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FORUM – CLINICAL UTILITY VS.

VALIDITY IN PSYCHIATRIC DIAGNOSIS

Psychiatric classifications: validity and utility


Assen Jablensky
Centre for Clinical Research in Neuropsychiatry, University of Western Australia, Perth, WA 6000, Australia

Despite historical assumptions to the contrary, there is little evidence that the majority of recognized mental disorders are separated by natural
boundaries. Diagnostic categories defined by their clinical syndromes should be regarded as ‘valid’ only if they have been shown to be truly dis-
crete entities. Most diagnostic concepts in psychiatry have not been demonstrated to be valid in this sense, though many possess ‘utility’ by vir-
tue of the information they convey about presenting symptoms, outcome, treatment response and, in some instances, aetiology. While
researchers in genetics, neurobiology and population epidemiology are increasingly more likely to adopt a continuum/dimensional view of the
variation in symptomatology, clinicians prefer to hold on to the categorical approach embodied in current classifications such as ICD-10 and
DSM-5. Both points of view have plausible justification in their respective contexts, but the way forward may be in their conceptual recon-
ciliation.

Key words: Psychiatric diagnosis, psychiatric classification, validity, utility, DSM, ICD

(World Psychiatry 2016;15:26–31)

In his Philosophical Remarks, L. Witt- THE NATURE OF PSYCHIATRIC relevant to those needs (though progress
genstein commented that “the classifica- CLASSIFICATIONS in medical research usually precedes,
tions made by philosophers and psy- rather than follows, improvements in
chologists are as if one were to classify The term nosology refers to the theory classification). Simply stating that medi-
clouds by their shape”1. The metaphor is about the nature of medical conditions cal classifications classify diseases (or
apt: clouds have fuzzy boundaries, tend and the principles and rules of their classi- that psychiatric classifications classify
to merge imperceptibly, and drift, being fication. In psychiatry, we are still facing disorders) begs the question, as the
carried by invisible air currents. Observa- the recurrent question about the nosologi- status of concepts like “disease” and
tion and measurement of their move- cal status of the brain and mind disorders “disorder” remains obscure3.
ment predict, within a margin of error, that constitute the core of the discipline. As pointed out by Scadding4, the con-
the weather, yet the inner physical and Are we dealing with discrete entities, or cept of “disease” has evolved with the
chemical structure of clouds is hidden to with graded continuous phenomena to advance of medical knowledge, and is at
the naked eye. which we can apply cut-off points to sepa- present no more than “a convenient
Wittgenstein’s aphoristic remark ap- rate “pathology” from “normal variation” device by which we can refer succinctly
plies equally well to the classifications and to determine the need for treatment? to the conclusion of a diagnostic process
developed by psychiatrists: the concep- What is the relationship between the clini- which starts from recognition of a pat-
tual outlines of syndromes and putative cal manifestations of a disorder and the tern of symptoms and signs, and pro-
disease entities tend to change with suc- underlying brain dysfunction, pathologi- ceeds, by investigation of varied extent
cessive revisions of their classification, cal processes or predisposing genetic aber- and complexity, to an attempt to unravel
relative to their utility for predicting rations? the chain of causation”. “Disease”, there-
course, outcome and likely response to Notwithstanding the advances in the fore, is an explanatory construct integrat-
available treatments, even if their inner neuroscience and genetics of psychiatric ing information about deviance from the
biological and psychological structure is disorders, many of the present-day an- population “norm”; characteristic clinical
not fully understood. The latter, the quest swers to these questions are a replay of manifestations; characteristic pathology;
for validity of our concepts, remains an debates that took place in the earlier peri- underlying causes; and reduced biologi-
open agenda. ods of scientific psychiatry. This suggests cal fitness.
In anticipation of this, the protago- that there may be inherent shortcomings For a cluster of such attributes to be
nist of modern psychiatric nosology in the nosological classifications in clini- referred to as “a disease”, these character-
E. Kraepelin stated in one of his last cal psychiatry adopted since the begin- istics must be shown to form a “real-world
articles, Patterns of Mental Disorder, ning of the 20th century and all the way correlational structure”5, which must be
that “it is necessary to turn away from to the present versions of DSM and ICD. stable and distinct from other similar
arranging illnesses in orderly well- Medical classifications are created structures. The typical progression of
defined groups, and to set ourselves the with the primary purpose of meeting knowledge starts with the identification
undoubtedly higher and more satisfying pragmatic needs related to diagnosing of the clinical manifestations (the syn-
goal of understanding their essential and treating people experiencing ill- drome) and the deviance from the
structure”2. This goal of validity is yet to nesses. Their secondary purpose is to “norm”; understanding of the pathology
be attained. assist the generation of new knowledge and aetiology usually comes much later.

26 World Psychiatry 15:1 - February 2016


However, there is no fixed point or agreed order, and ought to be re-diagnosed if has been known for a long time, but the
threshold beyond which a syndrome can lasting recovery occurs, contradicts the difficulty was thought to reside in the
be said to be “a disease”. Today, Alzheimer’s findings of two important World Health imprecise definition of the diagnostic cri-
disease, with dementia as its syndrome, Organization (WHO) studies: the Interna- teria, rather than in the existence of a
characteristic brain morphology, tentative tional Pilot Study of Schizophrenia (IPSS)9 large group of conditions which simply
pathophysiology, and at least partially and the subsequent Study on Determi- defy the dichotomy and exhibit the fea-
understood causes, is one of the few con- nants of Outcome of Severe Mental Disor- tures of a clinical “hybrid”. This group has
ditions in psychiatric classifications that ders10. In the IPSS, cases were diagnosed attracted a variety of diagnostic labels,
approximates the disease construct. The in a restrictive way by applying three sets including “schizoaffective disorder”13 or
majority of the “disorders” in our current of criteria: clinician’s diagnosis according “unsystematic schizophrenias”14, and was
classifications are, at best, described as to ICD; computer diagnosis using the classified alternately with the schizophre-
syndromes6. CATEGO algorithm; and empirical group- nias or with the affective disorders, but
The essential task in the construction ing of cases by cluster analysis, on the never found a comfortable place in either
of a nosology of discrete disease entities basis of maximum shared characteristics. category. The existence of such “hybrid”
is to identify internally cohesive clinical Patients who met simultaneously the cases poses the problem of defining the
groupings based on established inter- three sets of criteria were designated as a borderline between the two disorders.
correlations among symptoms and syn- “core” or “concordant” group of schizo- One alternative solution is to treat the
dromes (the cross-section) and patterns phrenia, that was expected to be more poor prognosis schizophrenia and the
of course and outcome (the longitudinal homogeneous than the rest of the cases. good prognosis affective disorders as two
aspect). Individual groupings should be However, the follow-up data did not reveal extremes on a single clinical (and pre-
separated from one another by demon- any significant differences in course and sumably genetic) continuum that could
strable natural boundaries, or a “zone of outcome between the concordant cases include all kinds of intermediate forms.
rarity”7. The test of their validity is the and the non-concordant ones. A third problem for which the classi-
degree to which they are found to be Such findings do not stand alone: a cal nosological theory has failed to find
associated with explanatory variables of number of recent follow-up studies con- an acceptable solution is the classifi-
deeper structural significance – potential firm the notion that severe deterioration cation of the sub-threshold, practically
causal factors, pathogenetic mechanisms, is not the typical outcome of schizo- non-pathological forms of cognitive and
treatment response, as well as stability phrenia, even if a very long follow-up affective deviations and the unusual per-
vis-a-vis demographic and cultural varia- period is involved. According to the sonalities which are encountered among
tion. However, nosological entities in WHO Report on Recovery from Schizo- biological relatives of schizophrenia pa-
psychiatry, constructed according to such phrenia11, which integrated findings from tients. The importance and relative fre-
idealized desiderata, have met with dif- several long-term follow-up studies con- quency of these variants were clearly
ficulties. ducted under the aegis of WHO, “the recognized by Bleuler15, who coined the
The first problem is that, on the ex- most striking overall finding. . . is that term “latent schizophrenia”, and they
amples of schizophrenia and affective the current global status of over half of were subsequently reported by a bewil-
disorders, the requirement of a close cor- these subjects – 56% of the incidence dering variety of diagnostic labels: “ambu-
respondence between the cross-section group and 60% of the prevalence group latory schizophrenia”16, “pseudoneurotic
of the disorder and the patterns of its – is rated as “recovered”. Nearly half schizophrenia”17, “borderline schizo-
course and outcome was never fully have experienced no psychotic episodes phrenia” or “schizotypal personality dis-
met. Recent attempts to identify in the in the last 2 years of follow-up. . . These order”18 and, more recently, “attenuated
early, high-risk or prodromal state, symp- percentages accord fairly well with rat- psychotic syndrome”19. None of these
toms and signs that reliably predict ings of both current symptoms and terms has been universally accepted, nor
transition to full-blown psychosis have functioning”11. These findings suggest have their diagnostic criteria been un-
not been successful8. It has been further- that the prognosis of schizophrenia is an equivocally defined. Epidemiological and
more demonstrated in follow-up studies open-ended dynamic process whose genetic evidence has provided support
that a proportion of initially “typical” direction can, within limits, be modified for a link of those subclinical conditions
schizophrenias may recover, while a pro- at any point. The presumed “charac- to “core” schizophrenia, strengthening
portion of “typical” manic-depressive ill- teristic” psychopathological phenomena, the concept of a schizophrenia “spec-
nesses may run a chronic and disabling such as the Schneiderian first-rank symp- trum”20. The spectrum forms related to
course. These observations could not be toms12, did not appear to have prognostic the affective disorders have so far
easily reconciled with the assumptions significance. received less attention than the non-psy-
of the original “dichotomy” model of the A second shortcoming of the classical chotic satellites of schizophrenia, but the
two disorders. nosological system is its failure to sepa- recognition of a syndrome of “masked
The argument that recovering schizo- rate consistently the two entities of schiz- depression”21 and the notion of an affec-
phrenias are not “true” cases of the dis- ophrenia and affective disorders. This tive or cyclothymic personality disorder

World Psychiatry 15:1 - February 2016 27


suggest that similar problems also exist ny in a field that had previously been Many clinicians are aware that diag-
on the affective side of the classical diag- chaotic or arbitrarily subdivided. The nostic categories are constructs, justified
nostic dichotomy of the major psychiat- least that could be said is that the noso- only by whether or not they provide a
ric disorders. At present, the borderline logical hypothesis helped to bring into useful framework for organizing clinical
forms are of limited therapeutic interest, focus issues which critics could oppose experience and making predictions about
since most cases do not require treat- or endorse, thus contributing to a diver- outcome and the effects of treatment
ment, and there is little evidence that, if sity of viewpoints that was fruitful in a decisions. However, the generic term “dis-
provided, treatment is effective. Their developing discipline such as psychiatry. order” (first introduced as a name for the
theoretical and research importance, However, a more fundamental re-thinking unit of classification in DSM-I in 1952)
however, is considerable, especially from of the nosological theory underlying the has no correspondence with either the
the point of view of the genetics of the classification of psychiatric disorders will concept of disease or the concept of syn-
major psychotic disorders. require the development of a conceptual drome in medical classifications. The
Although the range of possible aetio- framework that allows a better integration data on which the majority of the current
logical factors that may give rise to psy- of clinical, neurobiological, genetic and diagnostic rubrics in psychiatry are based
chiatric disorders is practically unlimited, behavioural data. consist primarily of reported subjective
the range of psychopathological syn- experiences and patterns of behaviour.
dromes, reflecting the brain’s responses Some of those rubrics correspond to syn-
to a variety of noxae, is limited. Since a DSM-5 AND ICD-10 dromes in the medical sense, but many
variety of aetiological factors may pro- appear to be isolated symptoms, habitual
duce the same syndrome (and conversely, Classifying in science involves form- behaviours, or personality traits. Thus, the
an aetiological factor may give rise to a ing categories or taxa for ordering natu- ambiguous status of the “disorder” cre-
spectrum of syndromes), the relationship ral objects or entities and assigning ates conceptual confusion and hinders
between aetiology and clinical syndrome names to these categories. Ideally, the the advancement of knowledge.
is an indirect one. In contrast, the rela- categories should be jointly exhaustive The fragmentation of psychopathol-
tionship between the syndrome and its to account for all possible entities, and ogy into a large number of “disorders”,
underlying pathophysiology, or specific mutually exclusive. In biology, there is of which many are merely symptoms,
brain dysfunction, is likely to be much agreement that classifications reflect facilitates the proliferation of comorbid
closer. This was recognized long ago in fundamental properties of biological diagnoses which blur the distinction
the case of psychiatric illness associated systems and constitute “natural” classi- between true comorbidity (co-occur-
with somatic and brain disorders, where fications. This is not so with psychiatric rence of aetiologically independent dis-
clinical variation is restricted to a limited classifications. First, the objects being orders) and the spurious comorbidity
number of “organic” brain syndromes, or classified in psychiatry are not “natural” that may be a feature of multifaceted
“exogenous reaction types”22. This was entities but explanatory constructs. Sec- but essentially unitary syndromes. It is,
recently reconfirmed by evidence that ondly, the taxonomic units of “disorders” therefore, not surprising that disorders,
many focal neurological diseases, neuro- in DSM-5 and ICD-10 do not form hierar- as defined in the current versions of DSM
degenerative disorders and autoimmune chies and contain no supraordinate, and ICD, have a strong tendency to co-
encephalopathies can present with symp- higher-level organizing concepts. There- occur, which suggests that “fundamental
tom pictures closely mimicking the symp- fore, DSM-5 and ICD-10 are not system- assumptions of the dominant diagnostic
tomatology of “endogenous” disorders, atic classifications in the sense in which schemata may be incorrect”6.
such as schizophrenia23. In the complex that term is applied in biology.
psychiatric disorders, where aetiology Social anthropologists have claimed
is multifactorial, future research into that an analogue to current psychiatric VALIDITY AND UTILITY
specific pathophysiological mechanisms classifications could be found in the
could be considerably facilitated by a so-called indigenous or “folk” classifi- While the reliability of psychiatrists’
better delineation of the syndromal sta- cations of animals or plants, which do diagnoses can be substantially improved
tus of diagnostic categories, providing a not consist of mutually exclusive cate- by the use of explicit diagnostic criteria,
rationale for reinstating the syndrome as gories, have no hierarchies, but may their validity remains uncertain. What is
the basic unit in future versions of psy- contain many rules applicable ad hoc24. meant by validity of a diagnostic concept
chiatric classifications. They are pragmatic and adapted to the in psychiatry is rarely discussed and few
None of the many attempts to re-shape needs of everyday life. In that sense, studies have addressed this question di-
the nosology of the major psychiatric DSM-5 and ICD-10 are not systematic rectly. Because the validity of diagnostic
disorders has been entirely satisfactory. classifications, but they are useful tools of concepts, and of their defining criteria, is
There can be no doubt that the classical communication and play an important a critical issue, it is important to clarify
nosological hypothesis was a major step role in research, clinical management what is implied by the term validity in the
forward, introducing order and parsimo- and teaching. context of psychiatric diagnosis.

28 World Psychiatry 15:1 - February 2016


The word “valid”, derived from the atric diagnosis – construct, content, con- In contrast to validity, a diagnostic ru-
Latin validus, means strong, and is current and predictive – are borrowed off bric may be said to possess utility if it
defined as “well founded and applicable; the shelf of psychometric theory in psy- provides non-trivial information about
sound and to the point; against which no chology. Few diagnostic concepts in psy- prognosis and likely treatment outcomes,
objection can fairly be brought”25. In for- chiatry meet these criteria at the level of and/or testable propositions about bio-
mal logic, validity is the characteristic of stringency normally required of psycho- logical and social correlates7. The term
an inference that must be true if all its logical tests. utility was first used in this sense by
premises are true. However, there is no Despite such ambiguities, a number Meehl36, who wrote that “the fundamen-
single agreed meaning of validity in sci- of procedures have been proposed to tal argument for the utility of formal
ence, although it is generally accepted enhance the validity of psychiatric diag- diagnosis. . . amounts to the same kind
that the concept addresses “the nature of noses in the absence of a simple mea- of thing one would say in defending for-
reality”26, and that its definition is an sure. Thus, Robins and Guze32 outlined mal diagnosis in organic medicine. One
“epistemological and philosophical prob- a program with five components: clini- holds that there is a sufficient amount of
lem, not simply a question of meas- cal description; laboratory studies; de- etiological and prognostic homogeneity
urement”27. limitation from other disorders; follow- among patients belonging to a given diag-
The attribution of validity to scientific up studies; and family studies. This nostic group so that the assignment of a
concepts and theories is in fact an unend- schema was later elaborated by Ken- patient to this group has probability impli-
ing quest: what was regarded as valid dler33, who distinguished between ante- cations which it is clinically unsound to
knowledge in the past is quickly supersed- cedent validators (familial aggregation, ignore”36.
ed by new evidence, and this in the nature premorbid personality, precipitating fac- Many, though not all, of the diagnostic
of scientific endeavour. In a thoughtful tors); concurrent validators (e.g., psycho- concepts listed in contemporary classifica-
review of the subject, Zachar28 proposed logical tests); and predictive validators tions such as DSM-5 and ICD-10 are useful
the term comparative validity, to sum- (diagnostic consistency over time, rates of to clinicians, whether or not the category
marize the progression of scientific knowl- relapse/recovery, response to treatment). in question is valid, as they provide infor-
edge, which “emphasises rationally justi- Andreasen34 has proposed additional vali- mation about the likelihood of recovery,
fied criteria we use to say that current dators, such as findings of molecular ge- relapse, deterioration, and social handicap;
theories/models are improvements on netics, neurochemistry, neuroanatomy, they guide treatment decisions, describe
past theories/models”. In a similar vein, neurophysiology and cognitive neurosci- symptom profiles, or guide research into
Aragona29 examined the “epistemological ence, suggesting that “the validation of the aetiology of the syndrome. However,
history” of the successive DSM editions, psychiatric diagnoses establishes them as there is a critical difference between validi-
from DSM-I (1952) to DSM-5 (2013), and real entities”. ty and utility. Validity is by definition an
concluded that all systems share the same Such procedural criteria implicitly as- invariate attribution to a diagnostic catego-
view of validity as a “correspondence to sume that psychiatric disorders are dis- ry: there may be uncertainty about its justi-
external reality”, with the ultimate ideal of tinct entities, ignoring the possibility that fication because of lack of relevant empir-
validation by neurobiological data. disorders might merge into one another ical information, but in principle, a catego-
In psychology, the American Psycho- with no clear boundary in between. How- ry cannot be “partly” valid7. Utility, on the
logical Association’s distinction between ever, there is increasing evidence of over- other hand, is an incremental, graded char-
content, criterion-related and construct lapping genetic predisposition to schizo- acteristic that is partly context specific.
validity30 still holds, since it provides cri- phrenia and bipolar disorder, as well as Schizophrenia may be an invaluable con-
teria for the validity of psychological tests. to seemingly unrelated disorders, such as cept to practicing psychiatrists, but of
autistic spectrum, intellectual disability questionable use to researchers exploring
Borrowing terminology from psychomet-
and, possibly, epilepsy. It is equally likely the genetic basis of psychosis. For example,
ric theory, psychiatrists have mainly been
that the same environmental factors may the DSM-5 definition of schizophrenia is
concerned with concurrent and predic-
contribute to several different syndro- useful for predicting outcome, because
tive validity, partly because of their rele-
some degree of chronicity is inbuilt. But a
vance to the issue of the validity of diag- mes. Should such findings be systemati-
broader definition, covering a heteroge-
noses. The ability to predict outcome, cally replicated, their repercussion on
neous “schizophrenia spectrum”, is more
both in the absence of treatment and in future psychiatric classifications would
useful for defining a syndrome with high
response to specific therapies, has al- be considerable. It has been proposed
heritability for genetic research.
ways been a key concern to physicians. that variations in psychiatric symptom-
In a seminal paper, Goodwin and Guze31 atology might indeed be better repre-
asserted that “diagnosis is prognosis”, sented by “an ordered matrix of symp- THE VIEW FROM PSYCHIATRIC
and that the follow-up is to the psychia- tom-cluster dimensions”35 than by a set GENETICS
trist “what the postmortem is to the of discrete categories. However, it would
physician”. The types of validity cur- be premature at this time to discard the Can psychiatric genetics inform the
rently employed in the context of psychi- current categorical entities. nosology of mental disorders? Not so

World Psychiatry 15:1 - February 2016 29


long ago, tentative findings of overlapping do not have specific underlying patho- accuracy, predictive value and capacity
associations between candidate genes physiology) to high coherence (risk genes to guide person-focused treatment and
(NRG1, DTNBP1, G72/G30, DISC1, DISC2) and polymorphisms map to a single bio- management decisions.
in DSM-IV schizophrenia and mood disor- logical pathway underpinning a single
ders raised the expectation that “over the disease process). Since psychiatric dis-
coming years, molecular genetics will cata- orders are significantly more heteroge- REFERENCES
lyse a reappraisal of psychiatric nosology” neous than other complex disorders, 1. Wittgenstein L. Philosophical remarks. Chica-
by conceptualizing “a spectrum of clinical greater heterogeneity means also great- go: University of Chicago Press, 1975.
2. Kraepelin E. Patterns of mental disorder. In:
phenotypes with susceptibility conferred er complexity, and emergent traits in Hirsch SR, Shepherd M (eds). Themes and var-
by overlapping sets of genes”37. the “mind-brain” system may be “more iations in European psychiatry. Bristol: Wright,
Such reappraisal has not happened. remote from individual gene effects 1974/1920:7-30.
3. Jablensky A, Kendell RE. Criteria for assessing a
However, recent whole-genome associa- than those seen in other tissues”. For classification in psychiatry. In: Maj M, Gaebel W,
tion studies (GWAS), involving large, these reasons, we may be ill-advised to Lopez-Ibor JJ et al (eds). Psychiatric diagnosis
consortium-pooled samples from multi- call, under the sway of important novel and classification. Chichester: Wiley, 2002:1-24.
4. Scadding JG. Essentialism and nominalism in
ple research centres, have indeed identi- findings, for a premature overhaul of medicine: logic of diagnosis in disease termi-
fied shared genetic variation of common psychiatric nosology. nology. Lancet 1996;348:594-6.
single nucleotide polymorphisms across 5. Rosch E. Cognitive reference points. Cogn Psy-
chol 1975;7:532-47.
schizophrenia, bipolar disorder, major de- 6. Sullivan PF, Kendler KS. Typology of common
pression, autism spectrum and attention- CONCLUSION: THE WAY psychiatric syndromes. An empirical study. Br
deficit/hyperactivity disorder38. The main FORWARD J Psychiatry 1998;173:312-9.
7. Kendell R, Jablensky A. Distinguishing between
contributor to these findings was the vari- the validity and utility of psychiatric diagno-
ation in calcium-channel activity genes The present diagnostic manuals, ICD ses. Am J Psychiatry 2003;160:4-12.
(CACNA1C and CACNB2), which ap- and DSM, are classifications of current 8. Fusar-Poli P, Bechdolf A, Taylor MJ et al. At risk
for schizophrenic or affective psychoses? A meta-
peared to have pleiotropic effects on a diagnostic concepts, and not of “natural analysis of DSM/ICD diagnostic outcomes in
range of psychopathology. These findings kinds”, such as people or diseases. There individuals at high clinical risk. Schizophr Bull
reinforced the hope that, similarly to med- is little evidence that most recognized 2013;39:923-32.
9. World Health Organization. Schizophrenia: an
ical disciplines such as oncology and car- mental disorders, including the psycho- international follow-up study. Chichester: Wiley,
diology, psychiatry could move “beyond ses, are separated by natural boundaries. 1979.
descriptive syndromes. . . towards a nosol- There is a growing understanding, sup- 10. Jablensky A, Sartorius N, Ernberg G et al.
Schizophrenia: manifestations, incidence and
ogy informed by disease cause”39. ported by recent advances in genetic and course in different cultures. A World Health
Further support for a trans-diagnostic neurobiological research, that many of Organization ten-country study. Psychol Med
commonality of genomic variants under- the present diagnostic categories are end- 1992, Monograph Supplement 20.
11. Hopper K, Harrison G, Janca A et al (eds).
lying susceptibility risks was provided by point phenotypes for heterogeneous gene Recovery from schizophrenia: an international
the largest to date GWAS of schizophre- networks, pathophysiological pathways, perspective. New York: Oxford University Press,
nia40, which revealed multiple common and environmental modifiers. Probably 2007.
12. Parnas J. DSM-IV and the founding prototype
polymorphisms converging upon individ- we shall see in the future increased exper- of schizophrenia: are we regressing to a pre-
ual genes and definable molecular path- imentation with research-based classifi- Kraepelinian nosology? In: Kendler KS, Parnas
ways in the brain, involving glutamatergic cations and diagnostic tools, focusing on J (eds). Philosophical issues in psychiatry II:
Nosology. Oxford: Oxford University Press,
synaptic and calcium channel functions, improving and refining the clinical utility 2012:237-59.
as well as a highly significant contribution of both categorical and dimensional mod- 13. Kasanin J. The acute schizoaffective psychosis.
of the immune system. Importantly, there els of psychopathology, and seeking a Am J Psychiatry 1933;90:97-126.
14. Leonhard K. Classification of endogenous psy-
was evidence of overlap between rare consilience between the two, leading to choses and their differentiated etiology. Wien:
copy number variations associated with concordance. Springer, 1995.
schizophrenia and rare de novo mutations Paraphrasing Jaspers’ dictum42, valid- 15. Bleuler E. Lehrbuch der Psychiatrie. Berlin:
Springer, 1920.
observed in intellectual disability and ity is an “idea in Kant’s sense of the 16. Zilboorg G. Ambulatory schizophrenia. Psychi-
autism spectrum disorders. However, in- word. . . an objective which one cannot atry 1941;4:149-55.
stead of an imminent reappraisal of psy- reach since it is unending, but all the 17. Hoch PH, Polatin P. Pseudoneurotic forms of
schizophrenia. Psychiatr Q 1949;23:248-76.
chiatric classification, these novel find- same it indicates the path for fruitful 18. Kety S. Schizophrenic illness in the families of
ings add to the tremendous complexity of research and supplies a valid point of schizophrenic adoptees: findings from the
the genotype-phenotype problem in com- orientation for particular empirical in- Danish national sample. Schizophr Bull 1988;
14:217-22.
mon mental disorders. vestigations”. This means that our pri- 19. American Psychiatric Association. Diagnostic
In a recent review, Kendler41 outlined mary concern should be the progressive and statistical manual of mental disorders, 5th
“possible scenarios” of biological coher- refinement of the utility of the diagnos- ed. Arlington: American Psychiatric Publish-
ing, 2013.
ence in the genomic findings, ranging tic concepts and tools, towards the en- 20. Kendler KS, Gruenberg AM, Kinney DK. Inde-
from low coherence (clinical syndromes hancement of their phenomenological pendent diagnoses of adoptees and relatives

30 World Psychiatry 15:1 - February 2016


as defined by DSM-III in the provincial and psychiatry II: Nosology. Oxford: Oxford Univer- 36. Meehl PE. Psychodiagnosis. In: Selected papers.
national samples of the Danish Adoption sity Press, 2012:21-34. Minneapolis: University of Minnesota Press,
Study of Schizophrenia. Arch Gen Psychiatry 29. Aragona M. Rethinking received views on the 1959.
1994;51:456-68. history of psychiatric nosology: minor shifts, 37. Owen MJ, Craddock N, Jablensky A. The genet-
21. Kielholz P. The concept of masked depression. major continuities. In: Zachar P, Stoyanov DS, ic deconstruction of psychosis. Schizophr Bull
Encephale 1979;5(Suppl. 5):459-62. Aragona M et al (eds). Alternative perspectives 2007;33:905-11.
22. Bonhoeffer K. Die Psychosen im Befolge von on psychiatric validation. Oxford: Oxford Uni- 38. Cross-Disorder Group of the Psychiatric Geno-
akuten Infektionen, Allgemeinerkrankungen versity Press, 2015:27-46. mics Consortium, Lee SH, Ripke S et al. Genet-
un inneren Erkrankungen. In: Aschaffenburg G 30. American Psychological Association. Stand- ic relationship between five psychiatric dis-
(ed). Handbuch der Psychiatrie. Leipzig: Deu- ards for educational and psychological tests orders estimated from genome-wide SNPs.
ticke, 1912:1-110. and manuals. Washington: American Psycho- Nat Genet 2013;9:984-94.
23. Cardinal RN, Bullmore ET. The diagnosis of logical Association, 1966. 39. Cross-Disorder Group of the Psychiatric Geno-
psychosis. Cambridge: Cambridge University 31. Goodwin DW, Guze SB. Preface. In: Goodwin mics Consortium. Identification of risk loci with
Press, 2011:10-117. DW, Guze SB (eds). Psychiatric diagnosis. New shared effects on five major psychiatric disor-
24. Blashfield RK. Structural approaches to classifi- York: Oxford University Press, 1974:ix-xii. ders: a genome-wide analysis. Lancet 2013;381:
cation. In: Millon T, Klerman GL (eds). Contem- 32. Robins E, Guze SB. Establishment of diagnos- 1371-9.
porary directions in psychopathology: towards tic validity in psychiatric illness: its application 40. Schizophrenia Working Group of the Psychiat-
the DSM-IV. New York: Guilford, 1985:363-80. to schizophrenia. Am J Psychiatry 1970;126: ric Genomic Consortium. Biological insights
25. The Shorter Oxford English Dictionary, 3rd ed. 983-7. from 108 schizophrenia-associated genetic loci.
Oxford: Clarendon Press, 1978. 33. Kendler KS. The nosologic validity of paranoia Nature 2014;511:421-7.
26. Kerlinger FN. Foundations of behavioural (simple delusional disorder): a review. Arch 41. Kendler KS. What psychiatric genetics has
research, 2nd ed. London: Holt, Reinhart & Gen Psychiatry 1980;37:699-706. taught us about the nature of psychiatric ill-
Winston, 1973. 34. Andreasen NC. The validation of psychiatric ness and what is left to learn. Mol Psychiatry
27. Galtung J. Theory and methods of social diagnosis: new models and approaches. Am J 2013;18:1058-66.
research. Oslo: Universitetsforlaget, 1969. Psychiatry 1995;152:161-2. 42. Jaspers K. General psychopathology. Chicago:
28. Zachar P. Progress and calibration of scientific 35. Widiger TA, Clark LA. Towards DSM-V and the University of Chicago Press, 1963.
constructs: the role of comparative validity. In: classification of psychopathology. Psychol Bull
Kendler KS, Parnas J. Philosophical issues in 2000;126:946-63.
DOI:10.1002/wps.20284

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