Fragile X syndrome: Are paediatric health care providers missing the diagnosis?
Bibliographic record
Abstract
A 12-month-old boy is referred to you for developmental delay. He was slow to roll over and began sitting unassisted at 10 months of age. In retrospect, the parents believe he was floppy and less sociable compared with his older sister. Otherwise, his health is generally good, with normal growth. The pregnancy and delivery were uncomplicated. On the maternal side, an aunt experienced infertility secondary to early menopause in her twenties, and the grandfather, currently in his sixties, has experienced some balance problems and a tremor. On physical examination, the height, weight and head circumference are all in the 50th to 85th percentiles. There are no dysmorphic features. The examination is noteworthy for generalized low muscle tone and reduced social interaction. The child is diagnosed with global developmental delay. Investigations show a full mutation in the FMR1 gene, consistent with fragile X syndrome (FXS). A referral for genetic counselling is recommended.
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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 | 0.006 | 0.064 |
| Meta-epidemiology (narrow) | 0.000 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.003 | 0.008 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.006 | 0.009 |
| Insufficient payload (model declined to judge) | 0.012 | 0.002 |
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".