Evaluation of the functional capacity of patients with CADASIL in the state of Rio de Janeiro
Bibliographic record
Abstract
Background: Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) resulting from mutations in the NOTCH 3 gene on chromosome 19 is considered a rare condition and is the most prevalent hereditary small vessel vascular disease. Course with ischemic stroke, migraine and vascular dementia. It has a broad neuropsychiatric spectrum including mood changes, apathy and depression. The progression of the disease leads to the emergence of neurological sequelae and loss of functional capacity, physical and mental disability. Objective: This work aims to evaluate functional capacity, the occurrence of disability and cognitive decline in 28 patients from 11 families with CADASIL. Methods: Standardized functionality scales were applied, such as the modified Rankim scale (IRM), Barthel index (BI) and cognitive screening with the Montreal Cognitive Assessment (MoCA). The SPSS tool was used for statistical analysis of the results. Results: 28 cases from 11 families with lesions detected in the NOTCH3 gene were evaluated. 16 (57.1%) were women, 12 (42.9%) men; the average age was 46.36 years, the youngest age 22, the oldest age 67, the sample standard deviation was 12.53 years, coefficient of variation of 27.02%. The MoCA partnered 13 (46.4%) with cognitive impairment and 15 (53.6%) preserved cognitive impairment; MRI without symptoms in 19 (67.9%), without disability in 3 (10.7%), moderate disability in 5 (17.9%) and severe disability in 1 (3.6%); BI with a degree of severe functional dependence in 1 (3.6%), a degree of mild dependence in 8 (28.6%) and functional independence in 19 (67.9%). Conclusion: The application of the functionality and cognitive screening scales evaluated the sequelae of the disease, which were expressed in varying degrees of functional disability, physical disability and cognitive impairment. The sample had a predominance of women, the age variability between the second and sixth decade of life was compatible with literature data, with age being a homogeneous set. The IRM detected that the majority were able to carry out all their activities and take care of their own interests, showing no symptoms or moderate disability. The IB showed that the majority were functionally independent, although cases of severe disability for ADLs were identified. The high prevalence of cognitive impairment shows that neuropsychiatric symptoms can be present even in asymptomatic patients without functional disability. This study seeks to collect unprecedented epidemiological data on functionality in Brazil and be useful for adapting and collaborating in the development of health strategies.
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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 | 0.004 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 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".