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Introduction: the extended psychosis phenotype—relationship with schizophrenia and with ultrahigh risk status for psychosis

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van Os, J., Linscott, R. J.·2012·Schizophrenia Bulletin

Abstract

In clinical practice, psychotic disorders naturally come as diagnosable “things,” categories, the carriers of which form a diagnostic boundary below which reside the healthy noncarriers who do not display the mental phenomena observed in patients. In research, however, the focus is on scientific exploration of the distribution of experiences at all levels of severity in populations and its genetic and nongenetic causes. Population research has shown high rates of psychotic experiences in people who are not readily diagnosable according to ICD/DSM/RDC criteria—suggesting an “extended psychosis phenotype,” which shares demographic, etiological, familial, and psychopathological factors with clinical psychotic disorder. In fact, affective dysregulation, psychotic experiences, motivational impairments, and cognitive alterations appear to be distributed and coexpressed to a degree in nonill individuals and have been shown to index risk for later onset of disorder, particularly if they tend to persist over time.1 (also, R. J. L & J. v. O., unpublished data, 2011) In other words, the extended psychosis phenotype can be considered as the behavioral expression of vulnerability for psychotic disorder in populations. However, research on psychotic experiences in the general population is in its early stages. A systematic review of 285 rates of prevalence or incidence of psychotic experiences showed that method, cohort, and design variables accounted for more variance than meaningful variables (exposure variables). The biggest contributor among the method variables (self report) accounted for 2.7 times the amount of variance explained by the biggest exposure variable (drug use). Thus, rates were found to be higher in studies using smaller n, convenience sampling, and self-report assessment.2 Furthermore, systematic review of the literature shows that there is evidence not only for a psychometric “continuum” (in the sense of an extended psychosis phenotype blending gradually into clinical syndromes)3 but also for an underlying latent categorical structure of the population (in the sense that regardless of the presence of a psychometric continuum, the population may still be composed of 2 different types of people).2 In addition, research suggests that onset of psychotic disorder can be understood in part as different types of subclinical experiences causally impacting on each other over time, for example negative symptoms predicting psychotic experiences,4 affective dysregulation impacting on onset of psychotic symptoms,5,6 or hallucinations giving rise to delusions,7,8 suggesting a network model of onset of psychotic disorder. These reciprocally influencing symptoms, in turn, can be traced to “microphenotypes” of subtle responses of aberrant salience or negative affect to small variations in the environment that possibly constitute the core vulnerability in the way cerebral processing gives rise to subtle alterations in the representation of the social environment in the form of, for example, paranoia9,10 or hallucinatory experiences (fig. 1).11 Onset of psychotic disorder. The core vulnerability underlying psychosis is portrayed as subtle alterations in the way individuals process environmental stimuli from moment to moment in the flow of daily life, giving rise to altered representations of the environment in the form of, for example, fluctuating paranoid feelings, negative affective states, or reduced incentive for environmental interactions (microphenotype). In some individuals, these states tend to persist from moment to moment, under the influence of interacting genetic and environmental factors (G × E), at some stage giving rise to noticeable psychotic experiences, for example in the form of habitual paranoid ideation (extended phenotype). Persistence of these psychotic experiences over months or even years, under the influences of interacting genetic and environmental factors (G ×E), and depending on the degree of copresence of affective dysregulation, motivational impairment, and cognitive alterations, increases the risk for onset of psychotic disorder (illness macrophenotype) with a high likelihood of disease expression over a period of many years. From the earliest reports on psychotic experiences in general populations, a high level of coexpression of anxiety and depression was noted.12,13 In fact, research has demonstrated high rates of psychotic experiences in individuals with nonpsychotic illness,14,15 which may have important clinical consequences for the outcome of these disorders,16 reinforcing the view that psychopathology is represented by a network of overlapping and reciprocally impacting dimensional liabilities. Thus, a diagnosis of schizophrenia is highly predictive of virtually all other Axis I and Axis II psychiatric disorders in the same person,17 and this relative nonspecificity extends to the level of familial aggregation. For example, the nonaffected siblings of patients with psychotic diso

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  • ESM is ideally suited to examine interactions at the micro-level expression of psychopathology and to examine directionality of momentary processes.

    “ESM is ideally suited to examine these interactions at the most fundamental “micro-level” expression of psychopathology [41] and to examine directionality of momentary processes and the smallest building blocks that may eventually form part of a mental illness.”

    From Putting a Hold on the Downward Spiral of Paranoia in the Social World: A Randomized Controlled Trial of Mindfulness-Based Cognitive Therapy in Individuals with a History of Depression (2013) · cites this paper as [41]

    The section on the extended psychosis phenotype describes microphenotypes responding to small environmental changes and symptoms influencing one another over time. It does not say that ESM is suited to examining those interactions or establishing the directionality of momentary processes. (LLM, conf=0.78)

    Experimental — accuracy not yet measured
  • Psychosis constitutes a phenotype that can be examined across a temporal and phenomenological continuum of increasing severity and persistence of symptoms between healthy and clinical populations.

    “These findings have led to the suggestion that psychosis constitutes a phenotype that can be examined across a temporal and phenomenological continuum of increasing severity and persistence of symptoms between healthy and clinical populations (van Os and Linscott, 2012).”

    From Psychotic-Like Experiences at the Healthy End of the Psychosis Continuum (2017) · cites this paper as van Os and Linscott, 2012

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Research works printed but not linked: 2

  1. van Os J, Kenis G, Rutten BP. The environment and schizo- phrenia. Nature. 2010;468:203-212.
  2. Fusar-Poli P, Bonoldi I, Yung AR, et al. Predicting psychosis: a meta-analysis of evidence. Arch Gen Psychiatry. 2011; In press.

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Authors
van Os, J., & Linscott, R. J.
Affiliations
Maastricht University Medical Centre (NL)
Venue
Schizophrenia Bulletin
Published
2012-02-21
Volume
38
Issue
2
Pages
227-230
ISSN
  • 0586-7614 (ISSN-L)
  • 1745-1701
OpenAlex
W2103003697
Cited by
213
References
29
Citations by year
2026: 7 · 2025: 10 · 2024: 3 · 2023: 18 · 2022: 16 · 2021: 21 · 2020: 23 · 2019: 26 · 2018: 21 · 2017: 15 · 2016: 17 · 2015: 5 · 2014: 9 · 2013: 16 · 2012: 5
FWCI
7.97
Type
journal article
Language
en
Open access
Locations
  • Schizophrenia Bulletin (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Research Publications (Maastricht University) (submittedVersion, other-oa)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
  • Social Sciences › Arts and Humanities › Philosophy › Mental Health and Psychiatry
  • Social Sciences › Psychology › Clinical Psychology › Psychopathy, Forensic Psychiatry, Sexual Offending
Keywords
psychotic experiences
MeSH terms
Anxiety Disorders, Depressive Disorder, Humans, Phenotype, Psychotic Disorders, Risk Factors, Schizophrenia

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