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Genetic epidemiology of autism spectrum disorders

2007· book-chapter· en· W74382381 on OpenAlexaff
Péter Szatmári, Marshall B. Jones

Bibliographic record

VenueCambridge University Press eBooks · 2007
Typebook-chapter
Languageen
FieldNeuroscience
TopicAutism Spectrum Disorder Research
Canadian institutionsMcMaster University
Fundersnot available
KeywordsAutismEtiologySchizophrenia (object-oriented programming)Heritability of autismPsychologyPsychiatric geneticsPsychiatryAutism spectrum disorderDevelopmental psychology

Abstract

fetched live from OpenAlex

Introduction Almost 30 years ago Hanson and Gottesman (1976) published a review article entitled “The genetics, if any, of infantile autism and childhood schizophrenia.” As the title suggests, the two authors found little evidence of a genetic role in the etiology of autism. “No strong evidence exists,” they wrote, “implicating genetics in the development of childhood psychoses that begin before the age of 5.” The viewpoint expressed in this article was not idiosyncratic and was generally held to be true at the time. Currently, the general viewpoint regarding autism has reversed itself completely. Autism today is thought to be one of the most heritable of all psychiatric conditions, more so than bipolar disorder or schizophrenia, and much more so than alcoholism or antisocial behavior. The issue today is not whether autism has a genetic basis but what that basis is, the specific genes involved, and how they act. Several developments were responsible for this reversal. The most influential was a series of twin studies, the first of which appeared a year after the Hanson and Gottesman review. Folstein and Rutter (1977) attempted “to obtain information on all school-age autistic twin pairs (same sex twins at least one of whom was autistic) in Great Britain.” This attempt was implemented in a variety of ways, including a list of autistic twin pairs collected over the years by the late Dr. M. Carter, a search of the records of all children known to the National Society for Autistic Children, and a request for cases published in the Society's newsletter.

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)0.002
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: Review
Teacher disagreement score0.009
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0030.003
Science and technology studies0.0000.001
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0050.000

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 head0.060
GPT teacher head0.272
Teacher spread0.212 · 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

Citations8
Published2007
Admission routes1
Has abstractyes

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