Alterations of visual and auditory evoked potentials in fragile X syndrome
Bibliographic record
Abstract
BACKGROUND: Fragile X Syndrome (FXS) is the most common monogenic form of intellectual disability and one of the few known monogenic causes of autism. It is caused by a trinucleotide repeat expansion in the FMR1 ('Fragile X Mental Retardation 1') gene, which prevents expression of the 'Fragile X Mental Retardation Protein' (FMRP). In FXS, the absence of FMRP leads to altered structural and functional development of the synapse, while preventing activity-based synapse maturation and synaptic pruning, which are essential for normal brain development and cognitive development. Possible impairments in information processing can be non-invasively investigated using electrophysiology. METHODS: We compared auditory (AEP) and visual (VEP) evoked potentials in twelve adolescents and young adults (10-22 years) affected by FXS to healthy controls matched by chronological age (N=12) and developmental age of cognitive functioning (N=9; 5-7 years), using analysis of variance. RESULTS: In the visual modality, the N70 and N2 amplitude have been found increased in FXS in comparison to the chronological, but not the developmental control group at occipital sites, whereas in the auditory modality N1, P2 and N2 amplitude as well as N2 latency have been found increased in FXS, relative to both chronological and developmental control groups at mid-central sites. CONCLUSIONS: The AEP/VEP profile suggests disruptions in sensory processing specific to FXS that exceed immaturity of physiological activity. In addition, the auditory modality seems to be more affected than the visual modality. Results are discussed in light of possible underlying neuronal mechanisms, including deficits in synaptic pruning and neuronal inhibition that might account for a hyperreactive nervous system in FXS.
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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".