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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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“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
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Stratta, P., Daneluzzo, E., Prosperini, P., Bustini, M., Mattei, P., & Rossi, A. (1997) · Schizophrenia Research · doi:10.1016/s0920-9964(97)00090-x · Cited by 60
Flagged first, then by citations
2 of the 274 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- Altman, 1990, Neuropsychological test deficits are associated with smooth pursuit eye movement impairment in affective disorders but not in schizophrenia, International Journal of Clinical Neuropsychology, 12, 49
- Lawrie, 1999, Magnetic resonance imaging of brain in people at high risk of developing schizophrenia [comment], Lancet, 353, 30, 10.1016/S0140-6736(98)06244-8 · DOI
Cited by
Sorted by citations
van Os, J., & Kapur, S. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60995-8 · Cited by 1,971
Schizophrenia, “just the facts” 4. Clinical features and conceptualization
Tandon, R., Nasrallah, H. A., & Keshavan, M. S. (2009) · Schizophrenia Research · doi:10.1016/j.schres.2009.03.005 · Cited by 1,101
Kapur, S., Phillips, A. G., & Insel, T. R. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.105 · Cited by 980
Systematic meta-review and quality assessment of the structural brain alterations in schizophrenia
Shepherd, A. M., Laurens, K. R., Matheson, S. L., Carr, V. J., & Green, M. J. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2011.12.015 · Cited by 412
Meda, S. A., Gill, A., Stevens, M. C. G., Lorenzoni, R. P., Glahn, D. C., Calhoun, V. D., Sweeney, J. A., Tamminga, C. A., Keshavan, M. S., Thaker, G. K., et al. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2012.01.025 · Cited by 273
Self-citation
Metadata
- 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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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