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- Winblad, Stefan, 1966, et al.
(författare)
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Neurocognitive disorder in Myotonic dystrophy type 1.
- 2024
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Ingår i: Heliyon. - 2405-8440. ; 10:10
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Tidskriftsartikel (refereegranskat)abstract
- Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited. The aim of this study was to examine the prevalence of signs of neurocognitive disorder (mild cognitive impairment and dementia) in adult patients with DM1. A total of 128 patients with childhood, juvenile, adult, and late onset DM1 underwent a screening using the Montreal Cognitive Assessment (MoCA). Demographic and clinical information was collected. The results revealed that signs of neurocognitive disorder were relatively rare among the participants. However, 23.8% of patients with late onset DM1 (aged over 60 years) scored below MoCA cut-off (=23), and this group also scored significantly worse compared to patients with adult onset. Age at examination were negatively correlated with MoCA scores, although it only explained a small portion of the variation in test results. Other demographic and clinical factors showed no association with MoCA scores. In conclusion, our findings indicate a low prevalence of signs of neurocognitive disorder in adult patients with DM1, suggesting that cognitive deficits rarely progress to severe disorders over time. However, the performance of patients with late onset DM1 suggests that this phenotype warrants further exploration in future studies, including longitudinal and larger sample analyses.
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| 2. |
- Winblad, Stefan, 1966, et al.
(författare)
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Self-perceived cognitive failures in patients with Myotonic dystrophy type 1 (DM1)
- 2024
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Ingår i: "Conferenece proceeding IDMC 14".
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Background: cognitive deficits in patients with DM1, as assessed with objective neuropsychological tests have garnered attention. However, the actual impact on daily life and the subjective experiences of these deficits remains unclear. This study aimed to explore self-perceived cognitive errors (such as forgetfulness, distractibility, and thinking blunders), their potential correlations with results from cognitive and emotional status screenings, and other demographic and disease related functions. Methods: a total of 127 adult patients underwent examination with the Cognitive Failures Questionnaire (CFQ, Broadbent, et al., 1982) and objective measures of cognition, mental health, fatigue, along with demographic and disease related factors collected at the Neuromuscular Centre, Sahlgrenska University hospital in Gothenburg, Sweden. Results: Results revealed self-perceived cognitive failures above proposed cut off (CFQ total score > 43) in 9.5 % of participants (CFQ score, M = 28.7, SD = 1.08). In a follow up conducted 3-5 years later, the prevalence of cognitive failures remained stable (CFQ-score, M = 29, SD = 1.25). CFQ ratings exhibited significant correlations with scores on depression, anxiety, and fatigue (p < .05), but not with objective measures on cognition. No differences in ratings on cognitive failures were found between patients with different DM1 subtypes, and CFQ scores did not correlate with demographic or other disease-related functions. Conclusion: CFQ ratings were comparable to those of healthy individuals (Goodman et al., 2022). Scores on cognitive failures were associated with emotional distress and fatigue. This suggests that these factors may have a more pronounced impact on self-perceived cognitive failures than objective cognitive deficits. Actual neuropsychological impairments in test performance may, to a small extent, contribute to cognitive challenges in daily life, if patients' subjective scores are deemed reliable.
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| 3. |
- Nordström, Sara, et al.
(författare)
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Cerebrospinal fluid CD4(+)/CD8(+)ratio in diagnosing neurosarcoidosis
- 2020
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Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 142:5, s. 480-485
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Tidskriftsartikel (refereegranskat)abstract
- Objective Neurosarcoidosis affects 5%-10% of patients with sarcoidosis. CD4(+)/CD8(+)ratio in bronchoalveolar lavage is included in diagnostic routine for pulmonary sarcoidosis. Previously, it has been suggested that a cerebrospinal fluid CD4(+)/CD8(+)ratio >= 5 can be an aid in diagnosing neurosarcoidosis. Materials and Methods This study included 66 cases where neurosarcoidosis was a differential diagnosis and hence subjected to the analysis of CSF CD4(+)/CD8(+)ratio by flow cytometry. Results Eleven cases of neurosarcoidosis, had a significantly higher median CSF CD4(+)/CD8(+)ratio than the other group,P = .024. The median CSF CD4(+)/CD8(+)ratio was 4.2, hence not reaching the suggested level of >= 5 for diagnosing neurosarcoidosis. When combined, the elevated CSF CD4(+)/CD8(+)ratio >= 5 and an elevated CSF lymphocyte count (>3 lymphocytes/uL) gave a positive predictive value of 57% and a high negative predictive value of 88%, with a specificity of 95% for neurosarcoidosis. Conclusion The study confirms that increased CSF CD4(+)/CD8(+)ratio is associated with neurosarcoidosis but cannot alone distinguish the conditions from other neurological diagnoses. However, a ratio below <5 combined with an absence of pleocytosis in CSF yields a negative predictive value (NPV) of 88% suggesting a role for the analysis in differential diagnosing neuroinflammatory conditions.
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