Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report
Bibliographic record
Abstract
Ataxia telangiectasia (AT) is a rare neurodegenerative condition with a prevalence of 1 in 40,000 to 1 in 300,000 worldwide. It involves a genetic mutation of chromosome 11q.26. The condition is inherited in an autosomal recessive manner causing atrophy of the cerebellum due to loss of Purkinje fibres. AT presents early in childhood and the clinical features depend on the type of mutation. The study is a case report of a rare genetic disorder of a 9-year-old female who came to the physiotherapy clinic with a diagnosis of AT. The patient was presented with progressively worsening gait problems with frequent falls, with complete dependence on assistance and impaired balance and coordination. The treatment program was 12 months divided into an intense physiotherapy program for two months followed by 10 months of two times per week of physiotherapy sessions. The program was divided into four elements which are: (1) Lifestyle changes, (2) Strengthening exercises, (3) Coordination exercises, and (4) Balance training exercises. The result showed a positive outcome in increasing the patient's independence, increased muscle strength, reduced ataxia symptoms intensity, and the patient can carry out complex activities with the help of accessory orthosis devices.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".