Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?
Bibliographic record
Abstract
OBJECTIVE: Congenital hypothyroidism (CHT) is a common cause of preventable mental retardation, and the quantification of intellectual disability due to CHT is needed to assess the public health benefit of newborn screening. DESIGN: Review of published studies conducted among children born prior to the introduction of newborn screening for CHT and reporting cognitive test scores. SETTING: Population-based studies. PATIENTS: Children with clinically diagnosed CHT. INTERVENTIONS: Thyroid hormone substitution. MAIN OUTCOME MEASURES: Intelligence quotient (IQ) (mean and distribution). RESULTS: The prevalence of recognised CHT rose from one in 6500 prior to screening to approximately one in 3000 with screening. In four population-based studies in high-income countries, among children with clinically diagnosed CHT 8-28% were classified as having intellectual disability (defined as an IQ <70) and the mean IQ was 85 (a leftward shift of 1 SD). Among children with subclinical CHT, the risk of overt intellectual disability was lower (zero in one study), but decreased intellectual potential and increased behavioural abnormalities were documented. CONCLUSIONS: Although the prevalence of overt disability among children with CHT in the absence of screening may be less than previously estimated, the preventable burden of intellectual disability due to CHT is substantial and justifies newborn screening. However, changes in existing newborn screening protocols to capture more cases are unlikely to prevent overt cases of disability and should therefore be justified instead by the documentation of other benefits of early detection.
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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 | 0.005 | 0.028 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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.
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".