M. C.; Glaser, B.; Thiran, J. P.; Eliez, S. Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study. Schizophr. Res., 2009, 115(2-3), 182-190.
101. Kates, W. R.; Miller, A. M.; Abdulsabur, N.; Antshel, K. M.; Conchelos, J.; Fremont, W.; Roizen, N. Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome). J. Am. Acad. Child Adolesc. Psychiatry, 2006, 45(5), 587-595.
102. Chow, E. W.; Ho, A.; Wei, C.; Voormolen, E. H.; Crawley, A. P.; Bassett, A. S. Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus. Am. J. Psychiatry, 2011, 168(5), 522-529.
103. Honea, R.; Crow, T. J.; Passingham, D.; Mackay, C. E. Regional deficits in brain volume in schizophrenia: a meta-analysis of voxel-based morphometry studies. Am. J. Psychiatry, 2005, 162(12), 2233-2245.
104. Baiano, M.; David, A.; Versace, A.; Churchill, R.; Balestrieri, M.; Brambilla, P. Anterior cingulate volumes in schizophrenia: a systematic review and a meta-analysis of MRI studies. Schizophr. Res., 2007, 93(1-3), 1-12.
105. Gothelf, D.; Penniman, L.; Gu, E.; Eliez, S.; Reiss, A. L. Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study. Schizophr. Res., 2007, 96(1-3), 72-81.
106. Gothelf, D.; Hoeft, F.; Ueno, T.; Sugiura, L.; Lee, A. D.; Thompson, P.; Reiss, A. L. Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome. J. Psychiatr. Res., 2011, 45(3), 322-331.
107. Kates, W. R.; Bansal, R.; Fremont, W.; Antshel, K. M.; Hao, X.; Higgins, A. M.; Liu, J.; Shprintzen, R. J.; Peterson, B. S. Mapping cortical morphology in youth with velocardiofacial (22q11.2 deletion) syndrome. J. Am. Acad. Child Adolesc. Psychiatry, 2011, 50(3), 272-282.
108. Kates, W. R.; Antshel, K. M.; Faraone, S. V.; Fremont, W. P.; Higgins, A. M.; Shprintzen, R. J.; Botti, J. A.; Kelchner, L.; McCarthy, C. Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. Biol. Psychiatry, 2011, 69(10), 945-952.
109. Thomason, M. E.; Thompson, P. M. Diffusion imaging, white matter, and psychopathology. Annu. Rev. Clin. Psychol., 2011, 7, 63-85.
110. Carletti, F.; Woolley, J. B.; Bhattacharyya, S.; Perez-Iglesias, R.; Fusar, P. P.; Valmaggia, L.; Broome, M. R.; Bramon, E.; Johns, L.; Giampietro, V.; Williams, S. C.; Barker, G. J.; McGuire, P. K. Alterations in White Matter Evident Before the Onset of Psychosis. Schizophr. Bull., 2012, in press.
111. Vorstman, J. A.; Chow, E. W.; Ophoff, R. A.; van, E. H.; Beemer, F. A.; Kahn, R. S.; Sinke, R. J.; Bassett, A. S. Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2009, 150B(3), 430-433.
112. Jungerius, B. J.; Hoogendoorn, M. L.; Bakker, S. C.; Van't Slot, R.; Bardoel, A. F.; Ophoff, R. A.; Wijmenga, C.; Kahn, R. S.; Sinke, R. J. An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia. Mol. Psychiatry, 2008, 13(11), 1060-1068.
113. Kanahara, N.; Iyo, M.; Hashimoto, K. Failure to confirm the association between the PIK4CA gene and schizophrenia in a Japanese population. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2009, 150B(3), 450-452.
114. Ikeda, M.; Williams, N.; Williams, H. J.; Smith, R.; Monks, S.; Owen, M. J.; Murphy, K. C.; O'Donovan, M. C. Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2010, 153B(4), 980-982.
115. Barnea-Goraly, N.; Menon, V.; Krasnow, B.; Ko, A.; Reiss, A.; Eliez, S. Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. Am. J. Psychiatry, 2003, 160(10), 1863-1869.
116. Sundram, F.; Campbell, L. E.; Azuma, R.; Daly, E.; Bloemen, O. J.; Barker, G. J.; Chitnis, X.; Jones, D. K.; van Amelsvoort, T.; Murphy, K. C.; Murphy, D. G. White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents. J. Neurodev. Disord., 2010, 2(2), 77-92.
117. Barnea-Goraly, N.; Eliez, S.; Menon, V.; Bammer, R.; Reiss, A. L. Arithmetic ability and parietal alterations: a diffusion tensor imaging study in velocardiofacial syndrome. Brain Res. Cogn Brain Res., 2005, 25(3), 735-740.
118. da Silva Alves, F.; Schmitz, N.; Bloemen, O.; van der Meer, J.; Meijer, J.; Boot, E.; Nederveen, A.; de Haan, L.; Linszen, D.; van Amelsvoort, T. White matter abnormalities in adults with 22q11 deletion syndrome with and without schizophrenia. Schizophr. Res., 2011, 132(1), 75-83.
119. Simon, T. J.; Wu, Z.; Avants, B.; Zhang, H.; Gee, J. C.; Stebbins, G. T. Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome. Behav. Brain Funct., 2008, 4, 25.
120. Eliez, S.; Blasey, C. M.; Menon, V.; White, C. D.; Schmitt, J. E.; Reiss, A. L. Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). Genet. Med., 2001, 3(1), 49-55.
121. Azuma, R.; Daly, E. M.; Campbell, L. E.; Stevens, A. F.; Deeley, Q.; Giampietro, V.; Brammer, M. J.; Glaser, B.; Ambery, F. Z.; Morris, R. G.; Williams, S. C.; Owen, M. J.; Murphy, D. G.; Murphy, K. C. Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study. J. Neurodev. Disord., 2009, 1(1), 46-60.
122. Gothelf, D.; Hoeft, F.; Hinard, C.; Hallmayer, J. F.; Stoecker, J. V.; Antonarakis, S. E.; Morris, M. A.; Reiss, A. L. Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Hum. Brain Mapp., 2007, 28(6), 533-542.
123. Kates, W. R.; Krauss, B. R.; Abdulsabur, N.; Colgan, D.; Antshel, K. M.; Higgins, A. M.; Shprintzen, R. J. The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). Neuropsychologia, 2007, 45(12), 2863-2873.
124. van Amelsvoort, T. A.; Schmitz, N.; Daly, E.; Deeley, Q.; Critchley, H.; Henry, J.; Robertson, D.; Owen, M.; Murphy, K. C.; Murphy, D. G. Processing facial emotions in adults with velo-cardio-facial syndrome: functional magnetic resonance imaging. Br. J. Psychiatry, 2006, 189, 560-561.
125. Andersson, F.; Glaser, B.; Spiridon, M.; Debbane, M.; Vuilleumier, P.; Eliez, S. Impaired activation of face processing networks revealed by functional magnetic resonance imaging in 22q11.2 deletion syndrome. Biol. Psychiatry, 2008, 63(1), 49-57.
126. Schneider, M.; Debbane, M.; Lagioia, A.; Salomon, R.; d'Argembeau, A.; Eliez, S. Comparing the neural bases of self-referential processing in typically developing and 22q11.2 adolescents. Dev. Cogn Neurosci., 2012, 2(2), 277-289.
127. van der Meer, L.; Costafreda, S.; Aleman, A.; David, A. S. Self-reflection and the brain: a theoretical review and meta-analysis of neuroimaging studies with implications for schizophrenia. Neurosci. Biobehav. Rev., 2010, 34(6), 935-946.
128. Navari, S.; Dazzan, P. Do antipsychotic drugs affect brain structure? A systematic and critical review of MRI findings. Psychol. Med., 2009, 39(11), 1763-1777.
129. Raznahan, A.; Shaw, P.; Lalonde, F.; Stockman, M.; Wallace, G. L.; Greenstein, D.; Clasen, L.; Gogtay, N.; Giedd, J. N. How does your cortex grow? J. Neurosci., 2011, 31(19), 7174-7177.
130. Borgwardt, S. J.; Picchioni, M. M.; Ettinger, U.; Toulopoulou, T.; Murray, R.; McGuire, P. K. Regional gray matter volume in monozygotic twins concordant and discordant for schizophrenia. Biol. Psychiatry, 2010, 67(10), 956-964.
131. Borgwardt, S.; McGuire, P.; Fusar-Poli, P. Gray matters!--mapping the transition to psychosis. Schizophr. Res., 2011, 133(1-3), 63-67.
132. Borgwardt, S.; Fusar-Poli, P. Third-generation neuroimaging in early schizophrenia: translating research evidence into clinical utility. Br. J. Psychiatry, 2012, 200(4), 270-272.