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Diagnoses

Value and Limitations
  • Rudolf UherEmail author
Living reference work entry
  • 10 Downloads
Part of the Mental Health and Illness Worldwide book series (MHIW)

Abstract

Making a diagnosis is a fundamental part of child and adolescent psychiatry that facilitates communication and provision of care. The International Classification of Diseases and the Diagnostic and Statistical Manual of Mental Disorders codify universal definitions of mental disorders and provide operationalized criteria that improve their reliability. However, diagnoses of mental disorders do not reflect distinct entities with known causes. Many mental disorders lie on a continuum and cannot be unambiguously separated from normality or from one another. Comorbidity, heterogeneity, overspecification, overdiagnosis, and stigma have emerged as major challenges to the use of current diagnostic systems. Prototypic diagnoses and dimensional systems have been proposed as alternatives. Yet, a universal categorical system is necessary to support clinical decisions and effective communication. The present systems are imperfect but useful. Appropriate diagnosis makes it more likely that patients receive treatments from which they will benefit. Universality and continuity of diagnostic systems facilitate discoveries and enable evidence-based treatment. This chapter provides a summary of knowledge supporting the use of the present diagnostic systems and provides guidance on using diagnostic categories for the benefit of patients.

Keywords

Mental disorders Classification of diseases Validity of diagnosis Overdiagnosis Misdiagnosis Dimensional and categorical models 

References

  1. Albert DA, Munson R, Resnik MD (1988) Reasoning in medicine. Johns Hopkins University Press, BaltimoreGoogle Scholar
  2. Allegrini AG, Cheesman R, Rimfeld K, Selzam S, Pingault JB, Eley TC, Plomin R (2020) The p factor: genetic analyses support a general dimension of psychopathology in childhood and adolescence. J Child Psychol Psychiatry 61:30–39PubMedCrossRefPubMedCentralGoogle Scholar
  3. Caspi A, Houts RM, Belsky DW, Goldman-Mellor SJ, Harrington H, Israel S, Meier MH, Ramrakha S, Shalev I, Poulton R, Moffitt TE (2014) The p factor: one general psychopathology factor in the structure of psychiatric disorders? Clin Psychol Sci 2:119–137PubMedPubMedCentralCrossRefGoogle Scholar
  4. Caye A, Rocha TB, Anselmi L, Murray J, Menezes AM, Barros FC, Goncalves H, Wehrmeister F, Jensen CM, Steinhausen HC, Swanson JM, Kieling C, Rohde LA (2016) Attention-deficit/hyperactivity disorder trajectories from childhood to young adulthood: evidence from a birth cohort supporting a late-onset syndrome. JAMA Psychiat 73:705–712CrossRefGoogle Scholar
  5. Coon ER, Quinonez RA, Moyer VA, Schroeder AR (2014) Overdiagnosis: how our compulsion for diagnosis may be harming children. Pediatrics 134:1013–1023PubMedCrossRefPubMedCentralGoogle Scholar
  6. Copeland WE, Adair CE, Smetanin P, Stiff D, Briante C, Colman I, Fergusson D, Horwood J, Poulton R, Costello EJ, Angold A (2013) Diagnostic transitions from childhood to adolescence to early adulthood. J Child Psychol Psychiatry 54:791–799PubMedPubMedCentralCrossRefGoogle Scholar
  7. Copeland WE, Wolke D, Shanahan L, Costello EJ (2015) Adult functional outcomes of common childhood psychiatric problems: a prospective, longitudinal study. JAMA Psychiat 72:892–899CrossRefGoogle Scholar
  8. Cross-Disorder Group of the Psychiatric Genomics Consortium (2019) Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell 179:1469–1482CrossRefGoogle Scholar
  9. Feighner JP, Robins E, Guze SB, Woodruff RA Jr, Winokur G, Munoz R (1972) Diagnostic criteria for use in psychiatric research. Arch Gen Psychiatry 26:57–63PubMedCrossRefPubMedCentralGoogle Scholar
  10. Haggerty G, Zodan J, Mehra A, Zubair A, Ghosh K, Siefert CJ, Sinclair SJ, DeFife J (2016) Reliability and validity of prototype diagnosis for adolescent psychopathology. J Nerv Ment Dis 204:287–290PubMedCrossRefPubMedCentralGoogle Scholar
  11. Hyman SE (2010) The diagnosis of mental disorders: the problem of reification. Annu Rev Clin Psychol 6:155–179PubMedCrossRefPubMedCentralGoogle Scholar
  12. Insel T (2013) Transforming diagnosis. NIH Director Blog. www.nimh.nih.gov/directors/thomas-insel/blog/2013/transforming-diagnosis.shtml
  13. Kaess M, Brunner R, Chanen A (2014) Borderline personality disorder in adolescence. Pediatrics 134:782–793PubMedCrossRefPubMedCentralGoogle Scholar
  14. Kessler RC (2002) The categorical versus dimensional assessment controversy in the sociology of mental illness. J Health Soc Behav 43:171–188PubMedCrossRefPubMedCentralGoogle Scholar
  15. Kim-Cohen J, Caspi A, Moffitt TE, Harrington H, Milne BJ, Poulton R (2003) Prior juvenile diagnoses in adults with mental disorder: developmental follow-back of a prospective-longitudinal cohort. Arch Gen Psychiatry 60:709–717PubMedCrossRefPubMedCentralGoogle Scholar
  16. Krueger RF, Kotov R, Watson D, Forbes MK, Eaton NR, Ruggero CJ, Simms LJ, Widiger TA, Achenbach TM, Bach B, Bagby RM, Bornovalova MA, Carpenter WT, Chmielewski M, Cicero DC, Clark LA, Conway C, DeClercq B, DeYoung CG, Docherty AR, Drislane LE, First MB, Forbush KT, Hallquist M, Haltigan JD, Hopwood CJ, Ivanova MY, Jonas KG, Latzman RD, Markon KE, Miller JD, Morey LC, Mullins-Sweatt SN, Ormel J, Patalay P, Patrick CJ, Pincus AL, Regier DA, Reininghaus U, Rescorla LA, Samuel DB, Sellbom M, Shackman AJ, Skodol A, Slade T, South SC, Sunderland M, Tackett JL, Venables NC, Waldman ID, Waszczuk MA, Waugh MH, Wright AGC, Zald DH, Zimmermann J (2018) Progress in achieving quantitative classification of psychopathology. World Psychiatry 17:282–293PubMedPubMedCentralCrossRefGoogle Scholar
  17. Meier SM, Pavlova B, Dalsgaard S, Nordentoft M, Mors O, Mortensen PB, Uher R (2018) Attention-deficit hyperactivity disorder and anxiety disorders as precursors of bipolar disorder onset in adulthood. Br J Psychiatry 213:555–560PubMedCrossRefPubMedCentralGoogle Scholar
  18. Merten EC, Cwik JC, Margraf J, Schneider S (2017) Overdiagnosis of mental disorders in children and adolescents (in developed countries). Child Adolesc Psychiatry Ment Health 11:5PubMedPubMedCentralCrossRefGoogle Scholar
  19. Moffitt TE, Caspi A, Harrington H, Milne BJ, Melchior M, Goldberg D, Poulton R (2007) Generalized anxiety disorder and depression: childhood risk factors in a birth cohort followed to age 32. Psychol Med 37:441–452PubMedCrossRefPubMedCentralGoogle Scholar
  20. Moffitt TE, Houts R, Asherson P, Belsky DW, Corcoran DL, Hammerle M, Harrington H, Hogan S, Meier MH, Polanczyk GV, Poulton R, Ramrakha S, Sugden K, Williams B, Rohde LA, Caspi A (2015) Is adult ADHD a childhood-onset neurodevelopmental disorder? Evidence from a four-decade longitudinal cohort study. Am J Psychiatry 172:967–977PubMedPubMedCentralCrossRefGoogle Scholar
  21. Mojtabai R, Stuart EA, Hwang I, Susukida R, Eaton WW, Sampson N, Kessler RC (2015) Long-term effects of mental disorders on employment in the National Comorbidity Survey ten-year follow-up. Soc Psychiatry Psychiatr Epidemiol 50:1657–1668PubMedPubMedCentralCrossRefGoogle Scholar
  22. Moreno C, Laje G, Blanco C, Jiang H, Schmidt AB, Olfson M (2007) National trends in the outpatient diagnosis and treatment of bipolar disorder in youth. Arch Gen Psychiatry 64:1032–1039PubMedCrossRefGoogle Scholar
  23. Nakash O, Nagar M, Bentov-Gofrit D, Md E, Amiaz R, Lev-Ran S, Westen D (2018) Validity and clinical utility of DSM and prototype diagnosis for depressive and anxiety spectrum disorders in predicting adaptive functioning. Psychiatry Res 270:50–56PubMedCrossRefGoogle Scholar
  24. Parens E, Johnston J (2011) Troubled children: diagnosing, treating and attending to context. Hastings Cent Rep 41:1–32CrossRefGoogle Scholar
  25. Pine DS, Fox NA (2015) Childhood antecedents and risk for adult mental disorders. Annu Rev Psychol 66:459–485PubMedCrossRefGoogle Scholar
  26. Pinker S (2018) Enlightenment now: the case for reason, science, humanism and progress. Viking Penguin, New YorkGoogle Scholar
  27. Raman SR, Man KKC, Bahmanyar S, Berard A, Bilder S, Boukhris T, Bushnell G, Crystal S, Furu K, KaoYang YH, Karlstad O, Kieler H, Kubota K, Lai EC, Martikainen JE, Maura G, Moore N, Montero D, Nakamura H, Neumann A, Pate V, Pottegard A, Pratt NL, Roughead EE, Macias Saint-Gerons D, Sturmer T, Su CC, Zoega H, Sturkenbroom MCJM, Chan EW, Coghill D, Ip P, Wong ICK (2018) Trends in attention-deficit hyperactivity disorder medication use: a retrospective observational study using population-based databases. Lancet Psychiatry 5:824–835PubMedCrossRefGoogle Scholar
  28. Rasic D, Hajek T, Alda M, Uher R (2014) Risk of mental illness in offspring of parents with schizophrenia, bipolar disorder, and major depressive disorder: a meta-analysis of family high-risk studies. Schizophr Bull 40:28–38PubMedCrossRefPubMedCentralGoogle Scholar
  29. Ross CA, Margolis RL (2018) Research domain criteria: cutting edge neuroscience or Galen’s humors revisited? Mol Neuropsychiatry 4:158–163PubMedPubMedCentralCrossRefGoogle Scholar
  30. Ross CA, Margolis RL (2019) Research domain criteria: strengths, weaknesses, and potential alternatives for future psychiatric research. Mol Neuropsychiatry 5:218–236PubMedPubMedCentralCrossRefGoogle Scholar
  31. Ruscio AM, Chiu WT, Roy-Byrne P, Stang PE, Stein DJ, Wittchen HU, Kessler RC (2007) Broadening the definition of generalized anxiety disorder: effects on prevalence and associations with other disorders in the National Comorbidity Survey Replication. J Anxiety Disord 21:662–676PubMedCrossRefPubMedCentralGoogle Scholar
  32. Rutter M (1989) Child psychiatric disorders in ICD-10. J Child Psychol Psychiatry 30:499–513PubMedCrossRefPubMedCentralGoogle Scholar
  33. Rutter M, Uher R (2012) Classification issues and challenges in child and adolescent psychopathology. Int Rev Psychiatry 24:514–529PubMedCrossRefPubMedCentralGoogle Scholar
  34. Sayal K, Chudal R, Hinkka-Yli-Salomaki S, Joelsson P, Sourander A (2017) Relative age within the school year and diagnosis of attention-deficit hyperactivity disorder: a nationwide population-based study. Lancet Psychiatry 4:868–875PubMedCrossRefPubMedCentralGoogle Scholar
  35. Spitzer RL, Forman JB, Nee J (1979) DSM-III field trials: I. Initial interrater diagnostic reliability. Am J Psychiatry 136:815–817PubMedCrossRefPubMedCentralGoogle Scholar
  36. Stein DJ, Phillips KA, Bolton D, Fulford KW, Sadler JZ, Kendler KS (2010) What is a mental/psychiatric disorder? From DSM-IV to DSM-V. Psychol Med 40:1759–1765PubMedPubMedCentralCrossRefGoogle Scholar
  37. Stringaris A (2017) Editorial: what is depression? J Child Psychol Psychiatry 58:1287–1289PubMedCrossRefPubMedCentralGoogle Scholar
  38. Uher R, Rutter M (2012a) Basing psychiatric classification on scientific foundation: problems and prospects. Int Rev Psychiatry 24:591–605PubMedCrossRefPubMedCentralGoogle Scholar
  39. Uher R, Rutter M (2012b) Classification of feeding and eating disorders: review of evidence and proposals for ICD-11. World Psychiatry 11:80–92PubMedPubMedCentralCrossRefGoogle Scholar
  40. Walker ER, McGee RE, Druss BG (2015) Mortality in mental disorders and global disease burden implications: a systematic review and meta-analysis. JAMA Psychiat 72:334–341CrossRefGoogle Scholar
  41. Wittchen HU, Zhao S, Kessler RC, Eaton WW (1994) DSM-III-R generalized anxiety disorder in the National Comorbidity Survey. Arch Gen Psychiatry 51:355–364PubMedCrossRefGoogle Scholar
  42. World Health Organization (1996) Multiaxial classification of child and adolescent psychiatric disorders. Cambridge University Press, CambridgeCrossRefGoogle Scholar
  43. ZERO TO THREE (1994) Diagnostic classification of mental health and developmental disorders of infancy and early childhood (DC:0–3). Authors, Washington, DCGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2020

Authors and Affiliations

  1. 1.Department of PsychiatryDalhousie UniversityHalifaxCanada

Section editors and affiliations

  • F Verhulst
    • 1
  1. 1.Department of Child and Adolescent PsychiatryErasmus UniversityRotterdamThe Netherlands

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