SP020HEALTH-RELATED QUALITY OF LIFE FOR PATIENTS WITH TUBEROUS SCLEROSIS COMPLEX AND ASSOCIATED MANIFESTATIONS
Bibliographic record
Abstract
INTRODUCTION AND AIMS: Renal angiomyolipomas (AMLs), epilepsy and subependymal giant cell astrocytoma (SEGA) are manifestations of tuberous sclerosis complex (TSC) that pose an important disease burden for patients with TSC. This study assessed the health-related quality of life (HRQoL) of patients with TSC who have associated AML, epilepsy and/or SEGA manifestations. METHODS: Patients with TSC managed in a TSC specialty center at the University Medical Center Utrecht (UMCU), Netherlands from 1990-2015 had their HRQoL measured in 2012 via a generic Health Utility Index (HUI), with a 66% response rate (242 respondents / 369 patients with TSC, with or without associated manifestations). The HUI evaluates 8 dimensions of health status including vision, hearing, speech, ambulation, dexterity, emotion, cognition and pain (HUI version 3). HUI values range from −0.371 to 1, with 0 corresponding to death and 1 to perfect health. Differences of 0.03 or greater in mean HUI score are generally considered clinically relevant. Mean HUI score and corresponding 95% confidence intervals (CIs) are reported for patients with different TSC manifestations and for additional subgroups of interest. Subgroups were identified based on the information collected from the patients’ medical charts at the UMCU stored in the TSC-U database. RESULTS: The study sample included 216 patients with TSC and associated manifestations that had completed the HUI. Median age was 39.0 years (92% adults), 113 (52%) were male, and all patients were Caucasian. Most patients with TSC manifestations had two or more different manifestations (156/216; 72%). TSC-AML was observed in 194 patients, TSC-epilepsy in 168 patients, and TSC-SEGA in 43 patients. Patients with multiple TSC manifestations appeared to have lower HRQoL scores than those with a single AML manifestation (mean HUI scores 0.31 to 0.33 vs. 0.41 to 0.78; Table). Epilepsy manifestations of TSC and epilepsy-associated conditions appeared to be associated with the greatest burden on the patient’s HRQoL vs. AML only: mean HUI score 0.41 for patients with epilepsy only, −0.15 for patients with TSC-epilepsy and paralysis, 0.16 for patients with TSC-epilepsy and low and very low intelligence coefficient, and 0.25 for patients with TSC-epilepsy and autism (vs. 0.78 for AML only; Table). Patients with TSC-epilepsy and prior use of antiepileptic drugs and patients with TSC-SEGA also had low HRQoL scores (0.25 and 0.41, respectively; Table). CONCLUSIONS: Most subgroups of patients with TSC in this study had mean HUI scores below the 0.80 HUI reference score for the US for non-Hispanic non-Black general adult population (Health Utilities, Inc) and also below the 0.67 HUI score previously reported among Canadian patients with both cancer and diabetes (Bowker et al. 2006). Scores for the subgroup of patients with both TSC and epilepsy were especially very low, with the exception of the subgroup that had prior epilepsy surgery. Identifying treatments to delay or prevent the progression of these TSC-related manifestations could improve the HRQoL of patients with TSC. SP020 Table Mean HUI scores in pts with different TSC manifestations and for additional subgroups of interest
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".