Endophenotypes in schizophrenia: A selective review
Open accessAbstract
Background Given the wealth of data in the literature on schizophrenia endophenotypes, it is useful to have one source to reference their frequency data. We reviewed the literature on disease-liability associated variants in structural and functional magnetic resonance images (MRI), sensory processing measures, neuromotor abilities, neuropsychological measures, and physical characteristics in schizophrenia patients (SCZ), their first-degree relatives (REL), and healthy controls (HC). The purpose of this review was to provide a summary of the existing data on the most extensively published endophenotypes for schizophrenia.Methods We searched PubMed and MedLine for all studies on schizophrenia endophenotypes comparing SCZ to HC and/or REL to HC groups. Percent abnormal values, generally defined as >2 SD from the mean (in the direction of abnormality) and/or associated effect sizes (Cohen's d) were calculated for each study.Results Combined, the articles reported an average 39.4% (SD=20.7%; range=2.2-100%) of abnormal values in SCZ, 28.1% (SD=16.6%; range=1.6-67.0%) abnormal values in REL, and 10.2% (SD=6.7%; range=0.0-34.6%) in HC groups.Conclusions These findings are reviewed in the context of emerging hypotheses on schizophrenia endophenotypes, as well as a discussion of clustering trends among the various intermediate phenotypes. In addition, programs for future research are discussed, as instantiated in a few recent large-scale studies on multiple endophenotypes across patients, relatives, and healthy controls.
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Neuromotor, neuropsychological, and physiological endophenotypes appear in attenuated form in relatives of people with psychotic disorders, suggesting similar latent biological mechanisms across the psychosis spectrum.
“Finally, a range of neuromotor, neuropsychological, and physiological endophenotypes appear in attenuated form in relatives of individuals with psychotic disorders (Allen et al., 2009), suggesting that latent biological mechanisms are similar throughout the psychosis spectrum.”
From Narrative identity in the psychosis spectrum: A systematic review and developmental model (2021) · cites this paper as Allen et al., 2009
The Introduction says endophenotypes occur in some unaffected relatives, and the review covers neuromotor, neuropsychological, and physiological abnormalities. But the review examines relatives of people with schizophrenia; it does not establish the cited finding for relatives of people with psychotic disorders across the spectrum. The sentence’s final suggestion about shared mechanisms is the citing authors’ inference, not the part directly attributed to this source. (LLM, conf=0.84)
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Psychophysiological endophenotypes to characterize mechanisms of known schizophrenia genetic loci
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The Genetic Architecture of Neurodevelopmental Disorders
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- Authors
- Allen, A. J., Griss, M. E., Folley, B. S., Hawkins, K. A., & Pearlson, G. D.
- Affiliations
- Hartford Hospital (US)
- Yale University (US)
- Corresponding author
- Allen, Allyssa J.
- Venue
- Schizophrenia Research
- Publisher
- Elsevier BV
- Published
- 2009-04
- Volume
- 109
- Issue
- 1-3
- Pages
- 24-37
- ISSN
- 0920-9964 (ISSN-L)
- PMC
- PMC2665704
- OpenAlex
- W2102684787
- Cited by
- 210
- References
- 274
- Citations by year
- 2026: 5 · 2024: 3 · 2023: 6 · 2022: 2 · 2021: 9 · 2020: 11 · 2019: 10 · 2018: 6 · 2017: 16 · 2016: 15 · 2015: 21 · 2014: 20 · 2013: 21 · 2012: 29
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Schizophrenia Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Korea Electrotechnology Research Institute
- National Institute of Mental Health (MH074797, R01MH074797, R37MH043775, R01MH077945)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Social Sciences › Arts and Humanities › Philosophy › Mental Health and Psychiatry
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- schizophrenia, endophenotypes
- MeSH terms
- Cognition Disorders, Family, Humans, Phenotype, Schizophrenia, Schizophrenic Psychology, Statistics as Topic, Biomarkers, Cluster Analysis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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