Developmental outcomes in children with congenital cerebellar malformations
Bibliographic record
Abstract
AIM: Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes. METHOD: Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Logistic regression analyses were used to assess associations between specific imaging features and neurodevelopmental outcomes. RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral cerebellar malformation (n=2). Overall, 85 percent (55/65) of the cohort had global developmental delay (GDD). Intellectual disability was present in 61 percent (27/43) and autism spectrum disorder (ASD) in 12 percent (6/52). Adjusting for supratentorial malformations and presence of genetic findings, severe GDD was associated with cerebellar hypoplasia (p=0.049) and PCH (p=0.030), whereas children with vermis hypoplasia were less likely to have severe GDD (p=0.003). Presence of supratentorial abnormalities was not significantly associated with worse neurodevelopmental outcome but was associated with epilepsy. INTERPRETATION: Children with CCMs have high prevalence of neurodevelopmental deficits. Specific features on imaging can aid prognostication and establish early intervention strategies. WHAT THIS PAPER ADDS: Atypical long-term neurodevelopmental outcome is very common in patients with congenital cerebellar malformations (CCMs). Involvement of the brainstem and cerebellar hemispheres predicts more severe neurodevelopmental disability. Most patients with vermis hypoplasia have language delay but are verbal. Supratentorial abnormalities are not significantly associated with worse neurodevelopmental outcome but are associated with epilepsy. Comorbidities are common in CCMs, especially ophthalmological issues in cerebellar hypoplasia and sensorineural hearing loss in pontocerebellar hypoplasia.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".