A simple questionnaire to prevent blindness: a cross-sectional study screening for Stickler syndrome in children
Authors' conclusion
We demonstrate a clinically powerful screening tool capable of identifying children with underlying STL1, and thus this questionnaire can now be applied to at-risk children to inform the need for further specialist assessment.
Study context
- Population
- Children aged 4–10 years with and without COL2A1-confirmed STL1, recruited from a single specialist centre and online via Stickler Syndrome UK
- Participants
- 28 vs 26
- Exposure
- COL2A1-confirmed STL1 vs general paediatric population
- STL1n = 28
- General paediatricn = 26reference
- Outcome
- Median final score of the screening tool (questionnaire)
Methodological detailsscreening tool (questionnaire) evaluation, single specialist centre and online recruitment
- Screening tool (questionnaire) evaluation
- Single specialist centre and online recruitment
Main finding
As reported in the abstract
Screening tool final score, median (IQR)
| Group | Value | Sensitivity | Specificity |
|---|---|---|---|
| STL1 | median 7 (IQR 3.5) | 93% | 96% |
STL1
Valuemedian 7 (IQR 3.5)
Sensitivity93%
Specificity96%
- STL1 vs General paediatric: P < 0.001
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Individual screening tool components (myopia, palate abnormalities, family history of cleft palate, hypermobility)STL1 more likely to have each · secondary analysis | Hochberg-corrected all P < 0.005 |
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
A simple questionnaire to prevent blindness: a cross-sectional study screening for Stickler syndrome in children. Rheumatology (Oxford). Published 31 July 2026. doi:10.
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