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Record W2893177211 · doi:10.1038/s41398-018-0229-0

Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis

2018· article· en· W2893177211 on OpenAlexafffund
Eva Velthorst, Seán Froudist‐Walsh, Eli A. Stahl, Douglas M. Ruderfer, Ilyan Ivanov, Joseph D. Buxbaum, Anders D. Børglum, Jakob Grove, Manuel Mattheisen, Thomas Werge, Preben Bo Mortensen, Marianne Giørtz Pedersen, Carsten Bøcker Pedersen, Ole Mors, Merete Nordentoft, David M. Hougaard, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Christine Søholm Hansen, Mark J. Daly, Benjamin M. Neale, Elise Robinson, Felecia Cerrato, Ashley Dumont, Jacqueline I. Goldstein, Christine Stevens, Raymond K. Walters, Stephan Ripke, Joanna Martin, Tobias Banaschewski, Arun L.W. Bokde, Uli Bromberg Dipl-Psych, Christian Büchel, Erin Burke Quinlan, Sylvane Desrivières, Herta Flor, Vincent Frouin, Hugh Garavan, Penny Gowland, Andreas Heinz, Bernd Ittermann, Marie‐Laure Paillère Martinot, Éric Artiges, Frauke Nees, Dimitri Papadopoulos Orfanos, Tomáš Paus, Luise Poustka, Sarah Hohmann, Juliane H. Fröhner, Michael N. Smolka, Henrik Walter, Robert Whelan, Günter Schumann, Abraham Reichenberg

Bibliographic record

VenueTranslational Psychiatry · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsBaycrest HospitalUniversity of Toronto
FundersNational Institute of Biomedical Imaging and BioengineeringNational Institutes of HealthVetenskapsrådetNational Institute of Mental HealthSvenska Forskningsrådet FormasFondation pour la Recherche MédicaleLundbeckfondenEU Joint Programme – Neurodegenerative Disease ResearchInstitut National de la Santé et de la Recherche MédicaleNederlandse Organisatie voor Wetenschappelijk OnderzoekAgence Nationale de la RechercheMedical Research CouncilUniversität HeidelbergUniversity of TorontoDeutsche ForschungsgemeinschaftUniversity College DublinMission Interministérielle de Lutte Contre les Drogues et les Conduites AddictivesSouth London and Maudsley NHS Foundation TrustUniversität HamburgScience Foundation IrelandKing's College LondonFondation de FranceTechnische Universität DresdenBundesministerium für Bildung und ForschungNational Institute for Health and Care Research
KeywordsAutismPsychosisSchizophrenia (object-oriented programming)PsychologyAutism spectrum disorderPolygenic risk scorePopulationPsychiatryClinical psychologyStructural equation modelingDevelopmental psychologyMedicineSingle-nucleotide polymorphismGeneticsGenotype

Abstract

fetched live from OpenAlex

While psychotic experiences (PEs) are assumed to represent psychosis liability, general population studies have not been able to establish significant associations between polygenic risk scores (PRS) and PEs. Previous work suggests that PEs may only represent significant risk when accompanied by social impairment. Leveraging data from the large longitudinal IMAGEN cohort, including 2096 14-year old adolescents that were followed-up to age 18, we tested whether the association between polygenic risk and PEs is mediated by (increasing) impairments in social functioning and social cognitive processes. Using structural equation modeling (SEM) for the subset of participants (n = 643) with complete baseline and follow-up data, we examined pathways to PEs. We found that high polygenic risk for schizophrenia (p = 0.014), reduced brain activity to emotional stimuli (p = 0.009) and social impairments in late adolescence (p < 0.001; controlling for functioning in early adolescence) each independently contributed to the severity of PEs at age 18. The pathway between polygenic risk for autism spectrum disorder and PEs was mediated by social impairments in late adolescence (indirect pathway; p = 0.025). These findings point to multiple direct and indirect pathways to PEs, suggesting that different processes are in play, depending on genetic loading, and environment. Our results suggest that treatments targeting prevention of social impairment may be particularly promising for individuals at genetic risk for autism in order to minimize risk for psychosis.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.152
Threshold uncertainty score0.478

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.013
GPT teacher head0.265
Teacher spread0.252 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations24
Published2018
Admission routes2
Has abstractyes

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