Cholesteatoma in Children with Sotos Syndrome
Bibliographic record
Abstract
BACKGROUND: Sotos syndrome is a rare genetic disorder characterized by neurodevelopmental delay and excessive childhood growth including macrocephaly. In this study, we present our experience of children with Sotos syndrome and cholesteatoma. METHODS: Retrospective case note review and cross-referencing with hospital picture archive and communication systems or cases identified from a prospective database of consecutive cholesteatoma surgeries. RESULTS: A total of 400 children underwent surgery for acquired cholesteatoma and 5 (1%) had Sotos syndrome (1 bilaterally). In comparison, 42(11%) had cleft palate which is around 10 times more common than Sotos syndrome, 5 (1%) had Down syndrome, and 3 (1%) had Turner syndrome. The median age at primary surgery was 8 years old (3.5-10.9 years), 124 children with Sotos syndrome were identified in picture archive and communication systems (4% with cholesteatoma) of which temporal bone imaging was available in 86 (70%) at the median age of 9 years (0-17.2), and 33/86 (38%) had normal ears bilaterally on all imaging. Changes consistent with fluid or inflammation were present in 9/30 (30%) computed tomography and 24/72 (33%) magnetic resonance imaging scans. Development of mastoid pneumatization was impaired in 20/30 (67%) computed tomography and 8/72 (11%) magnetic resonance imaging scans. At 5 years, children with Sotos syndrome (33%) had greater recidivism than those with cleft palate (15%) (Kaplan-Meier log-rank analysis, P=.001) CONCLUSION: Children with Sotos syndrome appear to be at increased risk of developing acquired cholesteatoma. Impaired temporal bone pneumatization is a common incidental finding in Sotos syndrome in keeping with this risk. Further study of this previously unreported association may improve the understanding of pathogenetic mechanisms in cholesteatoma.
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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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".