Speech and Language Issues in Children with Prader-Willi Syndrome
Bibliographic record
Abstract
Background: Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of the paternal contribution of Chromosome 15q11.2-q13.2 region. It is associated with global developmental delays, including speech and language delay. There is no information regarding the prevalence of apraxia of speech in this syndrome, despite the fact that it is often recognized clinically. In this study, we sought to investigate the prevalence of apraxia in children with PWS and speech and language delay. Methods: Thirty children with genetically confirmed PWS, ages 22 months to 9 years of age, were evaluated by a certified speech-language pathologist due to physician concerns about speech and language development. Children were assessed by a variety of tests based on their age. Results: Sixteen children had receptive language deficits and 18 had expressive language deficits. Fourteen of the thirty children (47%) had results on evaluation that were consistent with apraxia, of which 57% were male, and 71% (p<0.001) had deletion-type PWS. Conclusion: As expected, children with PWS who are referred for concerns about speech and language development are commonly found to have receptive and expressive language deficits. However, there was a high prevalence of apraxia in our patients, which has not previously been reported in this population. We recommend that children with PWS be evaluated for apraxia by a speech-language pathologist once their expressive language skills are developed enough for speech assessment. The diagnosis of apraxia will necessitate specific speech therapy techniques which may not otherwise be used for individuals with this syndrome, thus resulting in more severe and prolonged speech delays.
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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".