Do the Clinical Features in Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia) Correlate With Brain Magnetic Resonance Imaging Findings?
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Bibliographic record
Abstract
BACKGROUND: Infantile-onset saccade initiation delay (ISID) is a defect in saccade initiation. Other features may include impaired smooth ocular pursuit, developmental delay, hypotonia, and ataxia. Brain magnetic resonance imaging (MRI) can be normal or show supratentorial or infratentorial abnormalities. Our aim was to correlate the clinical features of ISID with brain MRI findings. METHODS: Detailed review of the English medical literature between 1952 and 2012 revealed 67 studies with possible ISID. Patients without a brain MRI or with inadequate information, Joubert syndrome, neurodegenerative disorders, and acquired saccade initiation delay were excluded. Ninety-one patients (age range, 3 months to 45 years) met the inclusion criteria and were divided into 3 groups based on their brain MRI findings: normal (n = 55), supratentorial abnormalities (n = 17), and infratentorial abnormalities (n = 19). The patients' clinical features including the direction of head thrusts, smooth pursuit, optokinetic response (OKR), tone, development, and coordination were compared and analyzed among the MRI groups using χ test. RESULTS: Horizontal head thrusts were significantly more common in patients with infratentorial abnormalities or normal brain MRI, whereas vertical head thrusts were more common among patients with supratentorial abnormalities (P < 0.0001). The slow phases of the OKR were significantly more likely to be impaired in patients with supratentorial or infratentorial abnormalities than in those with a normal MRI (P = 0.011). Other neuro-ophthalmological, neurological, and developmental features were similar among patients in the 3 neuroimaging groups. CONCLUSION: The direction of head thrust and the integrity of the slow phases of the OKR are useful clinical indicators of possible sites of abnormality on brain MRI in patients with ISID.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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 | 0.001 |
| 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 it