Journal of Neural Transmission

, Volume 123, Issue 8, pp 823–839 | Cite as

Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome

Psychiatry and Preclinical Psychiatric Studies - Review Article

Abstract

Patients affected by 22q11.2 deletion syndrome (22q11DS) present a characteristic cognitive and psychiatric profile and have a genetic predisposition to develop schizophrenia. Although brain morphological alterations have been shown in the syndrome, they do not entirely account for the complex clinical picture of the patients with 22q11DS and for their high risk of psychotic symptoms. Since Friston proposed the “disconnection hypothesis” in 1998, schizophrenia is commonly considered as a disorder of brain connectivity. In this study, we review existing evidence pointing to altered brain structural and functional connectivity in 22q11DS, with a specific focus on the role of dysconnectivity in the emergence of psychotic symptoms. We show that widespread alterations of structural and functional connectivity have been described in association with 22q11DS. Moreover, alterations involving long-range association tracts as well as midline structures, such as the corpus callosum and the cingulate gyrus, have been associated with psychotic symptoms in this population. These results suggest common mechanisms for schizophrenia in syndromic and non-syndromic populations. Future directions for investigations are also discussed.

Keywords

Velo-cardio-facial syndrome Connectivity DTI Resting-state fMRI Schizophrenia 

Notes

Acknowledgements

This work is supported by the National Center of Competence in Research (NCCR) Synapsy-The Synaptic Bases of Mental Diseases (SNF) and by grants of the Swiss National Foundation to S. Eliez (324730_121996 and 324730_144260). Individual fellowships from the Swiss National Foundation of Science support Marie Schaer (#145760) and Elisa Scariati (#145250). We would like to thank Angeline Mihailov for the manuscript proof reading.

Compliance with ethical standards

Conflict of interest

The authors have no conflict of interest to report.

References

  1. Radoeva PD et al (2012) Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings Behavioral and Brain Functions 8Google Scholar
  2. Mlynarski Elisabeth E et al (2015) Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome The American Journal of Human Genetics. 96:753–764. doi: 10.1016/j.ajhg.2015.03.007
  3. Allen P, Larøi F, McGuire PK, Aleman A (2008) The hallucinating brain: a review of structural and functional neuroimaging studies of hallucinations. Neurosci Biobehav Rev 32:175–191. doi: 10.1016/j.neubiorev.2007.07.012 CrossRefPubMedGoogle Scholar
  4. Antshel KM, Conchelos J, Lanzetta G, Fremont W, Kates WR (2005) Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome). Psychiatry Res 138:235–245. doi: 10.1016/j.pscychresns.2005.02.003 CrossRefPubMedGoogle Scholar
  5. Antshel KM, Fremont W, Kates WR (2008) The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev Disabil Res Rev 14:43–51. doi: 10.1002/ddrr.7 CrossRefPubMedGoogle Scholar
  6. Armitage PA, Bastin ME (2000) Selecting an appropriate anisotropy index for displaying diffusion tensor imaging data with improved contrast and sensitivity. Magn Reson Med 44:117–121. doi: 10.1002/1522-2594(200007)44:1<117:AID-MRM17>3.0.CO;2-D CrossRefPubMedGoogle Scholar
  7. Bammer R, Acar B, Moseley ME (2003) In vivo MR tractography using diffusion imaging. Eur J Radiol 45:223–234. doi: 10.1016/S0720-048X(02)00311-X CrossRefPubMedGoogle Scholar
  8. Barnea-Goraly N, Menon V, Krasnow B, Ko A, Reiss A, Eliez S (2003) Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. Am J Psychiatry 160:1863–1869CrossRefPubMedGoogle Scholar
  9. Barnea-Goraly N, Eliez S, Menon V, Bammer R, Reiss AL (2005) Arithmetic ability and parietal alterations: a diffusion tensor imaging study in velocardiofacial syndrome. Brain Res Cogn Brain Res 25:735–740. doi: 10.1016/j.cogbrainres.2005.09.013 CrossRefPubMedGoogle Scholar
  10. Basser PJ, Mattiello J, LeBihan D (1994) MR diffusion tensor spectroscopy and imaging. Biophys J 66:259–267CrossRefPubMedPubMedCentralGoogle Scholar
  11. Bassett A, Chow E (1999) 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry 46:882–891CrossRefPubMedPubMedCentralGoogle Scholar
  12. Bassett AS et al (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159(332–339):e331. doi: 10.1016/j.jpeds.2011.02.039 Google Scholar
  13. Biswal B, Yetkin F, Haughton V, Hyde J (1995) Functional connectivity in the motor cortex of resting human brain using echo-planar MRI. Magn Reson Med 34:537–541CrossRefPubMedGoogle Scholar
  14. Bleuler E (1911) Dementia praecox or the group of schizophrenias. 9International Universities Press, New YorkGoogle Scholar
  15. Britz J, Van De Ville D, Michel CM (2010) BOLD correlates of EEG topography reveal rapid resting-state network dynamics. Neuroimage 52:1162–1170. doi: 10.1016/j.neuroimage.2010.02.052 CrossRefPubMedGoogle Scholar
  16. Budde MD, Xie M, Cross AH, Song SK (2009) Axial diffusivity is the primary correlate of axonal injury in the experimental autoimmune encephalomyelitis spinal cord: a quantitative pixelwise analysis. J Neurosci 29:2805–2813. doi: 10.1523/jneurosci.4605-08.2009 CrossRefPubMedPubMedCentralGoogle Scholar
  17. Bush G, Luu P, Posner MI (2000) Cognitive and emotional influences in anterior cingulate cortex. Trends Cognit Sci 4:215–222. doi: 10.1016/S1364-6613(00)01483-2 CrossRefGoogle Scholar
  18. Cahoon G (2011) Techniques in pediatric MRI—tips for imaging children MAGNETOM FlashGoogle Scholar
  19. Calhoun VD, Liu J, Adalı T (2009) A review of group ICA for fMRI data and ICA for joint inference of imaging, genetic, and ERP data. NeuroImage S45:S163–S172. doi: 10.1016/j.neuroimage.2008.10.057 CrossRefGoogle Scholar
  20. Campbell L et al (2010) Executive functions and memory abilities in children with 22q11.2 deletion syndrome. J Psychiatry 44:364–371Google Scholar
  21. Campbell LE, McCabe KL, Melville JL, Strutt PA, Schall U (2015) Social cognition dysfunction in adolescents with 22q11.2 deletion syndrome (velo-cardio-facial syndrome): relationship with executive functioning and social competence/functioning. J Intellect Disabil Res 59:845–859. doi: 10.1111/jir.12183 CrossRefPubMedGoogle Scholar
  22. Canu E, Agosta F, Filippi M (2015) A selective review of structural connectivity abnormalities of schizophrenic patients at different stages of the disease. Schizophr Res 161:19–28. doi: 10.1016/j.schres.2014.05.020 CrossRefPubMedGoogle Scholar
  23. Chung Y, Cannon TD (2015) Brain imaging during the transition from psychosis prodrome to schizophrenia. J Nerv Ment Dis 203:336–341. doi: 10.1097/NMD.0000000000000286 CrossRefPubMedPubMedCentralGoogle Scholar
  24. Crossley NA, Mechelli A, Scott J, Carletti F, Fox PT, McGuire P, Bullmore ET (2014) The hubs of the human connectome are generally implicated in the anatomy of brain disorders. Brain 137:2382–2395. doi: 10.1093/brain/awu132 CrossRefPubMedPubMedCentralGoogle Scholar
  25. da Silva Alves F et al (2011) White matter abnormalities in adults with 22q11 deletion syndrome with and without schizophrenia. Schizophr Res 132:75–83. doi: 10.1016/j.schres.2011.07.017 CrossRefGoogle Scholar
  26. Debbane M, Van der Linden M, Glaser B, Eliez S (2008) Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS). Psychol Med 38:811–820. doi: 10.1017/S003329170700222X CrossRefPubMedGoogle Scholar
  27. Debbane M, Van der Linden M, Glaser B, Eliez S (2010) Monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome. Br J Clin Psychol 49:373–386. doi: 10.1348/014466509X468223 CrossRefPubMedGoogle Scholar
  28. Debbane M, Lazouret M, Lagioia A, Schneider M, Van De Ville D, Eliez S (2012) Resting-state networks in adolescents with 22q11.2 deletion syndrome: associations with prodromal symptoms and executive functions. Schizophr Res 139:33–39. doi: 10.1016/j.schres.2012.05.021 CrossRefPubMedGoogle Scholar
  29. Deng Y et al (2015) Disrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome. Psychiatry Res 232:106–114. doi: 10.1016/j.pscychresns.2015.02.002 CrossRefPubMedPubMedCentralGoogle Scholar
  30. Dufour F, Schaer M, Debbané M, Farhoumand R, Glaser B, Eliez S (2008) Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome. Neuropsychologia 46:2986–2992. doi: 10.1016/j.neuropsychologia.2008.06.012 CrossRefPubMedGoogle Scholar
  31. Ellison-Wright I, Bullmore E (2010) Anatomy of bipolar disorder and schizophrenia: a meta-analysis. Schizophrenia Research 117:1–12. doi: 10.1016/j.schres.2009.12.022
  32. Focke NK et al (2011) Multi-site voxel-based morphometry—not quite there yet. NeuroImage 56:1164–1170. doi: 10.1016/j.neuroimage.2011.02.029 CrossRefPubMedGoogle Scholar
  33. Fornito A, Zalesky A, Pantelis C, Bullmore ET (2012) Schizophrenia, neuroimaging and connectomics. NeuroImage 62:2296–2314. doi: 10.1016/j.neuroimage.2011.12.090 CrossRefPubMedGoogle Scholar
  34. Frith CD (1992) The cognitive neuropsychology of schizophrenia. L Erlbaum, HillsdaleGoogle Scholar
  35. Gothelf D, Penniman L, Gu E, Eliez S, Reiss AL (2007) Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study. Schizophr Res 96:72–81. doi: 10.1016/j.schres.2007.07.021 CrossRefPubMedPubMedCentralGoogle Scholar
  36. Gothelf D, Schaer M, Eliez S (2008) Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev Disabil Res Rev 14:59–68. doi: 10.1002/ddrr.9 CrossRefPubMedGoogle Scholar
  37. Gothelf D, Hoeft F, Ueno T, Sugiura L, Lee AD, Thompson P, Reiss AL (2011) Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome. J Psychiatr Res 45:322–331. doi: 10.1016/j.jpsychires.2010.07.008 CrossRefPubMedPubMedCentralGoogle Scholar
  38. Greicius M (2008) Resting-state functional connectivity in neuropsychiatric disorders. Curr Opin Neurol 21:424–430CrossRefPubMedGoogle Scholar
  39. Griffa A, Baumann PS, Ferrari C, Do KQ, Conus P, Thiran J-P, Hagmann P (2015) Characterizing the connectome in schizophrenia with diffusion spectrum imaging. Hum Brain Mapp 36:354–366. doi: 10.1002/hbm.22633 CrossRefPubMedGoogle Scholar
  40. Guo T et al (2011) Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 32:1278–1289. doi: 10.1002/humu.21568 CrossRefPubMedPubMedCentralGoogle Scholar
  41. Hagmann P (2005) From diffusion MRI to brain connectomics Doctoral thesis, École Polytechnique Fédérale (EPFL). Lausanne, SwitzerlandGoogle Scholar
  42. Hagmann P, Thiran JP, Jonasson L, Vandergheynst P, Clarke S, Maeder P, Meuli R (2003) DTI mapping of human brain connectivity: statistical fibre tracking and virtual dissection. NeuroImage 19:545–554. doi: 10.1016/S1053-8119(03)00142-3 CrossRefPubMedGoogle Scholar
  43. Herman SB et al (2012) Overt cleft palate phenotype and TBX1 genotype correlations in Velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet Part A 158A:2781–2787. doi: 10.1002/ajmg.a.35512 CrossRefPubMedPubMedCentralGoogle Scholar
  44. Hubl D, Koenig T, Strik W et al (2004) Pathways that make voices: white matter changes in auditory hallucinations. Arch Gener Psychiatry 61:658–668. doi: 10.1001/archpsyc.61.7.658 CrossRefGoogle Scholar
  45. Jalbrzikowski M, Jonas R, Senturk D, Patel A, Chow C, Green MF, Bearden CE (2013) Structural abnormalities in cortical volume, thickness, and surface area in 22q11.2 microdeletion syndrome: relationship with psychotic symptoms. NeuroImage Clin 3:405–415. doi: 10.1016/j.nicl.2013.09.013 CrossRefPubMedPubMedCentralGoogle Scholar
  46. Jalbrzikowski M, Villalon-Reina JE, Karlsgodt KH, Senturk D, Chow C, Thompson PM, Bearden CE (2014) Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome. Front Behav Neurosci. doi: 10.3389/fnbeh.2014.00393 PubMedPubMedCentralGoogle Scholar
  47. Jansen PW, Duijff SN, Beemer FA, Vorstman JAS, Klaassen PWJ, Morcus MEJ, Heineman-de Boer JA (2007) Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study. Am J Med Genet Part A 143A:574–580. doi: 10.1002/ajmg.a.31623 CrossRefPubMedGoogle Scholar
  48. Karbasforoushan H, Woodward ND (2012) Resting-State Networks in Schizophrenia. Top Med Chem 12:2404–2414CrossRefGoogle Scholar
  49. Kates WR et al (2011) Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. Biol Psychiatry 69:945–952. doi: 10.1016/j.biopsych.2010.10.027 CrossRefPubMedGoogle Scholar
  50. Kates WR et al (2015) White matter microstructural abnormalities of the cingulum bundle in youths with 22q11.2 deletion syndrome: associations with medication, neuropsychological function, and prodromal symptoms of psychosis. Schizophr Res 161:76–84. doi: 10.1016/j.schres.2014.07.010 CrossRefPubMedGoogle Scholar
  51. Kay SR, Fiszbein A, Opler LA (1987) The positive and negative syndrome scale (PANSS) for schizophrenia. Schizophr Bull 13:261–276CrossRefPubMedGoogle Scholar
  52. Keshavan MS, Tandon R, Boutros NN, Nasrallah HA (2008) Schizophrenia, “just the facts”: what we know in 2008: Part 3: Neurobiology. Schizophr Res 106:89–107. doi: 10.1016/j.schres.2008.07.020 CrossRefPubMedGoogle Scholar
  53. Kikinis Z et al (2012) Reduced fractional anisotropy and axial diffusivity in white matter in 22q11.2 deletion syndrome: a pilot study. Schizophr Res 141:35–39. doi: 10.1016/j.schres.2012.06.032 CrossRefPubMedPubMedCentralGoogle Scholar
  54. Kikinis Z et al (2013) Genetic contributions to changes of fiber tracts of ventral visual stream in 22q11.2 deletion syndrome. Brain Imaging Behav 7:316–325. doi: 10.1007/s11682-013-9232-5 CrossRefPubMedGoogle Scholar
  55. Kiley-Brabeck K, Sobin C (2006) Social skills and executive function deficits in children with the 22q11 Deletion Syndrome. Appl Neuropsychol 13:258–268. doi: 10.1207/s15324826an1304_7 CrossRefPubMedPubMedCentralGoogle Scholar
  56. Latora V, Marchiori M (2001) Efficient behavior of small-world networks. Phys Rev Lett 87:198701CrossRefPubMedGoogle Scholar
  57. Machado AMC, Simon TJ, Nguyen V, McDonald-McGinn DM, Zackai EH, Gee JC (2007) Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res 1131:197–210. doi: 10.1016/j.brainres.2006.10.082 CrossRefPubMedGoogle Scholar
  58. Mazziotta JC, Toga AW, Evans A, Fox P, Lancaster J (1995) A probabilistic atlas of the human brain: theory and rationale for its development: the international consortium for brain mapping (ICBM). NeuroImage 2:89–101. doi: 10.1006/nimg.1995.1012 CrossRefPubMedGoogle Scholar
  59. Menon V (2011) Large-scale brain networks and psychopathology: a unifying triple network model. Trends Cogn Sci 15:483–506. doi: 10.1016/j.tics.2011.08.003 CrossRefPubMedGoogle Scholar
  60. Menon V, Uddin LQ (2010) Saliency, switching, attention and control: a network model of insula function. Brain Struct Funct 214:655–667. doi: 10.1007/s00429-010-0262-0 CrossRefPubMedPubMedCentralGoogle Scholar
  61. Meskaldji DE et al (2011) Adaptive strategy for the statistical analysis of connectomes. PLoS One 6:e23009. doi: 10.1371/journal.pone.0023009 CrossRefPubMedPubMedCentralGoogle Scholar
  62. Mukherjee P, McKinstry RC (2006) Diffusion tensor imaging and tractography of human brain development. Neuroimag Clin N Am 16:19–43. doi: 10.1016/j.nic.2005.11.004 CrossRefGoogle Scholar
  63. Murphy K, Jones L, Owen M (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940–945CrossRefPubMedGoogle Scholar
  64. Murray RJ, Schaer M, Debbané M (2012) Degrees of separation: a quantitative neuroimaging meta-analysis investigating self-specificity and shared neural activation between self- and other-reflection. Neurosci Biobehav Rev 36:1043–1059. doi: 10.1016/j.neubiorev.2011.12.013 CrossRefPubMedGoogle Scholar
  65. Nekovarova T, Fajnerova I, Horacek J, Spaniel F (2014) Bridging disparate symptoms of schizophrenia: a triple network dysfunction theory Front. Behav Neurosci 8:171. doi: 10.3389/fnbeh.2014.00171 Google Scholar
  66. Niklasson L, Gillberg C (2010) The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Res Dev Disabil 31:185–194. doi: 10.1016/j.ridd.2009.09.001 CrossRefPubMedGoogle Scholar
  67. Oskarsdottir S (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Childhood 89:148–151. doi: 10.1136/adc.2003.026880 CrossRefGoogle Scholar
  68. Oskarsdottir S, Persson C, Eriksson BO, Fasth A (2005) Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164:146–153. doi: 10.1007/s00431-004-1577-8 CrossRefPubMedGoogle Scholar
  69. Ottet M-C (2013) Analyzing quantitatively and topologically the white matter organization in 22q11.2DS. Doctoral thesis University of Geneva, Geneva, SwitzerlandGoogle Scholar
  70. Ottet MC, Schaer M, Cammoun L, Schneider M, Debbane M, Thiran JP, Eliez S (2013a) Reduced fronto-temporal and limbic connectivity in the 22q11.2 deletion syndrome: vulnerability markers for developing schizophrenia? PLoS One 8:e58429. doi: 10.1371/journal.pone.0058429 CrossRefPubMedPubMedCentralGoogle Scholar
  71. Ottet MC, Schaer M, Debbane M, Cammoun L, Thiran JP, Eliez S (2013b) Graph theory reveals dysconnected hubs in 22q11DS and altered nodal efficiency in patients with hallucinations. Front Hum Neurosci 7:402. doi: 10.3389/fnhum.2013.00402 CrossRefPubMedPubMedCentralGoogle Scholar
  72. Padula MC, Schaer M, Scariati E, Schneider M, Van De Ville D, Debbané M, Eliez S (2015) Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome. J Neurodev Dis. doi: 10.1186/s11689-015-9120-y Google Scholar
  73. Perlstein MD et al (2014) White matter abnormalities in 22q11.2 deletion syndrome: preliminary associations with the Nogo-66 receptor gene and symptoms of psychosis. Schizophr Res 152:117–123. doi: 10.1016/j.schres.2013.11.015 CrossRefPubMedGoogle Scholar
  74. Raichle ME (2001) Cognitive neuroscience: bold insights. Nature 412:128–130CrossRefPubMedGoogle Scholar
  75. Raichle ME (2009) A paradigm shift in functional brain imaging. J Neurosci 29:12729–12734. doi: 10.1523/JNEUROSCI.4366-09.2009 CrossRefPubMedGoogle Scholar
  76. Rapoport JL, Addington AM, Frangou S (2005) Psych MRC (2005) The neurodevelopmental model of schizophrenia: update. Mol Psychiatry 10:434–449CrossRefPubMedGoogle Scholar
  77. Rosazza C, Minati L (2011) Resting-state brain networks: literature review and clinical applications. Neurol Sci 32:773–785. doi: 10.1007/s10072-011-0636-y CrossRefPubMedGoogle Scholar
  78. Samartzis L, Dima D, Fusar-Poli P, Kyriakopoulos M (2014) White matter alterations in early stages of schizophrenia: a systematic review of diffusion tensor imaging studies. J Neuroimaging 24:101–110. doi: 10.1111/j.1552-6569.2012.00779.x CrossRefPubMedGoogle Scholar
  79. Scariati E, Schaer M, Richiardi J, Schneider M, Debbane M, Van De Ville D, Eliez S (2014) Identifying 22q11.2 deletion syndrome and psychosis using resting-state connectivity patterns. Brain Topogr 27:808–821. doi: 10.1007/s10548-014-0356-8 CrossRefPubMedGoogle Scholar
  80. Schaer M, Debbane M, Bach Cuadra M, Ottet MC, Glaser B, Thiran JP, Eliez S (2009) Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study. Schizophr Res 115:182–190. doi: 10.1016/j.schres.2009.09.016 CrossRefPubMedGoogle Scholar
  81. Schneider M, Debbane M, Lagioia A, Salomon R, d’Argembeau A, Eliez S (2012) Comparing the neural bases of self-referential processing in typically developing and 22q11.2 adolescents. Dev Cogn Neurosci 2:277–289. doi: 10.1016/j.dcn.2011.12.004 CrossRefPubMedGoogle Scholar
  82. Schneider M et al (2014a) Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry 171:627–639. doi: 10.1176/appi.ajp.2013.13070864 CrossRefPubMedPubMedCentralGoogle Scholar
  83. Schneider M, Schaer M, Mutlu AK, Menghetti S, Glaser B, Debbane M, Eliez S (2014b) Clinical and cognitive risk factors for psychotic symptoms in 22q11.2 deletion syndrome: a transversal and longitudinal approach. Eur Child Adolesc Psychiatry 23:425–436. doi: 10.1007/s00787-013-0469-8 CrossRefPubMedGoogle Scholar
  84. Schneider M, Van der Linden M, Menghetti S, Glaser B, Debbane M, Eliez S (2014c) Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome. J Psychiatr Res 48:86–93. doi: 10.1016/j.jpsychires.2013.10.010 CrossRefPubMedGoogle Scholar
  85. Schreiner MJ, Karlsgodt KH, Uddin LQ, Chow C, Congdon E, Jalbrzikowski M, Bearden CE (2014) Default mode network connectivity and reciprocal social behavior in 22q11.2 deletion syndrome. Soc Cogn Affect Neurosci 9:1261–1267. doi: 10.1093/scan/nst114 CrossRefPubMedGoogle Scholar
  86. Shashi V, Muddasani S, Santos CC, Berry MN, Kwapil TR, Lewandowski E, Keshavan MS (2004) Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome. Neuroimage 21:1399–1406. doi: 10.1016/j.neuroimage.2003.12.004 CrossRefPubMedGoogle Scholar
  87. Shashi V et al (2012) Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms. Eur J Hum Genet 20:1051–1057. doi: 10.1038/ejhg.2012.138 CrossRefPubMedPubMedCentralGoogle Scholar
  88. Simon TJ, Ding L, Bish JP, McDonald-McGinn DM, Zackai EH, Gee J (2005) Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage 25:169–180. doi: 10.1016/j.neuroimage.2004.11.018 CrossRefPubMedGoogle Scholar
  89. Simon TJ, Wu Z, Avants B, Zhang H, Gee JC, Stebbins GT (2008) Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome. Behav Brain Funct 4:25. doi: 10.1186/1744-9081-4-25 CrossRefPubMedPubMedCentralGoogle Scholar
  90. Song S-K, Sun S-W, Ju W-K, Lin S-J, Cross AH, Neufeld AH (2003) Diffusion tensor imaging detects and differentiates axon and myelin degeneration in mouse optic nerve after retinal ischemia. NeuroImage 20:1714–1722. doi: 10.1016/S1053-8119(03)00440-3 CrossRefPubMedGoogle Scholar
  91. Song S-K, Yoshino J, Le TQ, Lin S-J, Sun S-W, Cross AH, Armstrong RC (2005) Demyelination increases radial diffusivity in corpus callosum of mouse brain. NeuroImage 26:132–140. doi: 10.1016/j.neuroimage.2005.01.028 CrossRefPubMedGoogle Scholar
  92. Sporns O (2006) Small-world connectivity, motif composition, and complexity of fractal neuronal connections. Biosystems 85:55–64. doi: 10.1016/j.biosystems.2006.02.008 CrossRefPubMedGoogle Scholar
  93. Sporns O, Tononi G, Kötter R (2005) The human connectome: a structural description of the human brain. PLoS Comput Biol 1:e42. doi: 10.1371/journal.pcbi.0010042 CrossRefPubMedPubMedCentralGoogle Scholar
  94. Sporns O, Honey CJ, Kötter R (2007) Identification and classification of hubs in brain networks. PLoS One 2:e1049. doi: 10.1371/journal.pone.0001049 CrossRefPubMedPubMedCentralGoogle Scholar
  95. Sundram F et al (2010) White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents. J Neurodev Disord 2:77–92. doi: 10.1007/s11689-010-9043-6 CrossRefPubMedPubMedCentralGoogle Scholar
  96. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns J (1997) Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of children and adolescents with VCFS. J Med Genet 34:453–458CrossRefPubMedPubMedCentralGoogle Scholar
  97. Takao H, Hayashi N, Kabasawa H, Ohtomo K (2012) Effect of scanner in longitudinal diffusion tensor imaging studies. Hum Brain Mapp 33:466–477. doi: 10.1002/hbm.21225 CrossRefPubMedGoogle Scholar
  98. Tan GM, Arnone D, McIntosh AM, Ebmeier KP (2009) Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophr Res 115:173–181. doi: 10.1016/j.schres.2009.09.010 CrossRefPubMedGoogle Scholar
  99. Tomescu MI et al (2014) Deviant dynamics of EEG resting state pattern in 22q11.2 deletion syndrome adolescents: a vulnerability marker of schizophrenia? Schizophr Res 157:175–181. doi: 10.1016/j.schres.2014.05.036 CrossRefPubMedGoogle Scholar
  100. Tomescu MI et al (2015) Schizophrenia patients and 22q11.2 deletion syndrome adolescents at risk express the same deviant patterns of resting state EEG microstates: a candidate endophenotype of schizophrenia. Schizophrenia Res. doi: 10.1016/j.scog.2015.04.005 Google Scholar
  101. van den Heuvel MP, Sporns O (2013) Network hubs in the human brain. Trends Cogn Sci 17:683–696. doi: 10.1016/j.tics.2013.09.012 CrossRefPubMedGoogle Scholar
  102. Villalon-Reina J, Jahanshad N, Beaton E, Toga AW, Thompson PM, Simon TJ (2013) White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging. Neuroimage 81:441–454. doi: 10.1016/j.neuroimage.2013.04.028 CrossRefPubMedGoogle Scholar
  103. Vorstman JA et al (2015) Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry 72:377–385. doi: 10.1001/jamapsychiatry.2014.2671 CrossRefPubMedPubMedCentralGoogle Scholar
  104. Watts DJ, Strogatz SH (1998) Collective dynamics of/`small-world/’ networks. Nature 393:440–442CrossRefPubMedGoogle Scholar
  105. Wernicke C (1906) Grundrisse der Psychiatrie Leipzig. Thieme, GermanyGoogle Scholar
  106. Woodin M, Wang P, Aleman D, McDonald-McGinn D, Zackai E, Moss E (2001) Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 3:34–39CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Wien 2016

Authors and Affiliations

  1. 1.Office Médico-Pédagogique, Department of PsychiatryUniversity of GenevaGenève 8Switzerland
  2. 2.Stanford Cognitive and Systems Neuroscience LaboratoryStanford UniversityStanfordUSA
  3. 3.Department of Genetic Medicine and DevelopmentUniversity of GenevaGenevaSwitzerland

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