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Clinical Phenotypes: Problems in Diagnosis

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Genetic Research in Psychiatry

Abstract

Looking back at the proceedings of our last conference, I saw that I had discussed unreliability in psychiatric diagnoses. However, the primary problem in psychiatric diagnosis no longer can be said to be unreliability. Fortunately, substantial and impressive progress has been made during the past two decades. We now face a more complex and perhaps less tractable issue — the validity of diagnosis. One reason to be less sanguine about progress in improving validity compared to reliability is that, while we can reliably measure reliability, identifying a clear-cut criterion for validity is problematic. If one wants to improve something, it is helpful, if not necessary, to be able to measure it.

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References

  • Akiskal HS, Djenderedjian AH, Rosenthal R, Khani M (1977) Cyclothymic disorder: validating criteria for inclusion in bipolar affective group. Am J Psychiatry 134: 1227–1233

    PubMed  CAS  Google Scholar 

  • Andreasen NC, Rice J, Endicott J, Reich T, Coryell W (1986) The family history approach to diagnosis. Arch Gen Psychiatry 43: 421–429

    Article  PubMed  CAS  Google Scholar 

  • Baron M, Gruen R, Rainer JD, Kane J, Asnis L, Lord S (1985) A family study of schizophrenic and normal control probands: implications for the spectrum concept of schizophrenia. Am J Psychiatry 145: 447455

    Google Scholar 

  • Baron M, Risch N, Hamburger R, Mandel B, Kushner S, Newman M, Drumer D, Belmaker RH (1987) Genetic linkage between X-chromosome markers and bipolar affective illness. Nature 325: 289–292

    Article  Google Scholar 

  • Baron M, Hamburger R, Sandkuyl LA, Risch N, Mandel B, Endicott J, Belmaker RH, Ott J (1990) The impact of phenotypic variation on genetic analysis: application to X-linkage in manic-depressive illness. Acta Psychiatr Scand 82: 196–203

    Article  PubMed  CAS  Google Scholar 

  • Blacker D, Tsuang MT (1991) Uncharted boundaries of bipolar disorder. CME syllabus & proceedings summary, American Psychiatric Association, New Orleans Cassano GB, Akiskal HS, Musetti L, Perugi G, Soriani A, Mignani V (1989) Psychopathology, temperament, and past course in primary major depressions. 2. Toward a redefinition of bipolarity with a new semistructured interview for depression. Psychopathology 22: 278–288

    Google Scholar 

  • Coryell WH, Zimmerman M (1989) Personality disorder in the families of depressed, schizophrenic, and never-ill probands. Am J Psychiatry 146: 496–502

    PubMed  CAS  Google Scholar 

  • Detera-Wadleigh SD, Berrettini WH, Goldin LR, Boorman D, Anderson S, Gershon ES (1987) Close linkage of c-Harvey-ras-1 and insulin to affective disorder is ruled out in 3 North American pedigrees. Nature 325: 806–808

    Article  PubMed  CAS  Google Scholar 

  • Diehl SR, Kendler KS (1989) Strategies for linkage studies of schizophrenia: pedigrees, DNA markers, and statistical analyses. Schizophr Bull 15: 403–419

    Google Scholar 

  • Egeland JA, Hostetter AM (1983) Amish study I: affective disorders among the Amish, 1976–1980. Am J Psychiatry 140: 56–61

    PubMed  CAS  Google Scholar 

  • Egeland JA, Gerhard DS, Pauls DL, Sussex JN, Kidd KK, Allen CR, Hostetter AM, Houseman DE (1987)

    Google Scholar 

  • Bipolar affective disorders linked to DNA markers on chromosome 1 I. Nature 325:783–787 Ekstrom D, Quade D, Golden RN (1990) Statistical analysis of repeated measures in psychiatric research. Arch Gen Psychiatry 47: 770–772

    Google Scholar 

  • Endicott J. Nee J, Andreasen NC, Clayton P, Keller W, Coryell W (1985) Bipolar II, combine or keep separate? J Affect Dis 8: 17–28

    Article  PubMed  Google Scholar 

  • Faraone SV, Tsuang MT (1985) Quantitative models of the genetic transmission of schizophrenia. Psychol Bull 98: 41–66

    Article  PubMed  CAS  Google Scholar 

  • Faraone SV, Lyons, MJ, Tsuang MT (1988) Schizophrenia: mathematical models of genetic transmission. In: Tsuang MT, Simpson JC (eds) Handbook of schizophrenia, vol 3. Elsevier, Amsterdam Faraone SV, Kremen WS, Tsuang MT (1990) The genetic transmission of major affective disorders: mathematical models and linkage analyses. Psychol Bull 108: 109–127

    Google Scholar 

  • Garver DL, Reich T, Isenberg KE, Cloninger CR (1989) Schizophrenia and the question of genetic heterogeneity. Schizophr Bull 15: 421–430

    PubMed  CAS  Google Scholar 

  • Goldberg JD, Wittes JT (1978) The estimation of false negatives in medical screening. Biometrics 34: 7786

    Article  Google Scholar 

  • Goodwin FK, Jamison KR (1990) Manic-depressive illness. Oxford University Press, New York Gottesman II, McGue M (1990) Mixed and mixed-up models for the transmission of schizophrenia. In:

    Google Scholar 

  • Cichetti D, Grove W (eds) Thinking clearly about psychology: essays in honor of Paul E. Meehl. University of Minnesota Press, Minneapolis

    Google Scholar 

  • Gottesman II, Shields J (1967) A polygenic theory of schizophrenia. Proc Natl Acad Sci USA 58:199–205 Gottesman II, Shields J (1982) Schizophrenia: the epigenetic puzzle. Cambridge University Press, Cambridge

    Google Scholar 

  • Gurling HMD, Sherrington RP, Brynjolfsson J, Read T, Curtis D, Mankoo BJ, Potter M, Petursson I-1(1989) Recent and future molecular genetic research into schizophrenia. Schizophr Bull 15; 373–382

    Google Scholar 

  • Hanson DR, Gottesman II, Meehl P (1977) Genetic theories and the validation of psychiatric diagnoses: implications for the study of children of schizophrenics. J Abn Psychol 86: 575–588

    Article  CAS  Google Scholar 

  • Hodgkinson S, Sherrington R, Gurling H, Marchbanks R, Reeders S, Mallet J, McInnis M, Petursson H, Brynjolfsson J (1987) Molecular genetic evidence for heterogeneity in manic depression. Nature 325: 805–806

    Article  PubMed  CAS  Google Scholar 

  • Holzman PS, Matthysse S (1991) Review: the genetics of schizophrenia. Psychol Sci 1: 279–286

    Article  Google Scholar 

  • Holzman PS, Kringlen E, Matthysse S, Flanagan SD, Lipton RB, Cramer G, Levin S, Lange K, Levy DL (1988) A single dominant gene can account for eye tracking dysfunctions and schizophrenia in offspring of discordant twins. Arch Gen Psychiatry 45: 641–647

    Article  PubMed  CAS  Google Scholar 

  • Hui SL, Walter SD (1980) Estimating the error rates of diagnostic tests. Biometrics 36: 167–171

    Article  PubMed  CAS  Google Scholar 

  • Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G, Houseman DE, Paul SM (1989) Reevaluation of the linkage relationship between chromosome 11 p loci and the gene for bipolar affective disorder in the old order Amish. Nature 342: 238–243

    Article  PubMed  CAS  Google Scholar 

  • Kendler KS, Gruenberg AM, Strauss JS (1981) An independent analysis of the Copenhagen sample of the Danish adoption study of schizophrenia: II. The relationship between schizotypal personality disorder and schizophrenia. Arch Gen Psychiatry 38: 982–984

    Google Scholar 

  • Kendler KS, Gruenberg AM, Tsuang MT (1983) The specificity of DSM-III schizotypal symptoms. Abstracts of 135th Meeting of American Psychiatric Association. APA, Washington, DC Kendler KS, Masterson CC, Ungaro R, Davis KL (1984) A family history study of schizophrenia-related personality disorders. Am J Psychiatry 141: 424–427

    Google Scholar 

  • Kendler KS, Masterson CC, Davis KL (1985) Psychiatric illness in first-degree relatives of patients with paranoid psychosis, schizophrenia, and medical illness. Br J Psychiatry 147: 524

    Article  PubMed  CAS  Google Scholar 

  • Kety SS (1988) Schizophrenic illness in the families of schizophrenic adoptees: findings from the Danish national sample. Schizophr Bull 14: 217–222

    PubMed  CAS  Google Scholar 

  • Kety SS, Rosenthal D, Wender PH, Schulsinger F (1968) The types and prevalence of mental illness in the biological and adoptive families of adopted schizophrenics. J Psychiatr Res 11 Suppl]: 345–362

    Google Scholar 

  • Kety SS, Rosenthal D, Wender PH, Schulsinger F, Jacobsen B (1975) Mental illness in the biological and adoptive families of adopted individuals who have become schizophrenic. In: Fieve RR, Rosenthal D, Brill H (eds) Genetic research in psychiatry. Johns Hopkins University Press, Baltimore.

    Google Scholar 

  • Lander ES (1988) Mapping complex genetic traits in humans. In: KE Davies (ed) Genome analysis: a practical approach. IRL, Washington

    Google Scholar 

  • Martinez M, Khlat M, Leboyer M, Clerget-Darpoux F (1989) Performance of linkage analysis under misclassification error when the genetic model is unknown. Genet Epidemiol 6: 253–258

    Article  PubMed  CAS  Google Scholar 

  • Matthysse S (1985) Genetic latent structure analysis. In: Sakai T, Tsuboi T (eds) Genetic aspects of human behavior. Igaku-Shoin, Tokyo, pp 103–111

    Google Scholar 

  • Matthysse S, Holzman PS, Lange K (1986) The genetic transmission of schizophrenia: application of Mendelian latent structure analysis to eye tracking dysfunctions in schizophrenia and affective disorder. J Psychiatr Res 20: 57–65

    Article  PubMed  CAS  Google Scholar 

  • McClish D, Quade D (1985) Improving estimates of prevalence by repeated testing. Biometrics 41:81–89 McGue M, Gottesman II (1989) Genetic linkage in schizophrenia: perspectives from genetic epidemiology. Schizophr Bull 15: 453–464

    Google Scholar 

  • Merikangas KR, Spence A, Kupfer DJ (1989) Linkage studies of bipolar disorder: methodological and analytic issues. Arch Gen Psychiatry 46: 1137–1141

    Article  PubMed  CAS  Google Scholar 

  • Morton NE (1956) The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 8: 80–96

    PubMed  CAS  Google Scholar 

  • Nissen-Meyer S (1964) Evaluation of screening tests in medical diagnosis. Biometrics 20: 730–755

    Article  Google Scholar 

  • Ott J (1985) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore.

    Google Scholar 

  • Ott J (1990) Cutting a Gordian knot in the linkage analysis of complex human traits. Am J Hum Genet 46: 219–221

    PubMed  CAS  Google Scholar 

  • Ott J (1990) Cutting a Gordian knot in the linkage analysis of complex human traits. Am J Hum Genet 46: 219–221

    PubMed  CAS  Google Scholar 

  • Politser P (1982) Reliability, decision rules, and the value of repeated tests. Medical Decis Making 2 (11:4769)

    Google Scholar 

  • Rice JP, McDonald-Scott P, Endicott J, Coryell W, Grove WM, Keller MB, Altis D (1986) The stability of diagnosis with an application to bipolar II disorder. Psychiatr Res 19: 285–296

    Article  CAS  Google Scholar 

  • Rice JP, Endicott J, Knesevich MA, Rochberg N (1987a) The estimation of diagnostic sensitivity using stability data: an application to major depressive disorder. J Psychiatr Res 21 (4): 337–345

    Article  PubMed  CAS  Google Scholar 

  • Rice J, Reich T, Andreasen NC, Endicott J, Van Eerdewegh M, Fishman R, Hirschfeld RMA, Klerman GL (1987b) The familial transmission of bipolar illness. Arch Gen Psychiatry 44: 441–447

    Article  PubMed  CAS  Google Scholar 

  • Risch N (1990) Genetic linkage and complex diseases, with special reference to psychiatric disorders. Genet Epidemiol 7: 3–7

    Article  PubMed  CAS  Google Scholar 

  • Risch N, Baron M (1984) Segregation analysis of schizophrenia and related disorders. Am J Hum Genet 36: 1039–1059

    PubMed  CAS  Google Scholar 

  • Robins E, Guze SB (1970) Establishment of diagnostic validity in psychiatric illness: its application to schizophrenia. Am J Psychiatry 41959–967

    Google Scholar 

  • Rogers KL, Winokur G (1988) The genetics of schizoaffective disorder and the schizophrenia spectrum. In: Tsuang MT, Simpson JC (eds) Handbook of schizophrenia, vol 3. Elsevier, Amsterdam.

    Google Scholar 

  • Sherrington R, Brynjolfsson J, Petursson H, Potter M, Dudleston K, Barraclough B, Wasmuth J, Dobbs M, Gurling H (1988) Localization of a susceptibility locus for schizophrenia on chromosome 5. Nature 336: 164–167

    Article  PubMed  CAS  Google Scholar 

  • Siever LJ, Gunderson JG (1983) The search for a schizotypal personality: historical origins and current status. Comp Psychiatry 24: 199–212

    Article  CAS  Google Scholar 

  • Squires-Wheeler E, Skodol AE, Bassett A, Erlenmeyer-Kimling L (1989) DSM-III-R schizotypal personality traits in offspring of schizophrenic disorder, affective disorder, and normal control parents. J Psychiatr Res 23 (3/4): 229–239

    CAS  Google Scholar 

  • Tsuang MT, Faraone SV (1990) The genetics of mood disorders. Johns Hopkins University Press, Baltimore Tsuang MT, Woolson RF, Winokur G, Crowe RR (1981) Stability of psychiatric diagnosis: schizophrenia and affective disorder followed up over a 30 to 40-year period. Arch Genet Psychiatry 38: 535–539.

    Article  Google Scholar 

  • Tsuang MT, Faraone SV (1990) The genetics of mood disorders. Johns Hopkins University Press, Baltimore Tsuang MT, Woolson RF, Winokur G, Crowe RR (1981) Stability of psychiatric diagnosis: schizophrenia and affective disorder followed up over a 30 to 40-year period. Arch Genet Psychiatry 38: 535–539.

    Article  Google Scholar 

  • Turner WJ, King S (1983) BPD2 an autosomal dominant form of bipolar affective disorder. Biol Psychiatry 18: 63–87

    PubMed  CAS  Google Scholar 

  • Vogel F, Motulsky AG (1986) Human genetics: problems and approaches ( 2nd edn ). Springer, Berlin Heidelberg New York

    Google Scholar 

  • Vogler GP, Gottesman II, McGue MK, Rao DC (1990) Mixed model segregation analysis of schizophrenia in the Lindelius Swedish pedigrees. Behav Genet 20: 461–472

    Article  PubMed  CAS  Google Scholar 

  • Winokur G (1985) Familial psychopathology in delusional disorder. Comp Psychiatry 26:241–248 Winokur G, Wesner R (1987) From unipolar depression to bipolar illness: 29 who changed. Acta Psychiatr Scand 76: 59–63

    Article  Google Scholar 

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© 1992 Springer-Verlag Berlin Heidelberg

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Tsuang, M.T., Lyons, M.J., Faraone, S.V. (1992). Clinical Phenotypes: Problems in Diagnosis. In: Mendlewicz, J., Hippius, H., Bondy, B., Ackenheil, M., Sandler, M. (eds) Genetic Research in Psychiatry. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-46762-2_15

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  • DOI: https://doi.org/10.1007/978-3-642-46762-2_15

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-46764-6

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