Patient reported outcomes in Usher Syndrome: a systematic review
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
INTRODUCTION: Usher Syndrome (USH) is a leading cause of deaf-blindness and significantly impacts quality of life. With no cure, it is essential to focus on addressing functional impairments and emotional well-being in 10 affected individuals. METHODS: A systematic search was conducted on MEDLINE, Embase, PsychInfo, CINHAL, Web of Science, and Cochrane Library until 4 September 2024 to identify studies on patient-reported outcomes (PROs) in USH. RESULTS: 27 studies (1,009 participants, mean age 47.0, 52.4% female) focused on USH, with 74.1% having type 2, 31.4% having type 1, and 6.8% having type 3. 18 studies used quantitative methods, and 9 were qualitative. The Glasgow Benefit Inventory (GBI) was the most common PRO measure, followed by the Nijmegen Cochlear Implant Questionnaire, Usher Lifestyle Survey (ULS), and SF-12 (2 studies each). Weighted GBI scores indicated moderate benefits, but lower physical scores highlighted ongoing limitations. The ULS found that participants needed equipment for information access and mobility assistance. Notably, no studies addressed vision-related interventions, and only one used a vision-specific PRO measure. Qualitative findings emphasized psychological well-being and social support. DISCUSSION: PRO data in USH is limited, underscoring the need for standardized measures and vision-related interventions. Ongoing challenges emphasize the need for multidisciplinary approaches to improve quality of life.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.007 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.006 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it