Neuropsychological Functioning in Children with Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD): The Impact of Early Diagnosis and Screening on Outcome
Bibliographic record
Abstract
Children with medium chain acyl coenzyme A dehydrogenase deficiency (MCADD) have been reported to be at high risk for neurocognitive deficits. However this has not been systematically studied and little is known about the exact nature of neuropsychological sequelae or of the impact of early diagnosis and screening on outcome. We examined cognitive and adaptive outcome in children with MCADD (N = 38, age range: 2 years, 2 months - 10 years, 3 months) diagnosed either through a newborn screening program(tandem mass spectrometry/MSMS) or upon clinical presentation. There was no evidence of overall intellectual impairment in either groups but there was some suggestion of poorer verbal and specific executive functioning (i.e., planning) abilities in the unscreened cohorts. Adaptive functioning was relatively intact with the exception of reduced Daily Living Skills in both our screened and unscreened groups. Early diagnosis and greater number of hospitalizations were related to higher verbal, communication, and socialization skills. Overall, our results highlight the importance of early diagnosis and management for children with MCADD.
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| 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 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".