Informing DSM-5: biological boundaries between bipolar I disorder, schizoaffective disorder, and schizophrenia

BMC Medicine

Trisha Suppes¹  Victoria E Cosgrove¹ 

[1]Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, USA

关键词: Brain function;    Psychiatric medication;    Genes;    DSM- 5;    Schizophrenia;    Schizoaffective disorder;    Delusions;    Hallucinations;    Bipolar disorder;   

Others  :  857032
DOI  :  10.1186/1741-7015-11-127

 received in 2013-02-08, accepted in 2013-04-19,  发布年份 2013

【 摘 要 】

Background

The fifth version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) opted to retain existing diagnostic boundaries between bipolar I disorder, schizoaffective disorder, and schizophrenia. The debate preceding this decision focused on understanding the biologic basis of these major mental illnesses. Evidence from genetics, neuroscience, and pharmacotherapeutics informed the DSM-5 development process. The following discussion will emphasize some of the key factors at the forefront of the debate.

Discussion

Family studies suggest a clear genetic link between bipolar I disorder, schizoaffective disorder, and schizophrenia. However, large-scale genome-wide association studies have not been successful in identifying susceptibility genes that make substantial etiological contributions. Boundaries between psychotic disorders are not further clarified by looking at brain morphology. The fact that symptoms of bipolar I disorder, but not schizophrenia, are often responsive to medications such as lithium and other anticonvulsants must be interpreted within a larger framework of biological research.

Summary

For DSM-5, existing nosological boundaries between bipolar I disorder and schizophrenia were retained and schizoaffective disorder preserved as an independent diagnosis since the biological data are not yet compelling enough to justify a move to a more neurodevelopmentally continuous model of psychosis.

【 授权许可】

   
2013 Cosgrove and Suppes; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Tamminga CA, Sirovatka PJ, Regier DA, Os J van (Eds): Deconstructing Psychosis: Refining the Research Agenda for DSM-V. Arlington, VA: American Psychiatric Association; 2010.
• [2]Kendler KS: An historical framework for psychiatric nosology. Psychol Med 2009, 39:1935-1941.
• [3]Kawa S, Giordano J: A brief historicity of the Diagnostic and Statistical Manual of Mental Disorders: issues and implications for the future of psychiatric canon and practice. Philos Ethics Humanit Med 2012, 7:2. BioMed Central Full Text
• [4]Patil T, Giordano J: On the ontological assumptions of the medical model of psychiatry: philosophical considerations and pragmatic tasks. Philos Ethics Humanit Med 2010, 5:3. BioMed Central Full Text
• [5]Farah MJ, Gillihan SJ: The puzzle of neuroimaging and psychiatric diagnosis: technology and nosology in an evolving discipline. AJOB Neurosci 2012, 3:31-41.
• [6]Robins E, Guze SB: Establishment of diagnostic validity in psychiatric illness: its application to schizophrenia. Am J Psychiatry 1970, 126:983-987.
• [7]Radden JH: Recognition rights, mental health consumers and reconstructive cultural semantics. Philos Ethics Humanit Med 2012, 7:6. BioMed Central Full Text
• [8]Silverstein SM, Bellack AS: A scientific agenda for the concept of recovery as it applies to schizophrenia. Clin Psychol Rev 2008, 28:1108-1124.
• [9]Lysaker PH, Roe D, Buck KD: Recovery and wellness amidst schizophrenia: definitions, evidence, and the implications for clinical practice. J Am Psychiatr Nurses Assoc 2010, 16:36-42.
• [10]Rosen LN, Rosenthal NE, Dunner DL, Fieve RR: Social outcome compared in psychotic and nonpsychotic bipolar I patients. J Nerv Ment Dis 1983, 171:272-275.
• [11]Abrams DJ, Rojas DC, Arciniegas DB: Is schizoaffective disorder a distinct categorical diagnosis? A critical review of the literature. Neuropsychiatr Dis Treat 2008, 4:1089-1109.
• [12]Malhi GS, Green M, Fagiolini A, Peselow ED, Kumari V: Schizoaffective disorder: diagnostic issues and future recommendations. Bipolar Disord 2008, 10:215-230.
• [13]Ivleva EI, Morris DW, Moates AF, Suppes T, Thaker GK, Tamminga CA: Genetics and intermediate phenotypes of the schizophrenia–bipolar disorder boundary. Neurosci Biobehav Rev 2010, 34:897-921.
• [14]O’Donovan MC, Craddock NJ, Owen MJ: Genetics of psychosis; insights from views across the genome. Hum Genet 2009, 126:3-12.
• [15]Gur RE, Keshavan MS, Lawrie SM: Deconstructing psychosis with human brain imaging. Schizophr Bull 2007, 33:921-931.
• [16]Jäger M, Haack S, Becker T, Frasch K: Schizoaffective disorder–an ongoing challenge for psychiatric nosology. Eur Psychiatry 2011, 26:159-165.
• [17]Phillips J, Frances A, Cerullo MA, Chardavoyne J, Decker HS, First MB, Ghaemi N, Greenberg G, Hinderliter AC, Kinghorn WA, LoBello SG, Martin EB, Mishara AL, Paris J, Pierre JM, Pies RW, Pincus HA, Porter D, Pouncey C, Schwartz MA, Szasz T, Wakefield JC, Waterman GS, Whooley O, Zachar P: The six most essential questions in psychiatric diagnosis: a pluralogue part 1: conceptual and definitional issues in psychiatric diagnosis. Philos Ethics Humanit Med 2012, 7:3. BioMed Central Full Text
• [18]Phillips J, Frances A, Cerullo MA, Chardavoyne J, Decker HS, First MB, Ghaemi N, Greenberg G, Hinderliter AC, Kinghorn WA, LoBello SG, Martin EB, Mishara AL, Paris J, Pierre JM, Pies RW, Pincus HA, Porter D, Pouncey C, Schwartz MA, Szasz T, Wakefield JC, Waterman GS, Whooley O, Zachar P: The six most essential questions in psychiatric diagnosis: a pluralogue part 2: Issues of conservatism and pragmatism in psychiatric diagnosis. Philos Ethics Humanit Med 2012, 7:8. BioMed Central Full Text
• [19]Phillips J, Frances A, Cerullo MA, Chardavoyne J, Decker HS, First MB, Ghaemi N, Greenberg G, Hinderliter AC, Kinghorn WA, LoBello SG, Martin EB, Mishara AL, Paris J, Pierre JM, Pies RW, Pincus HA, Porter D, Pouncey C, Schwartz MA, Szasz T, Wakefield JC, Waterman GS, Whooley O, Zachar P: The six most essential questions in psychiatric diagnosis: a pluralogue part 3: issues of utility and alternative approaches in psychiatric diagnosis. Philos Ethics Humanit Med 2012, 7:9. BioMed Central Full Text
• [20]Phillips J, Frances A, Cerullo MA, Chardavoyne J, Decker HS, First MB, Ghaemi N, Greenberg G, Hinderliter AC, Kinghorn WA, LoBello SG, Martin EB, Mishara AL, Paris J, Pierre JM, Pies RW, Pincus HA, Porter D, Pouncey C, Schwartz MA, Szasz T, Wakefield JC, Waterman GS, Whooley O, Zachar P: The six most essential questions in psychiatric diagnosis: a pluralogue. Part 4: general conclusion. Philos Ethics Humanit Med 2012, 7:14. BioMed Central Full Text
• [21]Kraepelin E: Psychiatrie. 6th edition. Leipzig: Barth; 1899.
• [22]Insel T, Cuthbert B, Garvey M, Heinssen R, Pine DS, Quinn K, Sanislow C, Wang P: Research domain criteria (RDoC): toward a new classification framework for research on mental disorders. Am J Psychiatry 2010, 167:748-751.
• [23]Caspi A, Moffitt TE: Gene-environment interactions in psychiatry: joining forces with neuroscience. Nat Rev Neurosci 2006, 7:583-590.
• [24]Wurzman R, Giordano J: Differential susceptibility to plasticity: a ‘missing link’ between gene-culture co-evolution and neuropsychiatric spectrum disorders? BMC Med 2012, 10:37. BioMed Central Full Text
• [25]Belsky J, Pluess M: Beyond diathesis stress: differential susceptibility to environmental influences. Psychol Bull 2009, 135:885-908.
• [26]Tsuang MT, Winokur G, Crowe RR: Morbidity risks of schizophrenia and affective disorders among first degree relatives of patients with schizophrenia, mania, depression and surgical conditions. Br J Psychiatry 1980, 137:497-504.
• [27]Mortensen PB, Pedersen CB, Melbye M, Mors O, Ewald H: Individual and familial risk factors for bipolar affective disorders in Denmark. Arch Gen Psychiatry 2003, 60:1209-1215.
• [28]Lichtenstein P, Yip BH, Björk C, Pawitan Y, Cannon TD, Sullivan PF, Hultman CM: Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet 2009, 373:234-239.
• [29]Van Snellenberg JX, De Candia T: Meta-analytic evidence for familial coaggregation of schizophrenia and bipolar disorder. Arch Gen Psychiatry 2009, 66:748-755.
• [30]Dean K, Stevens H, Mortensen PB, Murray RM, Walsh E, Pedersen CB: Full spectrum of psychiatric outcomes among offspring with parental history of mental disorder. Arch Gen Psychiatry 2010, 67:822-829.
• [31]Gershon ES, Hamovit J, Guroff JJ, Dibble E, Leckman JF, Sceery W, Targum SD, Nurnberger JI, Goldin LR, Bunney WE: A family study of schizoaffective, bipolar I, bipolar II, unipolar, and normal control probands. Arch Gen Psychiatry 1982, 39:1157.
• [32]Maier W, Lichtermann D, Minges J, Hallmayer J, Heun R, Benkert O, Levinson DF: Continuity and discontinuity of affective disorders and schizophrenia. Results of a controlled family study. Arch Gen Psychiatry 1993, 50:871.
• [33]Kendler KS, Karkowski LM, Walsh D: The structure of psychosis: latent class analysis of probands from the Roscommon Family Study. Arch Gen Psychiatry 1998, 55:492-499.
• [34]Cardno AG, Rijsdijk FV, Sham PC, Murray RM, McGuffin P: A twin study of genetic relationships between psychotic symptoms. Am J Psychiatry 2002, 159:539-545.
• [35]Green EK, Grozeva D, Jones I, Jones L, Kirov G, Caesar S, Gordon-Smith K, Fraser C, Forty L, Russell E, Hamshere ML, Moskvina V, Nikolov I, Farmer A, McGuffin P, Holmans PA, Owen MJ, O'Donovan MC, Craddock N: The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia. Mol Psychiatry 2009, 15:101698.
• [36]Williams HJ, Craddock N, Russo G, Hamshere ML, Moskvina V, Dwyer S, Smith RL, Green E, Grozeva D, Holmans P, Owen MJ, O'Donovan M: Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Hum Mol Genet 2010. [cited 2013 May 4]; Available from: http://hmg.oxfordjournals.org/content/early/2010/11/22/hmg.ddq471 webcite
• [37]Lee KW, Woon PS, Teo YY, Sim K: Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: what have we learnt? Neurosci Biobehav Rev 2012, 36:556-571.
• [38]Ellison-Wright I, Bullmore E: Anatomy of bipolar disorder and schizophrenia: a meta-analysis. Schizophr Res 2010, 11:1-12.
• [39]Arnone D, Cavanagh J, Gerber D, Lawrie SM, Ebmeier KP, McIntosh AM: Magnetic resonance imaging studies in bipolar disorder and schizophrenia: meta-analysis. Br J Psychiatry 2009, 195:194-201.
• [40]Rimol LM, Nesvåg R, Hagler DJ Jr, Bergmann O, Fennema-Notestine C, Hartberg CB, Haukvik UK, Lange E, Pung CJ, Server A, Melle I, Andreassen OA, Agartz I, Dale AM: Cortical volume, surface area, and thickness in schizophrenia and bipolar disorder. Biol Psychiatry 2012, 71:552-560.
• [41]McIntosh AM, Job DE, Moorhead WJ, Harrison LK, Whalley HC, Johnstone EC, Lawrie SM: Genetic liability to schizophrenia or bipolar disorder and its relationship to brain structure. Am J Med Genet B Neuropsychiatr Genet 2006, 141B:76-83.
• [42]Hulshoff Pol HE, Van Baal GCM, Schnack HG, Brans RGH, Van der Schot AC, Brouwer RM, van Haren NE, Lepage C, Collins DL, Evans AC, Boomsma DI, Nolen W, Kahn RS: Overlapping and segregating structural brain abnormalities in twins with schizophrenia or bipolar disorder. Arch Gen Psychiatry 2012, 69:349-359.
• [43]Suppes T, Baldessarini RJ, Faedda GL, Tohen M: Risk of recurrence following discontinuation of lithium treatment in bipolar disorder. Arch Gen Psychiatry 1991, 48:1082-1088.
• [44]Schulz SC, Thompson PA, Jacobs M, Ninan PT, Robinson D, Weiden PJ, Yadalam K, Glick ID, Odbert CL: Lithium augmentation fails to reduce symptoms in poorly responsive schizophrenic outpatients. J Clin Psychiatry 1999, 60:366.
• [45]Baldessarini RJ, Viguera AC, Tondo L: Discontinuing psychotropic agents. J Psychopharmacol 1999, 13:292-293. discussion 299
• [46]Leucht S, Kissling W, McGrath J: Lithium for schizophrenia. Cochrane Database Syst Rev 2007., 3CD003834
• [47]Casey DE, Daniel DG, Wassef AA, Tracy KA, Wozniak P, Sommerville KW: Effect of divalproex combined with olanzapine or risperidone in patients with an acute exacerbation of schizophrenia. Neuropsychopharmacology 2003, 28:182-192.
• [48]Tiihonen J, Hallikainen T, Ryynänen O-P, Repo-Tiihonen E, Kotilainen I, Eronen M, Toivonen P, Wahlbeck K, Putkonen A: Lamotrigine in treatment-resistant schizophrenia: a randomized placebo-controlled crossover trial. Biol Psychiatry 2003, 54:1241-1248.
• [49]Kremer I, Vass A, Gorelik I, Bar G, Blanaru M, Javitt DC, Heresco-Levy U: Placebo-controlled trial of lamotrigine added to conventional and atypical antipsychotics in schizophrenia. Biol Psychiatry 2004, 56:441-446.
• [50]Zoccali R, Muscatello MR, Bruno A, Cambria R, Micentional , Meduri M: The effect of lamotrigine augmentation of clozapine in a sample of treatment-resistant schizophrenic patients: a double-blind, placebo-controlled study. Schizophr Res 2007, 93:109-116.
• [51]Goff DC, Keefe R, Citrome L, Davy K, Krystal JH, Large C, Thompson TR, Volavka J, Webster EL: Lamotrigine as add-on therapy in schizophrenia: results of 2 placebo-controlled trials. J Clin Psychopharmacol 2007, 27:582-589.
• [52]Post RM: Comparative pharmacology of bipolar disorder and schizophrenia. Schizophr Res 1999, 39:153-158. discussion 163
• [53]Cardno AG, Marshall EJ, Coid B, Macdonald AM, Ribchester TR, Davies NJ, Venturi P, Jones LA, Lewis SW, Sham PC, Gottesman II, Farmer AE, McGuffin P, Reveley AM, Murray RM: Heritability estimates for psychotic disorders: the Maudsley twin psychosis series. Arch Gen Psychiatry 1999, 56:162-168.
• [54]Sullivan PF: The psychiatric GWAS consortium: big science comes to psychiatry. Neuron 2010, 68:182-186.
• [55]Green EK, Grozeva D, Jones I, Jones L, Kirov G, Caesar S, Gordon-Smith K, Fraser C, Forty L, Russell E, Hamshere ML, Moskvina V, Nikolov I, Farmer A, McGuffin P, Holmans PA, Owen MJ, O'Donovan MC, Craddock N, Wellcome Trust Case Control Consortium: The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia. Mol Psychiatry 2009, 15:1016-1022.
• [56]McDonald C, Bullmore E, Sham P, Chitnis X, Suckling J, MacCabe J, Walshe M, Murray RM: Regional volume deviations of brain structure in schizophrenia and psychotic bipolar disorder: computational morphometry study. Br J Psychiatry 2005, 186:369-377.
• [57]McDonald C, Marshall N, Sham PC, Bullmore ET, Schulze K, Chapple B, Bramon E, Filbey F, Quraishi S, Walshe M, Murray RM: Regional brain morphometry in patients with schizophrenia or bipolar disorder and their unaffected relatives. Am J Psychiatry 2006, 163:478-487.
• [58]McDonald C, Bullmore ET, Sham PC, Chitnis X, Wickham H, Bramon E, Murray RM: Association of genetic risks for schizophrenia and bipolar disorder with specific and generic brain structural endophenotypes. Arch Gen Psychiatry 2004, 61:974-984.
• [59]Stahl SM: Stahl’s Essential Psychopharmacology: Neuroscientific Basis and Practical Applications. Cambridge, UK: Cambridge University Press; 2008.
• [60]Goodwin FK: Rationale for long-term treatment of bipolar disorder and evidence for long-term lithium treatment. J Clin Psychiatry 2002, 63:5-12.
• [61]Schwarz C, Volz A, Li C, Leucht S: Valproate for schizophrenia. Cochrane Database Syst Rev 2008., 3CD004028
• [62]Amann B, Born C, Crespo JM, Pomarol-Clotet E, McKenna P: Lamotrigine: when and where does it act in affective disorders? A systematic review. J Psychopharmacol 2011, 25:1289-1294.
• [63]Goodwin FK, Jamison KR: Manic-Depressive Illness: Bipolar Disorders and Recurrent Depression. 2nd edition. New York: Oxford University Press; 2007.