| 1. |
- Rudenholm, Magnus, et al.
(författare)
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Cerebrospinal Fluid Biomarkers in DM1: a 14-year Follow Up Study.
- 2019
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Ingår i: IDMC-12, Göteborg 2019, Konferensprogram.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: DM1 affects cognition, but worsening over time and relation to cerebrospinal fluid (CSF) biomarkers is yet unclear. The aim of this study was to investigate this further. Methods: CSF levels of beta amyloid 1-42 (Aβ42), total- and phosphorylated tau protein (t-tau/p-tau), neurofilament light chain (NFL), glial fibrillary acid protein (GFAP) and cognitive performance on neuropsychological tests were measured in 17 patients with DM1 at baseline 2004 and follow up 2018. Results: CSF-Aβ42 was decreased in 1 patient (5.9%) at follow up compared to 6 patients (35%) at baseline (p <0.001). Remaining biomarkers were without change or pathology. Patients scored worse on cognitive measures at follow-up, unrelated to CSF biomarkers. Conclusions: Cognitive decline was observed but could not be related to disturbance in CSF-biomarkers. This suggesting a neurodegenerative process not intense enough to be observable using the employed biomarkers.
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| 2. |
- Winblad, Stefan, 1966, et al.
(författare)
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Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM-1)
- 2006
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Ingår i: Behavioral and Brain Functions. ; , s. 1-6
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Tidskriftsartikel (refereegranskat)abstract
- Cognitive abilities were explored in patients with classical myotonic dystrophy type 1 (DM-1). In comparison to normative collectives patients with DM-1 scored lower on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. Furthermore it was found that longer CTG repeat sizes were associated with lower results on most tests associated with these abilities but also overall cognitive ability. These findings underscore the importance of considering behavioural anomalies when seeing patients with DM-1 in clinical practice and the need for further research on neurocognitive aspects of this disease.
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| 3. |
- Winblad, Stefan, 1966, et al.
(författare)
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Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion
- 2006
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Ingår i: Journal of Neurology, Neurosurgery, and Psychiatry. ; , s. 219-223
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Tidskriftsartikel (refereegranskat)abstract
- The primary aim of this study was to investigate Myotonic dystrophy type 1 (DM-1) patient’s ability to recognize basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological, personality and CTG-repeat expansion data in the DM-1 group. Fifty patients with DM-1 (28 women and 22 men) participated in the study together with 41 healthy controls. Recognition of facial emotional expressions was assessed using photographs of basic emotions. A set of tests measured cognition and personality dimensions and CTG repeat size was quantified in blood lymphocytes. DM-1 patients showed an impaired recognition of facial emotions in comparison to controls. These deficits mostly concerned the recognition of negative emotions, mainly anger and fear. A significant negative correlation was found between total score of emotion recognition in a forced choice task and CTG repeat size. Furthermore, specific cognitive functions (vocabulary, visuospatial construction ability and speed) and personality dimensions (Reward dependence and Cooperativeness) correlated with scores on the forced choice emotion recognition task. These findings revealed a CTG repeat-dependent facial emotion recognition deficit in the DM-1 group associated with specific neuropsychological functions. Furthermore, a correlation was found between facial emotional recognition ability and personality dimensions associated with sociability. This adds a new clinically relevant dimension in the cognitive deficits associated with DM-1.
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| 4. |
- Winblad, Stefan, 1966, et al.
(författare)
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Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion
- 2006
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Ingår i: Journal of Neurology, Neurosurgery and Psychiatry. - 0022-3050. ; 77:2, s. 219-223
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To investigate the ability of patients with myotonic dystrophy type 1 to recognise basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological data, personality, and CTG repeat expansion data in the DM-1 group. Methods: In total, 50 patients with DM-1 (28 women and 22 men) participated, with 41 healthy controls. Recognition of facial emotional expressions was assessed using photographs of basic emotions. A set of tests measured cognition and personality dimensions, and CTG repeat size was quantified in blood lymphocytes. Results: Patients with DM-1 showed impaired recognition of facial emotions compared with controls. A significant negative correlation was found between total score of emotion recognition in a forced choice task and CTG repeat size. Furthermore, specific cognitive functions (vocabulary, visuospatial construction ability, and speed) and personality dimensions (reward dependence and cooperativeness) correlated with scores on the forced choice emotion recognition task. Conclusion: These findings revealed a CTG repeat dependent facial emotion recognition deficit in the DM-1 group, which was associated with specific neuropsychological functions. Furthermore, a correlation was found between facial emotional recognition ability and personality dimensions associated with sociability. This adds a new clinically relevant dimension in the cognitive deficits associated with DM-1.
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| 5. |
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| 6. |
- Ashizawa, T., et al.
(författare)
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Consensus-based care recommendations for adults with myotonic dystrophy type 1
- 2018
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Ingår i: Neurology-Clinical Practice. - : Ovid Technologies (Wolters Kluwer Health). - 2163-0402 .- 2163-0933. ; 8:6, s. 507-520
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Forskningsöversikt (refereegranskat)abstract
- Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.
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| 7. |
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| 8. |
- Brandberg, M, et al.
(författare)
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A comparative study of simple and interference reaction times in men and women
- 2018
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Ingår i: Conference program The 13th Nordic Meeting in Neuropsychology Stockholm, 2018.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: studies on reaction time (RT) indicate faster reactions for men than women. However, when comparing samples across decades, this difference seems to decrease. The aim of this study was to explore reaction times in a large contemporary sample of adult males and females (age range = 15-82). Methods: simple reaction time and interference reaction time (a go/no go reaction task) were measured with the Vienna Reaction Apparatus (Wiener Reaktionstest, Schuhfried), RT, version S1 and S2 for simple reaction time and version S3 and S4 for interference reaction time. Results Men responded faster on the interference reaction task, S3 (M=441,57, SD=80,86) than women (M=461,53, SD=91,53). This difference was significant,t(3,7) = p<0,001 and represent a small sized effect, d= .21. There were no significant differences regarding simple reaction time (S1 and S2) or on the other interference task (S4). In regards to intraindividual variability there was a significant difference, t(3.1), p=.002, d=.21, with less variability in males (M=65.99) as compared to females (M=70,45) on S3. Conclusions: when comparing groups, men performed slightly faster on one of the interference tasks. However, there were no significant differences on the other measures. This result is consistent with previous studies indicating a decrease in differences on reaction times, comparing men and women. Grant support: Skaraborg Research and Development Council, Research Fund at Skaraborg Hospital and The Swedish Stroke Association.
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| 9. |
- Brandberg, Martin, 1972, et al.
(författare)
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A comparative study on simple and interference reaction times in women and men.
- 2018
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Ingår i: Conference program, The 13th Nordic Meeting in Neuropsychology, Stockholm, 2018.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: studies on reaction time (RT) indicate faster reactions for men than women. However, when comparing samples across decades, this difference seems to decrease. The aim of this study was to explore reaction times in a large contemporary sample of adult males and females (age range = 15-82). Methods: Simple reaction time and interference reaction time (a go/no go reaction task) were measured with the Vienna Reaction Apparatus (Wiener Reaktionstest, Schuhfried), RT, version S1 and S2 for simple reaction time and version S3 and S4 for interference reaction time. Results: men responded faster on the interference reaction task, S3 (M=441,57, SD=80,86) than women (M=461,53, SD=91,53). This difference was significant, t(3,7) = p<0,001 and represent a small sized effect, d = .21. There were no significant differences regarding simple reaction time (S1 and S2) or on the other interference task (S4). In regards to intraindividual variability there was a significant difference, t(3.1), p =.002, d =.21, with less variability in males (M =65.99) as compared to females (M=70,45) on S3. Conclusions: when comparing groups, men performed slightly faster on one of the interference tasks. However, there were no significant differences on the other measures. This result is consistent with previous studies indicating a decrease in differences on reaction times, comparing men and women.
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| 10. |
- Edofsson, Ulrika, et al.
(författare)
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The Reliability and Validity of the Swedish Version of the Fatigue and Daytime Sleepiness Scale (FDSS)
- 2017
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Ingår i: Conference book for IDMC-11. San Fransisco, California, Usa: 5-9 September.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: Fatigue and excessive daytime sleepiness are frequently experienced by patients with DM1 and these symptoms have a negative impact on daily activity, participation and quality of life. Although there are few successful treatment options, there exists a need to develop instruments with the aim to reliably measure symptoms and follow patients over time in clinical practice and research. The aim of this study was to translate and psychometrically evaluate the Fatigue and Daytime Sleepiness Scale (FDSS). Shortly, the FDSS has been devised with the aim to measure these symptoms as a single clinical entity, consisting of 12 self-assessment questions covering both fatigue and daytime sleepiness. The original version of FDSS has been found to be reliable and valid. The study was performed at the Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden. Methods: The FDSS was translated into Swedish using the forward-and backward procedure. The scale was administered to 43 patients on two occasions at a two week interval. At baseline assessment, the patients also received the question of whether they experienced fatigue and/or sleepiness (yes or no). The group of patients consisted of 24 women and 19 men with an average age of 46.9 years (four with the childhood form, 32 classical and seven with a late onset). The statistical analysis included an evaluation of intra-rater reliability, internal consistency and construct validity. Results: The FDSS showed an excellent intra-rater reliability (PCC = .91) and acceptable internal consistency (Cronbach’s alpha = .71). The scale successfully distinguished patients experiencing fatigue and sleepiness from those who did not (mean FDSS score of 10.8 vs 7.1, p = .002). Discussion: The present study supports the use of the translated version of the FDSS for the measurement of fatigue and daytime sleepiness in patients with DM1. Grant Support: West Sweden Muscle Foundation.
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