Reduced fractional anisotropy and axial diffusivity in white matter in 22q11.2 deletion syndrome: A pilot study

Schizophrenia Research

Volumn 141, Issue 1, 2012, Pages 35-39

  Kikinis, Z ^a   Asami, T ^a   Bouix, S ^a   Finn, C T ^b   Ballinger, T ^a   Tworog Dube, E ^a   Kucherlapati, R ^c   Kikinis, R ^a   Shenton, M E ^a,c   Kubicki, M ^a,c  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

22q11.2 deletion syndrome (22q11.2DS); Axial and radial diffusivity; Diffusion Tensor Magnetic Resonance Imaging (DT MRI); Fractional anisotropy (FA); Schizophrenia; Tract Based Spatial Statistics (TBSS)

Indexed keywords

MYELIN;

22Q11.2 DELETION SYNDROME; ADULT; ARTICLE; AXIAL DIFFUSIVITY; BRAIN DISEASE; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFUSION TENSOR IMAGING; FEMALE; FRACTIONAL ANISOTROPY; HUMAN; IMAGE ANALYSIS; INCIDENCE; MALE; NERVE FIBER; PARIETAL LOBE; PHYSICAL PARAMETERS; PILOT STUDY; PRIORITY JOURNAL; RADIAL DIFFUSIVITY; SCHIZOPHRENIA; WHITE MATTER DISEASE;

ADOLESCENT; ADULT; ANISOTROPY; BRAIN; BRAIN MAPPING; CASE-CONTROL STUDIES; DIFFUSION TENSOR IMAGING; DIGEORGE SYNDROME; FEMALE; HUMANS; MALE; NERVE FIBERS, MYELINATED; PILOT PROJECTS; PSYCHIATRIC STATUS RATING SCALES; YOUNG ADULT;

EID: 84865990527     PISSN: 09209964     EISSN: 15732509     Source Type: Journal    
DOI: 10.1016/j.schres.2012.06.032     Document Type: Article

References (52)

1. Ashtari M., Cottone J., Ardekani B.A., Cervellione K., Szeszko P.R., Wu J., Chen S., Kumra S. Disruption of white matter integrity in the inferior longitudinal fasciculus in adolescents with schizophrenia as revealed by fiber tractography. Arch. Gen. Psychiatry 2007, 64(11):1270-1280.
2. Barnea-Goraly N., Lotspeich L.J., Reiss A.L. Similar white matter aberrations in children with autism and their unaffected siblings: a diffusion tensor imaging study using tract-based spatial statistics. Arch. Gen. Psychiatry 2010, 67(10):1052-1060.
3. 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.
4. Basser P.J., Mattiello J., LeBihan D. Estimation of the effective self-diffusion tensor from the NMR spin echo. J Magn Reson B 1994, 103(3):247-254.
5. 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. 2005, 138(4):307-313.
6. Beaulieu C. The basis of anisotropic water diffusion in the nervous system - a technical review. NMR Biomed. 2002, 15(7-8):435-455.
7. Carletti F., Woolley J.B., Bhattacharyya S., Perez-Iglesias R., Fusar Poli 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.
8. 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.
9. 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.
10. Davis K.L., Stewart D.G., Friedman J.I., Buchsbaum M., Harvey P.D., Hof P.R., Buxbaum J., Haroutunian V. White matter changes in schizophrenia: evidence for myelin-related dysfunction. Arch. Gen. Psychiatry 2003, 60(5):443-456.
11. Deserno L., Sterzer P., Wustenberg T., Heinz A., Schlagenhauf F. Reduced prefrontal-parietal effective connectivity and working memory deficits in schizophrenia. J. Neurosci. Off. J. Soc. Neurosci. 2012, 32(1):12-20.
12. Ellison-Wright I., Bullmore E. Meta-analysis of diffusion tensor imaging studies in schizophrenia. Schizophr. Res. 2009, 108(1-3):3-10.
13. Faul F., Erdfelder E., Buchner A., Lang A.G. Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses. Behav Res Methods 2009, 41(4):1149-1160.
14. Giorgio A., Watkins K.E., Chadwick M., James S., Winmill L., Douaud G., De Stefano N., Matthews P.M., Smith S.M., Johansen-Berg H., James A.C. Longitudinal changes in grey and white matter during adolescence. NeuroImage 2010, 49(1):94-103.
15. Gothelf D., Feinstein C., Thompson T., Gu E., Penniman L., Van Stone E., Kwon H., Eliez S., Reiss A.L. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am. J. Psychiatry 2007, 164(4):663-669.
16. 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.
17. Green T., Gothelf D., Glaser B., Debbane M., Frisch A., Kotler M., Weizman A., Eliez S. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J. Am. Acad. Child Adolesc. Psychiatry 2009, 48(11):1060-1068.
18. Gudbjartsson H., Maier S.E., Mulkern R.V., Morocz I.A., Patz S., Jolesz F.A. Line scan diffusion imaging. Magn. Reson. Med. 1996, 36(4):509-519.
19. Hakak Y., Walker J.R., Li C., Wong W.H., Davis K.L., Buxbaum J.D., Haroutunian V., Fienberg A.A. Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 2001, 98(8):4746-4751.
20. Harsan L.A., Poulet P., Guignard B., Steibel J., Parizel N., de Sousa P.L., Boehm N., Grucker D., Ghandour M.S. Brain dysmyelination and recovery assessment by noninvasive in vivo diffusion tensor magnetic resonance imaging. J. Neurosci. Res. 2006, 83(3):392-402.
21. Hollingshead A. Two factor index of social position 1965, Yale University Press, New Haven, CT.
22. 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.
23. Kiehl T.R., Chow E.W., Mikulis D.J., George S.R., Bassett A.S. Neuropathologic features in adults with 22q11.2 deletion syndrome. Cereb. Cortex 2009, 19(1):153-164.
24. Kirby M.L., Gale T.F., Stewart D.E. Neural crest cells contribute to normal aorticopulmonary septation. Science (New York, N.Y.) 1983, 220(4601):1059-1061.
25. Klawiter E.C., Schmidt R.E., Trinkaus K., Liang H.F., Budde M.D., Naismith R.T., Song S.K., Cross A.H., Benzinger T.L. Radial diffusivity predicts demyelination in ex vivo multiple sclerosis spinal cords. NeuroImage 2011, 1454-1460.
26. Konrad A., Winterer G. Disturbed structural connectivity in schizophrenia primary factor in pathology or epiphenomenon?. Schizophr. Bull. 2008, 34(1):72-92.
27. Kubicki M., Maier S.E., Westin C.F., Mamata H., Ersner-Hershfield H., Estepar R., Kikinis R., Jolesz F.A., McCarley R.W., Shenton M.E. Comparison of single-shot echo-planar and line scan protocols for diffusion tensor imaging. Acad. Radiol. 2004, 11(2):224-232.
28. Kubicki M., McCarley R., Westin C.F., Park H.J., Maier S., Kikinis R., Jolesz F.A., Shenton M.E. A review of diffusion tensor imaging studies in schizophrenia. J. Psychiatr. Res. 2007, 41(1-2):15-30.
29. Mangin J.F., Poupon C., Clark C., Le Bihan D., Bloch I. Distortion correction and robust tensor estimation for MR diffusion imaging. Med. Image Anal. 2002, 6(3):191-198.
30. Meechan D.W., Maynard T.M., Tucker E.S., Lamantia A.S. Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int. J. Dev. Neurosci. 2010.
31. Melonakos E.D., Shenton M.E., Rathi Y., Terry D.P., Bouix S., Kubicki M. Voxel-based morphometry (VBM) studies in schizophrenia-can white matter changes be reliably detected with VBM?. Psychiatry Res. 2011, 193(2):65-70.
32. 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.
33. 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.
34. Nagesh V., Tsien C.I., Chenevert T.L., Ross B.D., Lawrence T.S., Junick L., Cao Y. Radiation-induced changes in normal-appearing white matter in patients with cerebral tumors: a diffusion tensor imaging study. Int. J. Radiat. Oncol. Biol. Phys. 2008, 70(4):1002-1010.
35. Niklasson L., Rasmussen P., Oskarsdottir S., Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res. Dev. Disabil. 2009, 30(4):763-773.
36. Papolos D.F., Faedda G.L., Veit S., Goldberg R., Morrow B., Kucherlapati R., Shprintzen R.J. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?. Am. J. Psychiatry 1996, 153(12):1541-1547.
37. Roosendaal S.D., Geurts J.J., Vrenken H., Hulst H.E., Cover K.S., Castelijns J.A., Pouwels P.J., Barkhof F. Regional DTI differences in multiple sclerosis patients. NeuroImage 2009, 44(4):1397-1403.
38. Rosenberger G., Kubicki M., Nestor P.G., Connor E., Bushell G.B., Markant D., Niznikiewicz M., Westin C.F., Kikinis R., McCarley R.W., Shenton M.E. Age-related deficits in fronto-temporal connections in schizophrenia: a diffusion tensor imaging study. Schizophr. Res. 2008, 102(1-3):181-188. (A, J.S.).
39. Seal M.L., Yucel M., Fornito A., Wood S.J., Harrison B.J., Walterfang M., Pell G.S., Pantelis C. Abnormal white matter microstructure in schizophrenia: a voxelwise analysis of axial and radial diffusivity. Schizophr. Res. 2008, 101(1-3):106-110.
40. Shprintzen R.J. Velo-cardio-facial syndrome: 30 years of study. Dev. Disabil. Res. Rev. 2008, 14(1):3-10.
41. 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.
42. Smith S.M., Jenkinson M., Johansen-Berg H., Rueckert D., Nichols T.E., Mackay C.E., Watkins K.E., Ciccarelli O., Cader M.Z., Matthews P.M., Behrens T.E. Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. NeuroImage 2006, 31(4):1487-1505.
43. Song S.K., Sun S.W., Ju W.K., Lin S.J., Cross A.H., Neufeld A.H. Diffusion tensor imaging detects and differentiates axon and myelin degeneration in mouse optic nerve after retinal ischemia. NeuroImage 2003, 20(3):1714-1722.
44. Song S.K., Yoshino J., Le T.Q., Lin S.J., Sun S.W., Cross A.H., Armstrong R.C. Demyelination increases radial diffusivity in corpus callosum of mouse brain. NeuroImage 2005, 26(1):132-140.
45. Spitzer R., Williams J.B.W., Gibbson M., First M. The Structured Clinical Interview for DSM-III-R-Non-Patient Edition (SCID-NP) 1990, American Psychiatric Association, Washington, DC.
46. Sundram F., Campbell L.E., Azuma R., Daly E., Bloemen O.J.N. 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. (al., e.).
47. Tkachev D., Mimmack M.L., Ryan M.M., Wayland M., Freeman T., Jones P.B., Starkey M., Webster M.J., Yolken R.H., Bahn S. Oligodendrocyte dysfunction in schizophrenia and bipolar disorder. Lancet 2003, 362(9386):798-805.
48. Uranova N., Orlovskaya D., Vikhreva O., Zimina I., Kolomeets N., Vostrikov V., Rachmanova V. Electron microscopy of oligodendroglia in severe mental illness. Brain Res. Bull. 2001, 55(5):597-610.
49. 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.
50. Van Hecke W., Leemans A., Sijbers J., Vandervliet E., Van Goethem J., Parizel P.M. A tracking-based diffusion tensor imaging segmentation method for the detection of diffusion-related changes of the cervical spinal cord with aging. J. Magn. Reson. Imaging 2008, 27(5):978-991.
51. Wakana S., Caprihan A., Panzenboeck M.M., Fallon J.H., Perry M., Gollub R.L., Hua K., Zhang J., Jiang H., Dubey P., Blitz A., van Zijl P., Mori S. Reproducibility of quantitative tractography methods applied to cerebral white matter. NeuroImage 2007, 36(3):630-644.
52. Whitford T.J., Kubicki M., Schneiderman J.S., O'Donnell L.J., King R., Alvarado J.L., Khan U., Markant D., Nestor P.G., Niznikiewicz M., McCarley R.W., Westin C.F., Shenton M.E. Corpus callosum abnormalities and their association with psychotic symptoms in patients with schizophrenia. Biol. Psychiatry 2010, 68(1):70-77.