Autistic Symptoms in Late Diagnosed Phenylketonuric Children in Upper Egypt
Why this work is in the frame
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Bibliographic record
Abstract
Background: Phenylketonuria (PKU) is the most common metabolic cause of mental retardation. Increased concentrations of Phe in PKU have a neurotoxic effect, contributing to the structural brain damage, severe mental retardation, and psychiatric disturbances. Co-occurrence of autism and PKU has been described in several studies. The toxic levels of Phe appear to play a significant role in the development of autism symptomatology. Our objective was to assess autistic features in a cohort of late diagnosed PKU children. Methods: Thirty-two PKU pediatric patients diagnosed after the age of one year and followed up at Pediatric University Hospital, Assiut University, Egypt. DSM-IV TR and CARS were used for diagnosis and classification of autism cases. FSIQ and MRI brain were done for all cases. EEG was done for cases with convulsions. Results: Autism was present in 8 (25%) cases; 3 were females and 5 were males, 2 had severe autism and 6 had mild/moderate autism, 5 patients had classic PKU and 3 had moderate PKU, 3 cases had mild mental retardation and five have moderate mental retardation. Conclusion: Delay in the diagnosis and management of PKU leads to very high incidence of intellectual disabilities and autistic features in these patients. doi: http://dx.doi.org/10.4021/jnr221w
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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 | 0.001 |
| 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 | 0.001 |
| 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