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Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

2014· review· en· W2156691676 on OpenAlexafffund
Maude Schneider, Martin Debbané, Anne S. Bassett, Eva W.C. Chow, Wai Lun Alan Fung, Marianne B. M. van den Bree, Michael J. Owen, Kieran C. Murphy, Maria Niarchou, Wendy R. Kates, Kevin M. Antshel, Wanda Fremont, Donna M. McDonald‐McGinn, Raquel E. Gur, Elaine H. Zackai, Jacob Vorstman, Sasja N. Duijff, Petra Klaassen, Ann Swillen, Doron Gothelf, Tamar Green, Abraham Weizman, Thérèse van Amelsvoort, L. J. M. Evers, Erik Boot, Vandana Shashi, Stephen R. Hooper, Carrie E. Bearden, Maria Jalbrzikowski, Marco Armando, Stefano Vicari, Declan Murphy, Opal Ousley, Linda Campbell, Tony J. Simon, Stéphan Eliez

Bibliographic record

VenueAmerican Journal of Psychiatry · 2014
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCongenital heart defects research
Canadian institutionsCentre for Addiction and Mental Health
FundersSchool of Medicine, University of North Carolina at Chapel HillNational Institute of Child Health and Human DevelopmentNational Institute of Mental HealthNational Health and Medical Research CouncilMedical Research CouncilDepartment of Psychiatry, University of TorontoPerelman School of Medicine, University of PennsylvaniaUniversity of California, DavisSchool of Medicine, Emory UniversitySchool of Medicine, Stanford UniversityJane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los AngelesTel Aviv UniversityUniversiteit MaastrichtUniversity of TorontoSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungUniversité de GenèveChildren's Hospital of PhiladelphiaKing's College LondonSimons FoundationCardiff UniversityBrain and Behavior Research FoundationOspedale Pediatrico Bambino GesùHunter Medical Research InstituteEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Alliance for Research on Schizophrenia and DepressionBioMarin PharmaceuticalMarch of Dimes FoundationSyracuse UniversityRoyal College of Surgeons in IrelandEmory UniversityWellcome TrustUniversity of PennsylvaniaNational Science FoundationCanadian Institutes of Health ResearchUniversity of California, Los Angeles
KeywordsPsychopathologyAnxietyBiological psychopathologyMood disordersPsychiatrySchizophrenia (object-oriented programming)PsychologyPsychosisMoodClinical psychologyAttention deficit hyperactivity disorderAutism

Abstract

fetched live from OpenAlex

OBJECTIVE: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. METHOD: The 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. RESULTS: Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. CONCLUSIONS: To the authors’ knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.018
Threshold uncertainty score0.035

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.008
GPT teacher head0.301
Teacher spread0.293 · 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 source (direct Gemma or distilled Codex), not a consensus.

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

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

Citations825
Published2014
Admission routes2
Has abstractyes

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