The Approach to Diagnostic Ambiguity

Joseph F. Goldberg; Stephen M. Stahl

doi:10.1017/9781009181549.004

2 - The Approach to Diagnostic Ambiguity

Published online by Cambridge University Press: 25 March 2024

Joseph F. Goldberg and

Stephen M. Stahl

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Joseph F. Goldberg: Affiliation:
Icahn School of Medicine at Mount Sinai, New York
Stephen M. Stahl: Affiliation:
University of California San Diego

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Summary

Clarity about the intended targets of treatment is, by necessity, a prerequisite for any psychiatric or other medical intervention. One cannot make sensible treatment decisions unless one knows with some degree of confidence what exactly constitutes the object of treatment. Yet, by and large, psychiatric diagnoses are made on purely clinical grounds – meaning, they derive from collections of signs and symptoms that cohere in an organized fashion, seldom with definitive corroboration by an external biomarker. (Some exceptions to this might include positive blood or urine toxicology screens to affirm the diagnosis of alcohol or other substance intoxications; low cerebrospinal fluid levels of orexin to diagnose narcolepsy; or neuroimaging or other laboratory tests that affirm an underlying nonpsychiatric medical condition (such as a brain malignancy, or metabolic derangement) that might explain an acute mental status change.) Herein lies a dilemma: while evidence-based treatment means identifying a plausible working diagnosis, categorical diagnoses cannot always be made with the degree of exactitude one might otherwise hope for.

Type: Chapter
Information: Clinical Reasoning and Decision-Making in Psychiatry , pp. 26 - 51

DOI: https://doi.org/10.1017/9781009181549.004 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2024

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References

Agnew-Blais, JC, Polanczyk, GV, Danese, A, et al.Evaluation of the persistence, remission, and emergence of attention-deficit/hyperactivity disorder in young adulthood. JAMA Psychiatry 2016; 73: 713–720CrossRef Google Scholar PubMed

American Psychiatric Association.Diagnostic and Statistical Manual of Mental Disorders, 4th edition. Washington, DC: American Psychiatric Association, 1994Google Scholar

American Psychiatric Association.Diagnostic and Statistical Manual of Mental Disorders, 5th edition. Washington, DC: American Psychiatric Association, 2013Google Scholar

Anglin, RES, Samaan, Z, Walter, SD, et al.Vitamin D deficiency and depression in adults: Systematic review and meta-analysis. Br J Psychiatry 2013; 202: 100–107CrossRef Google Scholar PubMed

Angst, J, Gamma, A, Sellaro, R, et al.Recurrence of bipolar disorders and major depression. A life-long perspective. Eur Arch Psychiatry Clin Neurosci 2003; 253: 236–240CrossRef Google Scholar PubMed

Antila, M, Tuulio-Henrikkson, A, Kieseppä, T, et al.Heritability of cognitive functions in families with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007; 144B: 802–808CrossRef Google Scholar PubMed

Ballard, ED, Cui, L, Vandeleur, C, et al.Familial aggregation and coaggregation of suicide attempts and comorbid mental disorders in adults. JAMA Psychiatry 2019; 76: 826–833CrossRef Google Scholar PubMed

Behrendt, S, Beesdo-Baum, K, Höfler, M, et al.The relevance of age at first alcohol and nicotine use for initiation of cannabis use and progression to cannabis use disorders. Drug Alcohol Depend 2012; 123: 48–56CrossRef Google Scholar PubMed

Biederman, J, Faraone, SV, Keenan, K, et al.Evidence of familial association between attention deficit disorder and major affective disorders. Arch Gen Psychiatry 1991; 48: 633–642CrossRef Google Scholar PubMed

Biederman, J, Lindsten, A, Sluth, LB, et al.Vortioxetine for attention deficit hyperactivity disorder in adults: A randomized, double-blind, placebo-controlled, proof-of-concept study. J Psychopharmacol 2019; 33: 511–521CrossRef Google Scholar PubMed

Bolton, S, Warner, J, Harriss, E, et al.Bipolar disorder: Trimodal age-at-onset distribution. Bipolar Disord 2021; 23: 341–356CrossRef Google Scholar PubMed

Caton, CLM, Drake, RE, Hasin, DS, et al.Differences between early-phase primary psychotic disorders with concurrent substance use and substance-induced psychoses. Arch Gen Psychiatry 2005; 62: 137–145CrossRef Google Scholar PubMed

Caye, A, Rocha, T B-M, Anselmi, L, et al.Attention-deficit/hyperactivity disorder trajectories from childhood to young adulthood: Evidence from a birth cohort supporting a late-onset syndrome. JAMA Psychiatry 2016; 73: 705–712CrossRef Google Scholar PubMed

Chen, M-H, Pan, T-L, Huang, K-L, et al.Coaggregation of major psychiatric disorders in first-degree relatives of individuals with attention-deficit/hyperactivity disorder: A nationwide population-based study. J Clin Psychiatry 2019; 80(3): 18m12371CrossRef Google Scholar PubMed

Cheng, C-M, Chang, W-H, Chen, M-H, et al.Co-aggregation of major psychiatric disorders in individuals with first-degree relatives with schizophrenia: A nationwide population-based study. Mol Psychiatry 2018; 23: 1756–1763CrossRef Google Scholar PubMed

Contreras, J, Hare, E, Pachico, A, et al.Is subclinical anxiety an endophenotype for bipolar I patients? A study from a Costa Rican sample. J Affect Disord 2010; 122: 267–272CrossRef Google Scholar PubMed

Coppen, A, Bolander-Gouialle, C.Treatment of depression: Time to consider folic acid and vitamin B₁₂. J Psychopharmacol 2005; 19: 59–65CrossRef Google Scholar PubMed

de Lijster, J, Dierckx, B, Utens, EMWJ et al.The age of onset of anxiety disorders. Can J Psychiatry 2017; 62: 237–246CrossRef Google Scholar

Faraone, SV, Biederman, J.Do attention deficit hyperactivity disorder and major depression share familial risk factors? J Nerv Ment Dis 1997; 185: 533–541CrossRef Google Scholar PubMed

Fisfalen, ME, Schulze, TG, DePaulo, JR, et al.Familial variation in episode frequency in bipolar affective disorder. Am J Psychiatry 2005; 162: 1266–1272CrossRef Google Scholar PubMed

Fornaro, M, Anastasia, A, Novello, S, et al.Incidence, prevalence and clinical correlates of antidepressant-emergent mania in bipolar depression: A systematic review and meta-analysis. Bipolar Disord 2018; 20: 195–227CrossRef Google Scholar PubMed

Galtress, T, Marshall, AT, Kirkpatrick, K.Motivation and timing: Clues for modeling the reward system. Behav Processes 2012; 90: 142–153CrossRef Google Scholar PubMed

Geller, B, Cooper, TB, Zimerman, B, et al.Lithium for prepubertal depressed children with family history predictors of future bipolarity: A double-blind, placebo-controlled study. J Affect Disord 1998; 51: 165–175CrossRef Google Scholar PubMed

Goldberg, JF.Determining patient candidacy for antidepressant use in bipolar disorder. Psychiatr Ann 2019; 49: 386–391CrossRef Google Scholar

Goldberg, JF, Garakani, A, Ackerman, SH.Clinician-rated versus self-rated screening for bipolar disorder among inpatients with mood symptoms and substance misuse. J Clin Psychiatry 2012; 73: 1525–1530CrossRef Google Scholar PubMed

Goldstein, RB, Weissman, MM, Adams, PB, et al.Psychiatric disorders in relatives of probands with panic disorder and/or major depression. Arch Gen Psychiatry 1994; 51: 383–394CrossRef Google Scholar PubMed

Goldstein, TR, Frye, MA, Denicoff, KD, et al.Antidepressant discontinuation-related mania: Critical prospective observation and theoretical implications in bipolar disorder. J Clin Psychiatry 1999; 60: 563–567CrossRef Google Scholar PubMed

Gommoll, C, Durgam, S, Mathews, M, et al.A double-blind, randomized, placebo-controlled, fixed-dose phase III study of vilazodone in patients with generalized anxiety disorder. Depress Anxiety 2015; 32: 451–459CrossRef Google Scholar PubMed

Henry, C, Mitropoulou, V, New, AS, et al.Affective instability and impulsivity in borderline personality and bipolar II disorders: Similarities and differences. J Psychiatr Res 2001; 35: 307–312CrossRef Google Scholar PubMed

Hirschfeld-Becker, DR, Micco, JA, Henin, A, et al.Psychopathology in adolescent offspring of parents with panic disorder, major depression, or both: A 10-year follow-up. Am J Psychiatry 2012; 169: 1175–1184CrossRef Google Scholar

Huang, M-H, Cheng, C-M, Tsai, S-J, et al.Familial coaggregation of major psychiatric disorders among first-degree relatives of patients with obsessive–compulsive disorder: A nationwide study. Psychol Med 2021; 51: 680–687CrossRef Google Scholar PubMed

Husain-Krautter, S, Ellison, JM.Late-life depression: The essentials and the essential distinctions. Focus (Am Psychiatr Publ) 2021; 19: 282–293Google Scholar PubMed

Keown-Stoneman, CDG, Goodday, SM, Preisig, M, et al.Development and validation of a risk calculator for major mood disorders among the offspring of bipolar parents using information collected in routine clinical practice. EClincalMedicine 2021; 39: 101083CrossRef Google Scholar PubMed

Kessler, RC, Berglund, P, Demler, O, et al.Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch General Psychiatry 2005; 62: 593–602CrossRef Google Scholar PubMed

Krynicki, CR, Upthegrove, R, Deakin, JFW, et al.The relationship between negative symptoms and depression in schizophrenia: A systematic review. Acta Psychiatr Scand 2018; 137: 380–390CrossRef Google Scholar PubMed

Lewis, SJ, Arseneault, L, Caspi, A, et al.The epidemiology of trauma and post-traumatic stress disorder in a representative cohort of young people in England and Wales. Lancet Psychiatry 2019; 6: 247–256CrossRef Google Scholar

Li, TK, Hewitt, BG, Grant, BF.Alcohol use disorders and mood disorders: A National Institute on Alcohol Abuse and Alcoholism perspective. Biol Psychiatry 2004; 56: 718–720CrossRef Google Scholar PubMed

Low, NCP, Cui, L, Merikangas, KR.Specificity of familial transmission of anxiety and comorbid disorders. J Psychiatr Res 2008; 42: 596–604CrossRef Google Scholar PubMed

MacKinnon, DF, Pies, R.Affective instability as rapid cycling: Theoretical and clinical implications for borderline personality and bipolar spectrum disorders. Bipolar Disord 2006; 8: 1–14CrossRef Google Scholar PubMed

MacKinnon, DF, Zandi, PP, Cooper, J, et al.Comorbid bipolar disorder and panic disorder in families with a high prevalence of bipolar disorder. Am J Psychiatry 2002; 159: 30–35CrossRef Google Scholar PubMed

MacKinnon, DF, Zandi, PP, Gershon, E, et al.Rapid switching of mood in families with multiple cases of bipolar disorder. Arch Gen Psychiatry 2003; 60: 921–928CrossRef Google Scholar PubMed

Mann, JJ, Bortinger, J, Oquendo, MA, et al.Family history of suicidal behavior and mood disorders in probands with mood disorders. Am J Psychiatry 2005; 162: 1672–1679CrossRef Google Scholar PubMed

McIntyre, RS, Lophaven, S, Olsen, CK.A randomized, double-blind, placebo-controlled study of vortioxetine on cognitive function in depressed adults. Int J Neuropsychopharmacol 2014; 17: 1557–1567CrossRef Google Scholar PubMed

Merikangas, KR, Stevens, DE, Fenton, B, et al.Co-morbidity and familial aggregation of alcoholism and anxiety disorders. Psychol Med 1998; 28: 773–788CrossRef Google Scholar PubMed

Mistry, S, Harrison, JR, Smith, DJ, et al.The use of polygenic risk scores to identify phenotypes associated with genetic risk of bipolar disorder and depression: A systematic review. J Affect Disord 2018; 234: 148–155CrossRef Google Scholar PubMed

Nasreddine, ZS, Phillips, NA, Bédirian, V, et al.The Montreal Cognitive Assessment, MoCA: A brief screening tool for mild cognitive impairment. J Am Geriatr Soc 2005; 53: 695–699CrossRef Google Scholar

Nunes, EV, Liu, X, Samet, S, et al.Independent versus substance-induced major depressive disorder in substance-dependent patients: Observational study of course during follow-up. J Clin Psychiatry 2006; 67: 1561–1567CrossRef Google Scholar PubMed

Nurnberger, JI Jr., Blehar, MC, Kauffman, CA, et al.Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 1994; 51: 849–859CrossRef Google Scholar PubMed

Ochoa, S, Usall, J, Cobo, J, et al.Gender differences in schizophrenia and first-episode psychosis: A comprehensive literature review. Schiz Res Treat 2012; 916198CrossRef Google Scholar

Puig-Antich, J, Goetz, D, Davies, M, et al.A controlled family history study of prepubertal major depressive disorder. Arch Gen Psychiatry 1989; 46: 406–418CrossRef Google Scholar PubMed

Quick, CR, Conway, KP, Swendsen, J, et al.Comorbidity and coaggregation of major depressive disorder and bipolar disorder and cannabis use disorder in a controlled family study. Arch Gen Psychiatry 2022; 79: 727–735Google Scholar

Reich, T, Edenberg, HJ, Goate, A, et al.Genome-wide search for genes affecting the risk for alcohol dependence. Am J Med Genet 1998; 81: 207–2153.0.CO;2-T>CrossRef Google Scholar PubMed

Robins, E, Guze, SB.Establishment of diagnostic validity in psychiatric illness: Its application to schizophrenia. Am J Psychiatry 1970; 126: 983–987CrossRef Google Scholar PubMed

Rosenblat, JD, Kakar, RM, McIntyre, RS.The cognitive effects of antidepressants in major depressive disorder: A systematic review and meta-analysis of randomized clinical trials. Int J Neuropsychopharmacol 2015; 19: pyv082Google Scholar PubMed

Ruscio, AM, Stein, DJ, Chiu, WT, et al.The epidemiology of obsessive–compulsive disorder in the National Comorbidity Survey replication. Mol Psychiatry 2010; 15: 53–63CrossRef Google Scholar PubMed

Sanchez-Gistau, V, Romero, S, Moreno, D, et al.Psychiatric disorders in child and adolescent offspring of patients with schizophrenia and bipolar disorder: A controlled study. Schizophr Res 2015; 168(1–2): 197–203CrossRef Google Scholar PubMed

Sbrana, A, Bizzarri, JV, Rucci, P, et al.Family history of psychiatric disorders and alcohol and substance misuse in patients with bipolar I disorder, substance use disorder, or both. Am J Addict 2007; 16: 227–231CrossRef Google Scholar PubMed

Solmi, M, Radua, J, Olivola, M, et al.Age at onset of mental disorders worldwide: Large-scale meta-analysis of 192 epidemiological studies. Mol Psychiatry 2022; 27: 281–295CrossRef Google Scholar PubMed

Solomon, DA, Leon, AC, Coryell, WH, et al.Longitudinal course of bipolar I disorder: Duration of mood episodes. Arch Gen Psychiatry 2010; 67: 339–347CrossRef Google Scholar PubMed

Thase, ME, Chen, D, Edwards, J, et al.Efficacy of vilazodone on anxiety symptoms in patients with major depressive disorder. Int Clin Psychopharmacol 2014; 29: 351–356CrossRef Google Scholar PubMed

Toth, M.5-HT1A receptor knockout mouse as a genetic model of anxiety. Eur J Pharmacol 2003; 463(1–3): 177–184CrossRef Google Scholar PubMed

Weisaeth, L.Vulnerability and protective factors for posttraumatic stress disorder. Psychiatry Clin Neurosci 1998; 52: S39–S44CrossRef Google Scholar

Welham, JL, Thomis, RJ, McGrath, JJ.Age-at-first-registration for affective psychosis and schizophrenia. Schiz Bull 2004; 30: 849–853CrossRef Google Scholar PubMed

Wilens, TE, Biederman, J, Adamson, J, et al.Association of bipolar and substance use disorders in parents of adolescents with bipolar disorder. Biol Psychiatry 2007; 62: 129–134CrossRef Google Scholar PubMed

Zinbarg, RE, Barlow, DH, Liebowitz, M, et al.The DSM-IV field trial for mixed anxiety–depression. Am J Psychiatry 1994; 151: 1153–1162Google Scholar PubMed