P.125 Is idiopathic normal pressure hydrocephalus familial—what do we know thus far? Case report and critique of the literature
Bibliographic record
Abstract
Background: One aspect of idiopathic normal pressure hydrocephalus (iNPH) that has garnered interest is whether it can be familial. Thus far, the literature consists of several case reports, and two larger pedigree cohorts. Our objective is to highlight key deficiencies in such studies so far, illustrating them through a family case study of our own, and to propose a set of criteria that studies on familial iNPH should incorporate. Methods: Our case study is a retrospective chart review of three siblings, two male and one female, who were diagnosed with iNPH after the age of 60, and whose symptoms improved with cerebrospinal fluid (CSF) shunting. An interview with them revealed that their mother also exhibited symptoms of iNPH, but was never treated with a shunt. Results: Our family case is reflective of several deficiencies of familial iNPH research as a whole—unconfirmed diagnosis, especially confirmation with shunt responsiveness, and lack of measures of symptom improvement. Conclusions: Research on familial iNPH should focus on patients whose diagnosis is confirmed by shunt responsiveness, and should involve a system to objectively measure signs of NPH. Studies should also compare the prevalence of iNPH among first degree relatives of NPH patients to that in the general population.
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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 | 0.002 | 0.015 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.002 | 0.005 |
| Scholarly communication | 0.002 | 0.004 |
| Open science | 0.003 | 0.001 |
| Research integrity | 0.008 | 0.003 |
| Insufficient payload (model declined to judge) | 0.001 | 0.001 |
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".