Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome
Bibliographic record
Abstract
The aim of the study was to investigate the behavioral phenotype of patients affected with Bardet-Biedl syndrome (BBS). Twenty-four patients with molecularly confirmed diagnosis of BBS (6-38 years old) were evaluated using standardized neuropsychological tests. Results were compared with normative data. The mean intellectual functioning of participants fell 1.5 standard deviations below normal expectations; though, the majority of participants (75-80%) did not display an intellectual disability. The group's mean performance on most cognitive tasks and all scales of adaptive functioning was significantly weaker than norms. The majority (55-60%) of participants displayed broadly average verbal fluency and auditory rote learning, while 22-40% were severely impaired in the same areas. The majority of participants were severely impaired in perceptual reasoning (53%), attentional capacity (69%), and functional independence (74%). Symptoms associated with Autism were reported for 77% of participants. Behavioral issues were unrelated to intellectual ability but significantly correlated with adaptive functioning. This first neurocognitive evaluation of a molecularly confirmed cohort of BBS patients shows that the majority of patients experience significant difficulties with perceptual intellectual abilities, auditory attentional capacity, adaptive independence, and behavior. The frequency of autism-related symptoms far exceeds the incidence rate of diagnosed autism in general and warrants further investigations.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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".