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The Cracked Prism: the diagnosis of schizophrenia

15 Gen 26

Between dissolution into the psychosis spectrum and clinical persistence: a review of the literature (2010–2025)

Abstract

Background. Between 2010 and 2025 the very concept of schizophrenia was challenged at its root: an authoritative strand of the literature proposed abandoning it in favour of a “psychosis spectrum”, while another defends its clinical utility while acknowledging its limits.

Objectives. To review critically the nosological evolution, the neurobiological, clinical and therapeutic evidence, and the debate on the tenability of the construct, holding the opposing positions together.

Methods. Critical survey of the international and Italian literature, anchored to verified primary sources.

Results. DSM-5 and ICD-11 abolished the historical subtypes and introduced a dimensional reading; genetics and neuroimaging document continuity and overlap with other disorders rather than sharp boundaries, yet offer no individual biomarker. The thesis of abandoning the concept (psychosis spectrum) and that of its continued utility both remain on the field.

Conclusions. Schizophrenia has limited validity but real clinical utility: it is an imperfect, provisional prism, not the essence of the patient. The task is neither to bury the term nor to defend it dogmatically, but to handle it with caution, restoring the person to the centre.

Keywords: schizophrenia, psychosis spectrum, DSM-5, ICD-11, dimensional nosology, transdiagnostic approach, phenomenology, stigma.

  1. Introduction: a concept on trial

In 2016, in the pages of the British Medical Journal, one of Europe’s most influential psychiatrists, Jim van Os, advanced a thesis that only a few years earlier would have sounded heretical: that diagnostic systems ought to abandon the concept of schizophrenia altogether, a description by now misleading and of little clinical use (van Os, 2016). It was not an isolated provocation. Over the following decade the validity of psychiatry’s most emblematic construct was put on trial from several directions, while the diagnostic manuals rewrote it and the neurosciences eroded its boundaries.

It is worth dispelling at once a misconception that circulates in the popular literature: it is not true that the new manuals “reduced” schizophrenia by redistributing it into more specific diagnoses, nor that the diagnosis simply “disappeared”. What happened is subtler and more profound: the concept itself — its unity, its boundaries, its claim to name a distinct disease — was interrogated. The question this review takes seriously is therefore twofold and honest: is schizophrenia dissolving into a continuous psychosis spectrum, and — a separate matter — would it be right to let it go? To the first, the evidence answers with growing clarity; to the second, as we shall see, the field remains divided, and rightly so.

  1. What changed in the manuals

The nosological revision of the period has a precise profile, worth reporting exactly. With DSM-5, in 2013, the American Psychiatric Association abolished the historical subtypes of schizophrenia — paranoid, disorganized, catatonic, undifferentiated, residual — judged to lack stability over time and prognostic value. It also reformulated the core symptomatic criterion, requiring at least two symptoms, of which at least one must be delusions, hallucinations or disorganized speech, and it removed the special weight that earlier editions had granted to bizarre delusions and to Schneider’s first-rank symptoms, whose diagnostic specificity had not withstood empirical scrutiny. To this it added a dimensional rating of symptom severity (Tandon et al., 2013).

ICD-11, adopted by the World Health Organization in 2019 and in force since 2022, followed a convergent path: it too eliminated the subtypes and introduced a series of symptom specifiers — positive, negative, depressive, manic, psychomotor, cognitive — to be rated dimensionally along the course of illness. In both systems the direction is the same: from the rigid category and its presumed subtypes to the graded description of symptom dimensions. It is the first sign, internal to the manuals themselves, of a shift from categorical to dimensional thinking (Jablensky, 2014).

  1. The strong thesis: the “slow death” of the concept

The most radical and closely argued formulation of the critique is the one advanced by Sinan Guloksuz and Jim van Os in an essay whose title is deliberately dramatic, “The slow death of the concept of schizophrenia and the painful birth of the psychosis spectrum” (Guloksuz & van Os, 2018). Its central argument is as simple as it is cutting: schizophrenia, as defined, captures only the poorest-outcome fraction — estimated at around thirty per cent — of a far broader, multidimensional psychotic syndrome; yet, paradoxically, it has become the dominant prism through which everything “psychotic” is observed, and it is studied at least ten times more than the remaining seventy per cent of the spectrum. Hence the proposal: to remove schizophrenia from the diagnostic nomenclature and replace it with a single, broad category of “psychosis spectrum disorder”, assessed by dimensions and by stage, on the model of what has already occurred for autism.

This position did not arise in a vacuum: it is bound up with the great programme of dimensional and transdiagnostic reclassification promoted, in the same years, by the United States mental-health institutes with the Research Domain Criteria, which propose anchoring research to functional domains — from cognition to valence systems — rather than to traditional diagnostic categories (Insel et al., 2010; Cuthbert & Insel, 2013). The underlying idea is that the categories inherited from Kraepelin and Bleuler are historical conventions, not natural kinds, and that biological research was long hindered precisely by its search for sharp correlates of blurred constructs.

  1. The counterpoint: alive, but not well

It would be dishonest to present the abandonment of the concept as the discipline’s consensus: it is not. In the very issue of the journal that hosted the proposal of Guloksuz and van Os, Anthony Zoghbi and Jeffrey Lieberman replied with a piece whose title — “Alive but not well” — sums up the opposing view: schizophrenia has limited validity, but a clinical utility that justifies its survival (Zoghbi & Lieberman, 2018). The argument is pragmatic and not to be dismissed: a category, however imperfect, orients the choice of treatment, communication among clinicians, the estimation of prognosis and the organization of services; dissolving it into an undifferentiated spectrum risks diluting severity, making it harder to identify those with the highest care needs, and substituting for an imperfect label an abstraction even less tractable at the patient’s bedside.

The tension, then, is not between progress and conservation, but between two partial truths. That the boundaries of schizophrenia are blurred and in part arbitrary is hard to contest; that one must therefore renounce naming it is quite another conclusion, one that carries concrete clinical costs. It is the classic case in which the scientific validity of a construct and its practical utility do not coincide, and in which the wise course is not to sacrifice one to the other but to keep both in view.

  1. The neurobiology: convergence, overlap, no sharp boundary

It is instructive to note that the neuroscience of the period, far from settling the question in favour of the categories, has if anything supplied ammunition to the dimensional reading. On the genetic front, the Psychiatric Genomics Consortium first identified one hundred and eight loci associated with schizophrenia (Ripke et al., 2014), then — with the largest sample — two hundred and eighty-seven loci, converging on the biology of the synapse (Trubetskoy et al., 2022). But the datum that matters most for our question is another: much of this genetic vulnerability is shared with bipolar disorder, with depression and with autism. Genetics, that is, does not isolate schizophrenia as a discrete entity; it reveals its continuity with the rest of psychopathology.

On the neuroimaging front, the largest meta-analysis conducted by the ENIGMA consortium documented, in patients, widespread cortical thinning — most marked in frontal and temporal regions — relative to controls (van Erp et al., 2018). These are robust findings, but they must be read with three cautions that the literature itself imposes: they are group-level, not individual; they lack the specificity of a diagnostic test; and they are in part confounded by the effect of antipsychotic medication, by duration of illness and by severity. The balance is clear: after decades of research, there exists no biomarker — genetic, structural or functional — capable of diagnosing schizophrenia in the individual patient. Diagnosis remains clinical; and what biology has found is a landscape of continuity and overlap, not of boundaries.

  1. The clinic: phenomenology and dimensions

If biology blurs the boundaries, the clinic offers a candidate for what, in schizophrenia, might be specific — and it offers it not from the side of enumerable symptoms but from that of experience. The phenomenological tradition, reread and revived in the period, placed at its centre not the inventory of positive symptoms but a deeper alteration: the modification of ipseity, the crack in the basal sense of self and of one’s own presence in the world, which precedes and structures the manifest symptoms (Parnas & Sass, 2010). It is a clinically fruitful hypothesis, because it proposes an experiential core that purely behavioural approaches miss, and because it might guide early differential diagnosis better than checklists do.

This attention to subjective experience — developed in the Italian setting above all by Giovanni Stanghellini — is not in contradiction with the dimensional turn but completes it: while dimensional models measure how far a patient stands from a threshold, phenomenology asks how he lives his condition (Stanghellini, 2016). The two perspectives, that of measurement and that of meaning, do not exclude one another; their integration is perhaps the most promising route towards a nosology that betrays neither rigour nor the person.

  1. Treatment, prognosis, stigma

On the therapeutic plane, antipsychotics remain the cornerstone of treatment, with differences in efficacy and, above all, in tolerability among the compounds that comparative meta-analyses have progressively clarified (Leucht et al., 2013); cognitive-behavioural therapy for psychosis has established itself as a useful adjunct for persistent positive symptoms and for insight (Wykes et al., 2011), and early-intervention programmes have shown that they improve prognosis when they reach patients in the initial phases (McGorry et al., 2014; Fusar-Poli et al., 2017). In parallel, the recovery paradigm has shifted the relevant outcome from symptomatic remission alone to quality of life, relationships and autonomy (Slade et al., 2014).

One last thread deserves to be untangled, for it runs beneath the whole debate: stigma. Part of the impulse to abandon the term “schizophrenia” arises from the stigmatizing weight it has accumulated, and from the fact that patients and clinicians associate it almost automatically with a hopeless prognosis (Corrigan et al., 2014). The argument is serious, but must be handled honestly: the experience of the countries that have renamed the disorder — Japan and South Korea first among them — suggests that a change of name can aid clinical communication, but does not by itself remove the prejudice, which is rooted in the social fear of madness more than in a word. To rename is not to cure; and to entrust to nosology a task that belongs to culture is an illusion to be guarded against.

  1. The Italian frame

Italian psychiatry has brought to this debate a contribution consistent with its own tradition, which has always been wary both of biological reductionism and of classificatory abstraction. Mario Maj has insisted, in several venues, on the need to flank categorical diagnosis with a “clinical characterization” of the individual patient — his history, his dimensional symptoms, his functioning, his comorbidities, his response to treatment — as an antidote to the informational poverty of the label. On the side of services and training, the Naples group led by Andrea Fiorillo and Gaia Sampogna has analysed the process of revising the diagnostic systems and its repercussions for practice and for the education of clinicians (Fiorillo et al., 2019; Sampogna et al., 2023), while Giovanni de Girolamo has drawn attention to the organizational and training knots that a more complex nosology entails for community services.

It is a position of balance worth valuing: neither the hasty burial of the concept nor its dogmatic defence, but the attempt to restore clinical and biographical depth to the diagnosis, bringing back to the centre the person who receives it. In this, the Italian tradition — from Basaglia onward wary of any label that replaces the human being with the disease — has something of its own to say to the international debate.

  1. Limitations and conclusions

This is a selective critical survey, not a systematic review: it has chosen the nodes that best illuminate the central question — the tenability of the concept of schizophrenia — leaving in shadow extensive territories, from the fine detail of pharmacology to the applications of artificial intelligence to the prediction of psychotic transition, each deserving separate treatment. It shares their limits too: the difficulty of drawing firm conclusions from a field in rapid motion and traversed by choices of value, not only of fact.

The conclusion, however, can be clear. The concept of schizophrenia emerges from the fifteen-year period with its scientific validity weakened and its clinical utility intact: the neurosciences have shown its porous boundaries and its continuity with the rest of psychopathology, the manuals have made it more dimensional, an authoritative part of the discipline has called for its abandonment; and yet it remains, in practice, a tool that orients care and makes the most severely ill visible. Wisdom lies neither in burying the term by decree nor in defending it as an essence: it lies in handling it for what it is — an imperfect, provisional, cracked prism, useful so long as one knows its limits. What no nosological reform can replace is the clinical gaze able to see, beyond the diagnosis, the suffering person: for schizophrenia is at most a name given to a trajectory, never the truth of the one who walks it.

References

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