EPID-21ONE-YEAR INSTITUTIONAL REPORT OF THE FIRST CANADIAN ADULT NF1 MULTIDISCIPLINARY CLINIC, REPORTED IN THE CONTEXT OF SYSTEMATICALLY-IDENTIFIED EXPERIENCES OF PREVIOUSLY ESTABLISHED CENTERS
Bibliographic record
Abstract
BACKGROUND: Neurofibromatosis type 1 (NF1) is among the most common single-gene disorders. These patients are afflicted by a myriad of biopsychosocial challenges. A multidisciplinary approach to the diagnosis and management of patients with NF1 is necessary. A dearth of multidisciplinary clinics for adults is a palpable limitation. OBJECTIVES: To report our one-year institutional experience with the first Canadian multidisciplinary adult NF1 clinic at the University Health Network (UHN), in the context of other systematically-identified published experiences by established clinics worldwide. METHODS: The UHN NF1 clinic consists of 2 neurosurgeons and 2 neurologists with a permanent presence in the clinic. Clinics were initially once-monthly but have recently been increased to once-weekly. A modified version of the NF Patient Registry Initiative questionnaire was adapted for use as the patient intake questionnaire for new UHN NF1 patients. The MEDLINE, EMBASE, and CENTRAL electronic databases were systematically searched to identify publications pertaining to the experience of multidisciplinary adult NF1 clinics. Data on structure of clinics, patient epidemiology, along with management and follow-up strategies were recorded. RESULTS: Six articles were identified (range of 19-177 unique patients seen); two pertained to only adults and 5 pertained to a mixed population. The majority of clinics involved neurologists and medical geneticists as permanent members. The UHN NF1 clinic was the first in Canada and the first to involve neurosurgeons as permanent members. Sixty-six (of 86) unique patients completed the intake questionnaire. The demographic and clinical data from this Canadian population is mostly consistent with previous reports with some exceptions. Only 9% of patients were referred from a pediatric NF1 center. CONCLUSIONS: Our data offers valuable information to healthcare professionals and adult patients affected by NF1. Awareness of current limitations and areas of improvement would be of utility for establishing additional highly-necessary adult centers.
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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 | 0.001 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.003 | 0.006 |
| Science and technology studies | 0.005 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".