Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: A mixed methods study
Bibliographic record
Abstract
INTRODUCTION: Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease. With the discovery of disease-modifying therapies, more infantile onset SMA patients will live to adulthood. The purpose of this study was to explore SMA patients' experience with adult care and their transition from pediatric care. METHODS: This was a convergent parallel mixed-methods design including a quantitative cross-sectional survey and qualitative interviews. A purposive sample of 20 participants was recruited. Quantitative data were collected using the Family Experiences with Care Coordination (FECC) survey. Qualitative data were collected using semi-structured interviews. Participants' experiences before, during, and after their transition to adult care were explored. Themes from interviews were identifiedResults:The mean age of participants was 40.5; 10 were male, 15 had SMA type 2, and 5 had SMA type 3. The FECC found that 7 patients had a care coordinator, 0 had a shared care or emergency plan, and 1 had a written transition plan. Three themes emerged from the semi-structured interviews: 1) a disjointed pediatric to adult care transition period 2) physically inaccessible adult healthcare settings and requirements for constant self-advocacy, and 3) suggestions for improving care including: multidisciplinary care teams and increased preparation of pediatric patients for the transition to adult care. DISCUSSION: The patient experiences captured in this study demonstrate the lack of transition plans and support for SMA patients when graduating to adult care. With more SMA patients anticipated to survive to adulthood, this problem will be exacerbated. Multi-disciplinary SMA pediatric to adult transition programs are necessary.
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How this classification was reachedexpand
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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".