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Record W2020561157 · doi:10.1002/ajmg.a.33050

Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID

2009· article· en· W2020561157 on OpenAlexaff
Nancy Makela, Patricia Birch, Jan M. Friedman, Carlo A. Marra

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2009
Typearticle
Languageen
FieldPsychology
TopicFamily and Disability Support Research
Canadian institutionsCentre for Advancing Health OutcomesUniversity of British Columbia
Fundersnot available
KeywordsEtiologyMedical diagnosisPsychologyValue (mathematics)Intellectual disabilityAutismDevelopmental psychologyClinical psychologyQualitative researchMedicinePsychiatryPediatricsPathology

Abstract

fetched live from OpenAlex

Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents of 20 children with ID, 10 with and 10 without a causal or an etiological diagnosis were interviewed in depth about the value they place on such a diagnosis. They were asked about experiences acquiring services, use of support groups, interactions with family and friends, and opinions on prenatal diagnosis. Parents were also asked whether their child's diagnostic status had influenced these events or affected the couple's reproductive decisions. Finally, parents were asked whether their interest regarding the importance of an etiological diagnosis had changed over time. Interview transcripts were analyzed to determine values parents place on etiological diagnoses and comparisons were made between the two groups. These parents felt the need for a diagnosis most intensely when developmental concerns were first noted, and most parents agreed that this intensity diminished over time. All would have preferred to have an etiological diagnosis, but for some the only reason was curiosity. Validation was the most important value attributed to a diagnosis: it offered legitimacy for the child's behavior and appearance. However, a descriptive label, such as autism, was often more useful to parents than a rare but specific etiological diagnosis. Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID.

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)0.006
metaresearch head score (Gemma)0.017
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Qualitative · Consensus signal: Qualitative
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.016
Threshold uncertainty score0.034

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.017
Meta-epidemiology (narrow)0.0000.001
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0040.005
Scholarly communication0.0030.002
Open science0.0010.003
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0020.000

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 head0.064
GPT teacher head0.435
Teacher spread0.371 · 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 designQualitative
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

Citations90
Published2009
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicFamily and Disability Support ResearchFrench-language works237,207