Abstract
Increasing efforts to identify alternate expressions of neuropsychiatric disorders that are broader than the DSM or ICD diagnostic criteria needed to diagnose them reflects a growing consensus that multidimensional expressions of neuropsychiatric disorders may advance the search for underlying etiological or modulatory factors. Endophenotypic research can be considered to be one of the most promising strategies to bridge the gap between genomic complexity and the phenotypic heterogeneity observed in neuropsychiatric disorders. However, the majority of endophenotype studies were limited to our western counterparts, very little has been done and initiated by scholars in mainland China. In this paper, we urge the need to establish a potential central consortium for endophenotypes to study neuropsychiatric disorders in mainland China. In particular, we illustrate a potential example of neurological soft signs in following the steps for building the consortium.
Article PDF
Similar content being viewed by others
References
Gould T, Gottesman I. Psychiatric endophenotypes and the development of valid animal models. Genes Brain Behav, 2006, 5: 113–119
Gottesman I I, Gould T D. The endophenotype concept in psychiatry: Etymology and strategic intentions. Am J Psychiatry, 2003, 160: 636–645
Cannon T D, Keller M C. Endophenotypes in the genetic analyses of mental disorders. Annu Rev Clin Psychol, 2006, 2: 267–290
Braff D L, Freedman R, Schork N J, et al. Deconstructing schizophrenia: An overview of the use of endophenotypes in order to understand a complex disorder. Schizophr Bull, 2007, 33: 21–32
John B, Lewis K. Chromosome variability and geographic distribution in insects. Science, 1966, 152: 711–721
Gottesman I I, Shields J. Genetic theorizing and schizophrenia. Br J Psychiatry, 1973, 122: 15–30
Gottesman I I, Shields J. Schizophrenia and Genetics: A Twin Study Vantage Point. New York and London: Academic Press, 1972
Harrison P, Weinberger D. Schizophrenia genes, gene expression, and neuropathology: On the matter of their convergence. Mol Psychiatry, 2005, 10: 40–68
Gottesman I I, Hanson D R. Human development: Biological and genetic processes. Annu Rev Psychol, 2005, 56: 263–286
Craddock N, O’Donovan M, Owen M. Psychosis genetics: Modeling the relationship between schizophrenia, bipolar disorder, and mixed (or “Schizoaffective”) psychoses. Schizophr Bull, 2009, 35: 482–490
Plomin R, Haworth C M A, Davis O S P. Genetics of learning abilities and disabilities: Recent developments from the UK and possible directions for research in China. Acta Psychol Sin, 2008, 40: 1051–1061
Kaminsky Z A, Tang T, Wang S C, et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet, 2009, 41: 240–245
Braff D, Greenwood T, Swerdlow N, et al. Advances in endophenotyping schizophrenia. World Psychiatry, 2008, 7: 11–18
Meyer-Lindenberg A, Weinberger D R. Intermediate phenotypes and genetic mechanisms of psychiatric disorders. Nat Rev Neurosci, 2006, 7: 818–827
Glahn D C, Almasy L, Blangero J, et al. Adjudicating neurocognitive endophenotypes for schizophrenia. Am J Med Genet B Neuropsychiatr Genet, 2007, 144: 242–249
Gur R E, Calkins M E, Gur R C, et al. The consortium on the genetics of schizophrenia: Neurocognitive endophenotypes. Schizophr Bull, 2007, 33: 49–68
Calkins M E, Dobie D J, Cadenhead K S, et al. The consortium on the genetics of endophenotypes in schizophrenia: Model recruitment, assessment, and endophenotyping methods for a multisite collaboration. Schizophr Bull, 2007, 33: 33–48
Chan R C K, Gottesman I I, Ge X, et al. Strategies for the study of neuropsychiatric disorders using endophenotypes in developing countries: A potential databank from China. Front Hum Neurosci, 2010, 4: 207
Chan R C K, Gottesman I I. Neurological soft signs as candidate endophenotypes for schizophrenia: A shooting star or a northern star? Neurosci Biobehav Rev, 2008, 32: 957–971
Heinrichs D W, Buchanan R W. Significance and meaning of neurological signs in schizophrenia. Am J Psychiatry, 1988, 145: 11–18
Bombin I, Celso A, Robert W B. Significance and meaning of neurological signs in schizophrenia: Two decades later. Schizophr Bull, 2005, 31: 962–977
Kinney D K, Woods B T, Yurgelun-Todd D. Neurologic abnormalities in schizophrenic patients and their families: II. Neurologic and psychiatric findings in relatives. Arch Gen Psychiatry, 1986, 43: 665–668
Flyckt L, Sydow O, Bjerkenstedt L, et al. Neurological signs and psychomotor performance in patients with schizophrenia, their relatives and healthy controls. Psychiatry Res, 1999, 86: 113–129
Griffiths T D, Sigmundsson T, Takei N, et al. Neurological abnormalities in familial and sporadic schizophrenia. Brain, 1998, 121: 191–203
Ismail B T, Cantor-Graae E, Cardenal S, et al. Neurological abnormalities in schizophrenia: Clinical, etiological and demographic correlates. Schizophr Res, 1998, 30: 229–238
Yazici A H, Demir B, Yazici K M, et al. Neurological soft signs in schizophrenic patients and their nonpsychotic siblings. Schizophr Res, 2002, 58: 241–246
Gourion D, Goldberger C, Bourdel M-C, et al. Neurological soft-signs and minor physical anomalies in schizophrenia: Differential transmission within families. Schizophr Res, 2003, 63: 181–187
Niemi L T, Suvisaari J M, Haukka J K, et al. Childhood predictors of future psychiatric morbidity in offspring of mothers with psychotic disorder: Results from the helsinki high-risk study. Br J Psychiatry, 2005, 186: 108–114
Schubert E W, McNeil T F. Prospective study of neurological abnormalities in offspring of women with psychosis: Birth to adulthood. Am J Psychiatry, 2004, 161: 1030–1037
Chan R C K, Chen E Y H. Neurological abnormalities in Chinese schizophrenic patients. Behav Neurol, 2007, 18: 171–181
Chen Y L R, Chen Y H E, Mak F L. Soft neurological signs in schizophrenic patients and their nonpsychotic siblings. J Nerv Ment Dis, 2000, 188: 84–89
Chan R C K, Xu T, Heinrichs R W, et al. Neurological soft signs in non-psychotic first-degree relatives of patients with schizophrenia: A systematic review and meta-analysis. Neurosci Biobehav Rev, 2010, 34: 889–896
Chan R C K, Xu T, Heinrichs R W, et al. Neurological soft signs in schizophrenia: A meta-analysis. Schizophr Bull, 2010, 36: 1089–1104
Buchanan R W, Heinrichs D W. The neurological evaluation scale (nes): A structured instrument for the assessment of neurological signs in schizophrenia. Psychiatry Res, 1989, 27: 335–350
Schröder J, Niethammer R, Geider F-J, et al. Neurological soft signs in schizophrenia. Schizophr Res, 1991, 6: 25–30
Chan R C K, Wang Y, Wang L, et al. Neurological soft signs and their relationships to neurocognitive functions: A re-visit with the structural equation modeling design. PLoS ONE, 2009, 4: e8469
Freedman R, Coon H, Myles-Worsley M, et al. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA, 1997, 94: 587–592
Olincy A, Harris J G, Johnson L L, et al. Proof-of-concept trial of an alpha7 nicotinic agonist in schizophrenia. Arch Gen Psychiatry, 2006, 63: 630–638
Cantor-Graae E, McNeil T F, Rickler K C, et al. Are neurological abnormalities in well discordant monozygotic co-twins of schizophrenic subjects the result of perinatal trauma? Am J Psychiatry, 1994, 151: 1194–1199
Kelly B D, Cotter D, Denihan C, et al. Neurological soft signs and dermatoglyphic anomalies in twins with schizophrenia. Eur Psychiatry, 2004, 19: 159–163
Niethammer R, Weisbrod M, Schiesser S, et al. Genetic influence on laterality in schizophrenia? A twin study of neurological soft signs. Am J Psychiatry, 2000, 157: 272–274
Weinberger D, Wyatt R, eds. Cerebral Ventricular Size: A Biological Marker for Subtyping Chronic Schizophrenia. Biological Markers in Psychiatry and Neurology. New York: Pergamon Press, 1982. 505–512
DeMyer M K, Gllmor R L, Hendrie H C, et al. Magnetic resonance brain images in schizophrenic and normal subjects: Influence of diagnosis and education. Schizophr Bull, 1988, 14: 21–37
Rubin P, Vorstrup S, Hemmingsen R, et al. Neurological abnormalities in patients with schizophrenia or schizophreniform disorder at first admission to hospital: Correlations with computerized tomography and regional cerebral blood flow findings. Acta Psychiatr Scand, 1994, 90: 385–390
Dazzan P, Murray R M. Neurological soft signs in first-episode psychosis: A systematic review. Br J Psychiatry, 2002, 181: s50–57
Bottmer C, Bachmann S, Pantel J, et al. Reduced cerebellar volume and neurological soft signs in first-episode schizophrenia. Psychiatry Res, 2005, 140: 239–250
Thomann P A, Wüstenberg T, Santos V D, et al. Neurological soft signs and brain morphology in first-episode schizophrenia. Psychol Med, 2009, 39: 371–379
Dazzan P, Kevin D M, Kenneth G O, et al. The structural brain correlates of neurological soft signs in aesop first-episode psychoses study. Brain, 2004, 127: 143–153
Dazzan P, Morgan K D, Chitnis X, et al. The structural brain correlates of neurological soft signs in healthy individuals. Cereb Cortex, 2006, 16: 1225–1231
Thomann P A, Roebel M, Santos V D, et al. Cerebellar substructures and neurological soft signs in first-episode schizophrenia. Psychiatry Res Neuroimaging, 2009, 173: 83–87
Schröder J, Essig M, Baudendistel K, et al. Motor dysfunction and sensorimotor cortex activation changes in schizophrenia: A study with functional magnetic resonance imaging. Neuroimage, 1999, 9: 81–87
Schröder J, Wenz F, Schad L, et al. Sensorimotor cortex and supplementary motor area changes in schizophrenia. A study with functional magnetic resonance imaging. Br J Psychiatry, 1995, 167: 197–201
Günther W, Petsch R, Steinberg R, et al. Brain dysfunction during motor activation and corpus callosum alterations in schizophrenia measured by cerebral blood flow and magnetic resonance imaging. Biol Psychiatry, 1991, 29: 535–555
Heuser M, Thomann P A, Essig M, et al. Neurological signs and morphological cerebral changes in schizophrenia: An analysis of NSS subscales in patients with first episode psychosis. Psychiatry Res Neuroimaging, 2011, 192: 69–76
Andreasen N C, Sergio P, Daniel S O L. “Cognitive dysmetria” as an integrative theory of schizophrenia: A dysfunction in cortical-sub-cortical-cerebellar circuitry? Schizophr Bull, 1998, 24: 203–218
Schröder J, Geider F J, Binkert M, et al. Subsyndromes in chronic schizophrenia: Do their psychopathological characteristics correspond to cerebral alterations? Psychiatry Res, 1992, 42: 209–220
Umetsu A, Okuda J, Fujii T, et al. Brain activation during the fist-edge-palm test: A functional MRI study. Neuroimage, 2002, 17: 385–392
Chan R C K, Rao H, Chen E E H, et al. The neural basis of motor sequencing: An fMRI study of healthy subjects. Neurosci Lett, 2006, 398: 189–194
Motomura N, Seo T, Asaba H, et al. Motor learning in ideomotor apraxia. Int J Neurosci, 1989, 47: 125–129
Friston K J, Buechel C, Fink G R, et al. Psychophysiological and modulatory interactions in neuroimaging. Neuroimage, 1997, 6: 218–229
Rao H, Di X, Chan R C K, et al. A regulation role of the prefrontal cortex in the fist-edge-palm task: Evidence from functional connectivity analysis. Neuroimage, 2008, 41: 1345–1351
Sergeant J A, Van der Meere J J, Oosterlaan J, eds. Information Processing and Energetic Factors in Attention-deficit/Hyperactivity Disorder. Handbook of Disruptive Behavior Disorders. New York: Plenum, 1999. 75–104
Chan R C K, McAlonan G M, Yang B, et al. Prevalence of neurological soft signs and their neuropsychological correlates in typically developing Chinese children and Chinese children with ADHD. Dev Neuropsychol, 2010, 35: 698–711
Casey B, Castellanos F X, Giedd J N, et al. Implication of right frontostriatal circuitry in response inhibition and attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry, 1997, 36: 374–383
Baldwin R, Jeffries S, Jackson A, et al. Neurological findings in late-onset depressive disorder: Comparison of individuals with and without depression. Br J Psychiatry, 2005, 186: 308–313
Negash A, Kebede D, Alem A, et al. Neurological soft signs in bipolar I disorder patients. J Affect Disord, 2004, 80: 221–230
Mukherjee S, Shukla S, Rosen A. Neurological abnormalities in patients with bipolar disorder. Biol Psychiatry, 1984, 19: 337
Author information
Authors and Affiliations
Corresponding author
Additional information
This article is published with open access at Springerlink.com
Rights and permissions
This article is published under an open access license. Please check the 'Copyright Information' section either on this page or in the PDF for details of this license and what re-use is permitted. If your intended use exceeds what is permitted by the license or if you are unable to locate the licence and re-use information, please contact the Rights and Permissions team.
About this article
Cite this article
Chan, R.C.K. Consortium for the Human Information and Neurocognitive Endophenotype (CHINE) in mainland China: An example from neurological soft signs for neuropsychiatric disorders. Chin. Sci. Bull. 56, 3409–3415 (2011). https://doi.org/10.1007/s11434-011-4715-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11434-011-4715-5