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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 OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

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.

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)0.003
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.725
Threshold uncertainty score0.365

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
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 head0.171
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