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Record W2101326438 · doi:10.1002/ajmg.a.30192

Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic

2004· article· en· W2101326438 on OpenAlexaff
Stavit A. Shalev, Judith G. Hall

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2004
Typearticle
Languageen
FieldNeuroscience
TopicWilliams Syndrome Research
Canadian institutionsBC Children's Hospital
Fundersnot available
KeywordsGeneticistBehavioral patternMedical geneticsBehavioural geneticsSimple (philosophy)Behavioural sciencesPsychologyHomogeneousComputer scienceCognitive psychologyArtificial intelligenceEvolutionary biologyDevelopmental psychologyBiologyGenetics

Abstract

fetched live from OpenAlex

Careful descriptions of dysmorphic features have led to the delineation of hundreds of specific syndromes and patterns of congenital anomalies. The defining of unusual behavior had largely been neglected by clinical geneticists until the study of the natural history of microdeletions revealed that each has unique and characteristic behavior(s). In this study, a simple tool to describe behavior is presented that is to be used in the genetics clinic as part of routine evaluation. The form is meant to simplify recording and does not require the formal training needed for psychological assessments. It is hoped that routine recording of behavior among individuals seen in the genetics clinic will lead to better recognition of unusual behavior among individuals with known conditions, as well as the recognition of conditions characterized only by unusual behavior. Better description of behavioral patterns should lead to the ascertainment of homogeneous groups of affected individuals with abnormalities in the functional pathways that generate patterns of reaction. The genetic and biochemical basis for these patterns of reaction (abnormal behavior) should then be available for both natural history and molecular studies. The tool consists of 12 categories of behavioral features that can be assessed by the medical geneticist. The list was built to allow the observation of as many behavioral aspects as possible, but to keep it to a practical size and to use those features that are simple to describe and quantitate. We expect that its use will produce a rich source of behavioral profiles and will eventually contribute to the better understanding of unusual behavior.

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)0.002
metaresearch head score (Gemma)0.010
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.034
Threshold uncertainty score0.114

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.010
Meta-epidemiology (narrow)0.0020.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0070.002
Science and technology studies0.0000.000
Scholarly communication0.0010.002
Open science0.0010.002
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0340.016

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 head0.171
GPT teacher head0.420
Teacher spread0.249 · 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 designNot applicable
Domainnot available
GenreMethods

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

Citations6
Published2004
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicWilliams Syndrome ResearchFrench-language works237,207