Neuroanatomy in adolescents and young adults with 22q11 Deletion Syndrome: Comparison to an IQ-matched group

NeuroImage

Volumn 55, Issue 2, 2011, Pages 491-499

  Baker, Kate ^a   Chaddock, Christopher A ^a,b   Baldeweg, Torsten ^a   Skuse, David ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

22q11 deletion syndrome; Learning disability; Magnetic resonance imaging; Schizophrenia; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN MATURATION; BRAIN SIZE; CEREBELLUM; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; GRAY MATTER; HIPPOCAMPUS; HUMAN; INSULA; INTELLIGENCE QUOTIENT; LEARNING DISORDER; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PARIETAL LOBE; PRIORITY JOURNAL; SUPERIOR TEMPORAL GYRUS; TEMPORAL LOBE; VOXEL BASED MORPHOMETRY; WHITE MATTER;

22Q11 DELETION SYNDROME; ADOLESCENT; BRAIN; FEMALE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INTELLIGENCE; MAGNETIC RESONANCE IMAGING; MALE; YOUNG ADULT;

EID: 79551613336     PISSN: 10538119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroimage.2010.12.041     Document Type: Article

References (66)

1. Antshel K.M., Fremont W., Roizen N.J., Shprintzen R., Higgins A.M., Dhamoon A., et al. ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. J. Am. Acad. Child Adolesc. Psychiatry 2006, 45:596-603.
2. Antshel K.M., Fremont W., Kates W.R. The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev. Disabil. Res. Rev. 2008, 14:43-51.
3. Aylward E.H., Sparks B.F., Field K.M., Yallapragada V., Shpritz B.D., Rosenblatt A., et al. Onset and rate of striatal atrophy in preclinical Huntington disease. Neurology 2004, 63:66-72.
4. Baker K.D., Skuse D.H. Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br. J. Psychiatry 2005, 186:115-120.
5. Baker K., Baldeweg T., Sivagnanasundaram S., Scambler P., Skuse D. COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biol. Psychiatry 2005, 58:23-31.
6. Borgwardt S.J., McGuire P.K., Aston J., Berger G., Dazzan P., Gschwandtner U., et al. Structural brain abnormalities in individuals with an at-risk mental state who later develop psychosis. Br. J. Psychiatry Suppl. 2007, 51:s69-s75.
7. Boos H.B., Aleman A., Cahn W., Hulshoff P.H., Kahn R.S. Brain volumes in relatives of patients with schizophrenia: a meta-analysis. Arch. Gen. Psychiatry 2007, 64:297-304.
8. Botto L.D., May K., Fernhoff P.M., Correa A., Coleman K., Rasmussen S.A., et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003, 112:101-107.
9. Campbell L.E., 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.
10. Campbell L.E., Stevens A., Daly E., Toal F., Azuma R., Karmiloff-Smith A., et al. A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia 2009, 47:1034-1044.
11. 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, 51:208-215.
12. Crawford J.R., Allan K.M., Jack A.M. Short-forms of the UK WAIS-R: regression equations and their predictive validity in a general population sample. Br. J. Clin. Psychol. 1992, 31(Pt 2):191-202.
13. Debbane M., Glaser B., David M.K., Feinstein C., Eliez S. Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: neuropsychological and behavioral implications. Schizophr. Res. 2006, 84:187-193.
14. Debbane M., Schaer M., Farhoumand R., Glaser B., Eliez S. Hippocampal volume reduction in 22q11.2 deletion syndrome. Neuropsychologia 2006, 44:2360-2365.
15. 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.
16. Deichmann R., Schwarzbauer C., Turner R. Optimisation of the 3D MDEFT sequence for anatomical brain imaging: technical implications at 1.5 and 3T. Neuroimage 2004, 21:757-767.
17. Diedrichsen J. A spatially unbiased atlas template of the human cerebellum. Neuroimage 2006, 33:127-138.
18. Dykens E.M. Psychiatric and behavioral disorders in persons with Down syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 2007, 13:272-278.
19. Eisenberg D.P., Jabbi M. Bridging the gene-behavior divide through neuroimaging deletion syndromes: velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes. Neuroimage 2010, 53(3):857-869. Nov 15.
20. 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, 157:409-415.
21. 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, 158:447-453.
22. Ellison-Wright I., Glahn D.C., Laird A.R., Thelen S.M., Bullmore E. The anatomy of first-episode and chronic schizophrenia: an anatomical likelihood estimation meta-analysis. Am. J. Psychiatry 2008, 165:1015-1023.
23. Frangou S., Chitins X., Williams S.C. Mapping IQ and gray matter density in healthy young people. Neuroimage 2004, 23:800-805.
24. Gogtay N., Lu A., Leow A.D., Klunder A.D., Lee A.D., Chavez A., et al. Three-dimensional brain growth abnormalities in childhood-onset schizophrenia visualized by using tensor-based morphometry. Proc. Natl Acad. Sci. USA 2008, 105:15979-15984.
25. Gogtay N., Thompson P.M. Mapping gray matter development: implications for typical development and vulnerability to psychopathology. Brain Cogn. 2010, 72:6-15.
26. Gothelf D., Presburger G., Zohar A.H., Burg M., Nahmani A., Frydman M., et al. Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004, 126B:99-105.
27. Gothelf D., Eliez S., Thompson T., Hinard C., Penniman L., Feinstein C., et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci. 2005, 8:1500-1502.
28. Gothelf D., Feinstein C., Thompson T., Gu E., Penniman L., Van S.E., et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am. J. Psychiatry 2007, 164:663-669.
29. 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, 96:72-81.
30. Gothelf D., Schaer M., Eliez S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev. Disabil. Res. Rev. 2008, 14:59-68.
31. Hemmings C.P. Schizophrenia spectrum disorders in people with intellectual disabilities. Curr. Opin. Psychiatry 2006, 19:470-474.
32. Jacobson C., Shearer J., Habel A., Kane F., Tsakanikos E., Kravariti E. Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J. Intellect. Disabil. Res. 2010, 54:701-713.
33. Jansen P.W., Duijff S.N., Beemer F.A., Vorstman J.A., Klaassen P.W., Morcus M.E., et al. Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study. Am. J. Med. Genet. A 2007, 143:574-580.
34. Job D.E., Whalley H.C., McConnell S., Glabus M., Johnstone E.C., Lawrie S.M. Voxel-based morphometry of grey matter densities in subjects at high risk of schizophrenia. Schizophr. Res. 2003, 64:1-13.
35. Job D.E., Whalley H.C., Johnstone E.C., Lawrie S.M. Grey matter changes over time in high risk subjects developing schizophrenia. Neuroimage 2005, 25:1023-1030.
36. 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, 162:2233-2245.
37. Kates W.R., Burnette C.P., Jabs E.W., Rutberg J., Murphy A.M., Grados M., et al. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biol. Psychiatry 2001, 49:677-684.
38. Kates W.R., Miller A.M., AbdulSabur N., Antshel K.M., Conchelos J., Fremont W., et al. Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome). J. Am. Acad. Child Adolesc. Psychiatry 2006, 45:587-595.
39. Karayiorgou M., Simon T.J., Gogos J.A. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat. Rev. Neurosci. 2010, 11:402-416.
40. Kaufman A.S., Kaufman J.C., Balgopal R., McLean J.E. Comparison of three WISC-III short forms weighing psychometric, clinical, and practical factors. J. Clin. Child Psychol. 1996, 25:97-105.
41. Kubicki M., Styner M., Bouix S., Gerig G., Markant D., Smith K., et al. Reduced interhemispheric connectivity in schizophrenia-tractography based segmentation of the corpus callosum. Schizophr. Res. 2008, 106:125-131.
42. Kwok H., Cheung P.W. Co-morbidity of psychiatric disorder and medical illness in people with intellectual disabilities. Curr. Opin. Psychiatry 2007, 20:443-449.
43. Levitt J.G., Blanton R.E., Caplan R., Asarnow R., Guthrie D., Toga A.W., et al. Medial temporal lobe in childhood-onset schizophrenia. Psychiatry Res. 2001, 108:17-27.
44. Mai J.K., Assheuer J., Paxinos G. Atlas of the Human Brain 1997, Academic Press.
45. Machado A.M., Simon T.J., Nguyen V., Donald-McGinn D.M., Zackai E.H., Gee J.C. Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res. 2007, 1131:197-210.
46. McDonald C., Dineen B., Hallahan B. Meta-analysis of brain volumes in unaffected first-degree relatives of patients with schizophrenia overemphasizes hippocampal deficits. Arch. Gen. Psychiatry 2008, 65:603-604.
47. McIntosh A.M., Job D.E., Moorhead T.W., Harrison L.K., Lawrie S.M., Johnstone E.C. White matter density in patients with schizophrenia, bipolar disorder and their unaffected relatives. Biol. Psychiatry 2005, 58:254-257.
48. Mori S., Wakana S., Nagae-Poetscher L.M., van Zijl P.C.M. MRI Atlas of Human White Matter 2005, Elsevier B.V.
49. Murphy K.C., Jones R.G., Griffiths E., Thompson P.W., Owen M.J. Chromosome 22qII deletions. An under-recognised cause of idiopathic learning disability. Br. J. Psychiatry 1998, 172:180-183.
50. Murphy K.C., Jones L.A., Owen M.J. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry 1999, 56:940-945.
51. Pantelis C., Yucel M., Wood S.J., McGorry P.D., Velakoulis D. Early and late neurodevelopmental disturbances in schizophrenia and their functional consequences. Aust. NZ J. Psychiatry 2003, 37:399-406.
52. Ryan A.K., Goodship J.A., Wilson D.I., Philip N., Levy A., Seidel H., et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 1997, 34:798-804.
53. Schaer M., Debbane M., Bach C.M., Ottet M.C., Glaser B., Thiran J.P., et al. Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study. Schizophr. Res. 2009, 115:182-190.
54. Schneider A., Hagerman R.J., Hessl D. Fragile X syndrome - from genes to cognition. Dev. Disabil. Res. Rev. 2009, 15:333-342.
55. Shashi V., Kwapil T.R., Kaczorowski J., Berry M.N., Santos C.S., Howard T.D., et al. Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome. Psychiatry Res. 2010, 181:1-8.
56. Shprintzen R.J., Goldberg R., Golding-Kushner K.J., Marion R.W. Late-onset psychosis in the velo-cardio-facial syndrome. Am. J. Med. Genet. 1992, 42:141-142.
57. Simon T.J., Bish J.P., Bearden C.E., Ding L., Ferrante S., Nguyen V., et al. A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev. Psychopathol. 2005, 17:753-784.
58. Stoddard J., Niendam T., Hendren R., Carter C., Simon T.J. Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophr. Res. 2010, 118:118-121.
59. 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, 115:173-181.
60. 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. Br. J. Psychiatry 2001, 178:412-419.
61. 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. Arch. Gen. Psychiatry 2004, 61:1085-1096.
62. Vorstman J.A., Morcus M.E., Duijff S.N., Klaassen P.W., Heineman-de Boer J.A., Beemer F.A., et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J. Am. Acad. Child Adolesc. Psychiatry 2006, 45:1104-1113.
63. Weschler D. The Wechsler Adult Intelligence Scale-Revised 1981, Psychological Corporation, New York.
64. Weschler D. Weschler Intelligence Scale for Children 1992, The Psychological Corporation. 3rd UK ed.
65. Wing J.K., Babor T., Brugha T., Burke J., Cooper J.E., Giel R., et al. SCAN. Schedules for Clinical Assessment in Neuropsychiatry. Arch. Gen. Psychiatry 1990, 47:589-593.
66. Whitford T.J., Kubicki M., Schneiderman J.S., O'Donnell L.J., King R., Alvarado J.L., et al. Corpus callosum abnormalities and their association with psychotic symptoms in patients with schizophrenia. Biol. Psychiatry 2010, 68:70-77.