A Clinical Assessment of Psychiatric and Cognitive Disorders in a Cohort of Adult Patients with Primary Mitochondrial Diseases
Bibliographic record
Abstract
Mitochondria are essential eukaryotic organelles, responsible for a wide variety of metabolic cell pathways. The most important is oxidative phosphorylation (OXPHOS), the process that produces ATP. Primary Mitochondrial Diseases (PMDs) represent a rare and very heterogeneous group of metabolic diseases affecting mitochondrial metabolic pathways. These conditions frequently involve organs highly dependent on aerobic metabolism, including the nervous system, and are often associated with psychiatric and cognitive comorbidities. This study aimed to determine the prevalence of psychiatric symptoms and cognitive impairment in our cohort, by administering the Symptom Checklist-90-Revised (SCL-90-R) and the Montreal Cognitive Assessment (MoCA). We studied a cohort of 38 Italian adult patients affected by genetically diagnosed or clinically suspected PMDs, determining for each subject the severity of the disease with the Newcastle Mitochondrial Disease Adult Scale (NMDAS). MRI data were available for 30 patients, 36 patients were administered SCL-90-R, whereas 30 were administered the MoCA. Overall, we found that in our cohort both cognitive and psychiatric comorbidities were very frequent. In addition, a statistically significant correlation between psychiatric symptoms and disease duration was observed, along with other non–significant trends. Conclusions: these findings support the importance of integrating cognitive and psychiatric assessments into routine clinical evaluation of patients with PMDs, in order to improve the management of these incurable and often disabling diseases.
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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".