Editorial: Developmental delay and intellectual disability
Bibliographic record
Abstract
Intellectual Disability (ID) is characterised by impaired intellectual and adaptive function that starts during the developmental period (Global Research on Developmental Disabilities Collaborators, 2022).It is a lifelong condition and is among the most common neurodevelopmental disorders (Global Research on Developmental Disabilities Collaborators, 2018).Developmental Delay (DD) is a broad term that applies when one or more areas of a child's development are delayed (Global Research on Developmental Disabilities Collaborators, 2018).A disease-causing variant is identified in about half of individuals with DD and ID.Both copy number variants (CNVs) and single nucleotide variants (SNVs) are implicated as major causes of DD and ID (de Ligt et al., 2012;Olusanya and Nair, 2019); more than 130 rare CNVs and SNVs in more than 600 genes have been reported to be associated with this disease spectrum (de Ligt et al., 2012).Previous reports have shown that DD and ID can follow autosomal dominant, autosomal recessive, or X-linked modes of inheritance, as well as making a substantial contribution from de novo variants to the molecular aetiology (de Ligt et al., 2012;Black and Lawn, 2018).Further research into the identification of candidate causal genes will create opportunities to study the molecular mechanisms underlying the disease phenotype and will enable clinicians to make timely and accurate clinical diagnoses (American Psychiatric Association, 2013;Heslop et al., 2014;Black and Lawn, 2018).This will make it possible to group cohorts of cases with similar genetic aetiology and refine their phenotypes including the prognosis and course of the disease.Genetic diagnosis will allow mutational screening in families and make prevention possible through genetic counselling, prenatal, or pre-implantation diagnosis (Tatja et al., 2021).
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.021 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.003 | 0.002 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.006 | 0.006 |
| Open science | 0.003 | 0.002 |
| Research integrity | 0.014 | 0.017 |
| Insufficient payload (model declined to judge) | 0.027 | 0.025 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".