Qualitative analysis of pain impact in adult patients with X-linked hypophosphatemia
Bibliographic record
Abstract
We previously reported pain as a predominant finding in adult patients with X-linked hypophosphatemia (XLH). This study explored health-related quality of life using the 36-Item Short Form Survey Instrument (SF-36v1) and pain experiences of adults with XLH through qualitative analysis of interviews with 15 patients (11 females, 4 males). Age-adjusted differences using SF-36 were lower than the general population in all domains of health-related quality of life, with significant differences notably related to physical function and pain. Ten themes emerged from semi-structured interviews: (1) chronic and variable pain: patients reported persistent pain of varying intensity and location; (2) impact on mobility and daily life: pain severely restricted daily activities, affecting lifestyle, employment, and independence; (3) pain management: patients used medications, physical therapy, lifestyle changes, alternative therapies, and assistive devices; (4) healthcare and accessibility challenges: access to appropriate care and treatments was limited by insurance issues and healthcare providers' lack of XLH knowledge; (5) emotional and psychological impact: chronic pain and limitations led to social isolation, depression, and emotional burden; (6) desire for improved information and support: patients sought better information, treatment, and community support; (7) challenges with physical inactivity: staying active was essential but difficult, as inactivity worsened pain; (8) navigating healthcare services: accessing therapy and insurance was often challenging; (9) long-term outlook and concerns: patients worried about disease progression and future health; and (10) advocacy and awareness: increased public and medical awareness was needed to improve care. Although pain is not a universal experience within this population, it is a significant issue for many individuals with XLH. These data illustrate the profound impact of XLH on multiple life aspects underscoring the need for effective pain management strategies, better healthcare accessibility, supportive tools, and a more knowledgeable medical community to improve quality of life. Insights from this study will guide the development of a digital pain self-management intervention tailored to XLH patients to address these needs.
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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 | 0.013 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.003 | 0.003 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.004 |
| Research integrity | 0.001 | 0.002 |
| 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".