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Aetiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours

2014· article· en· W2123037096 on OpenAlexvenueno aff
W.M.A. Verhoeven, J.I.M. Egger

Bibliographic record

VenueJournal of Intellectual Disability - Diagnosis and Treatment · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsEtiologySelection (genetic algorithm)PsychologyPhysical medicine and rehabilitationMedicineComputer scienceArtificial intelligencePsychiatry

Abstract

fetched live from OpenAlex

Since both intellectual disability and challenging behaviour are entities encompassing heterogeneous clinical conditions and current taxonomies are of limited use in this field of psychiatry, diagnosing psychiatric symptoms in intellectually disabled patients is still very complex. In the diagnostic process of psychiatric symptoms and behavioural abnormalities, the first step should be genome profiling using the latest techniques in order to detect pathogenic CNVs or single gene mutations that are causative for the developmental delay. Their importance can be derived from the scientific observation that several genetic syndromes are associated with a specific behavioural, psychiatric, neuropsychological or neurological symptom profile, relevant for both choice of treatment and prognosis. Second, it has to be stressed that psychiatric disorders, especially from the depression and anxiety spectrum, frequently manifest with atypical symptoms that may hamper adequate pharmacological treatment. With respect to challenging behaviours in general, it should be emphasized that these are essentially dependent on contextual variables for which no rational pharmacological treatment is available and behavioural interventions are primarily warranted. Prescription of psychotropics has been demonstrated to be marginally effective only and to induce regularly unwanted side effects or even an increase of abnormal behaviours. It is therefore recommended to measure always the plasma concentration of psychotropics and antiepileptics and to perform, preferably prior to the start of treatment, genotyping of relevant cytochrome isoenzymes. In is concluded that, apart from the a priori genetic analysis, careful investigation of the here described data sources is needed to formulate a diagnostic hypothesis and treatment proposal.

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)0.000
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.017
GPT teacher head0.246
Teacher spread0.230 · 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
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

Citations1
Published2014
Admission routes1
Has abstractyes

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Same venueJournal of Intellectual Disability - Diagnosis and TreatmentSame topicGenetics and Neurodevelopmental DisordersFrench-language works237,207