Cognitive assessment in patients with myotonic dystrophy type 2.

Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder. Previous studies conducted on small cohorts of DM2 patients indicated presence of a cognitive dysfunction. We aimed to assess cognitive functions in a larger cohort of Serbian DM2 patients using an extensive battery of neuropsychological tests. The study included 76 patients with a genetically confirmed DM2, 68 of whom had all tests for different cognitive domains performed. Patients underwent clinical and neuropsychological testing, including cognitive screening and assessment of general intellectual level, attention, executive and visuospatial abilities, memory, and language functions. Only 6% of patients achieved a below-average score on the general intellectual level test. Cognitive screening tests indicated presence of cognitive deficits in 5.5% of patients according to the Mini Mental State Examination test and 25.8% according to the Addenbrooke's Cognitive Examination Revised test. Twenty-four (35.3%) patients had a cognitive impairment (being two standard deviations out of norm in at least two cognitive domains). Around one quarter of DM2 patients had a significant cognitive impairment that interfered with their everyday functioning. Patients with significant cognitive impairment were older at testing and at disease onset, less educated, and had more severe muscle weakness.

Responsiveness of 2 Different Ability Outcome Measures in Guillain-Barré Syndrome.

BACKGROUND: The most frequently used ability outcome measure in Guillain-Barré syndrome (GBS) is the GBS disability scale (GDS). Recently developed inflammatory Rasch-built overall disability (I-RODS) scale has been suggested to be used in inflammatory polyneuropathies. In the present study, we wanted to assess the comparative responsiveness of I-RODS and GDS in subjects who were diagnosed with GBS during a follow-up period of 6 months. METHODS: Our prospective, multicentric study included 72 subjects. Patients were tested, using GDS and I-RODS, on day 14, day 28, month 3, and month 6 from the start of the symptoms. We defined improvement as a reduction for 1 or more points on GDS or improvement on I-RODS as defined by Draak (2014). RESULTS: Between days 14 and 28 there was an improvement in 28% of patients as measured with GDS and only in 10% patients as measured with I-RODS. At month 3 compared with day 14, we noticed an improvement in GDS score in 90% of GBS patients and I-RODS score in 65%. At month 6 improvements were noticed in 94% of patients measured by GDS and 78% according to I-RODS. CONCLUSION: Our findings support the use of GDS in an acute phase of GBS. I-RODS have their role mostly during a longer follow-up period when the majority of patients are ambulant and their other abilities besides walking are also of great importance.

Self-reported autonomic dysfunction in a recovery phase of Guillain-Barré syndrome.

OBJECTIVE: Autonomic dysfunction occurs in approximately two-thirds of Guillain-Barré syndrome (GBS) patients in the acute phase of the disease. Although improving over time, subclinical autonomic involvement may be present for 3-8 years after the GBS episode. The aim of this study was to determine the frequency of self-reported autonomic disorders in GBS patients three and six months after disease onset compared to healthy controls (HCs). METHODS: Our study included adult patients diagnosed with GBS from May 2017 until May 2018 in seven healthcare centers (67.6 % with demyelinating and 13.6 % with axonal syubtype). Functional disability was assessed by the Guillain-Barré syndrome disability scale (GDS). Each subject filled in the Serbian version of the SCOPA-Aut questionnaire. Using GDS and SCOPA-Aut, patients were tested at month 3 (M3) (n = 71) and month 6 (M6) (n = 70) from symptom onset. RESULTS: Dysautonomia was more common in patients with GBS compared to HCs at M3 (p < 0.01), while there was no difference at M6 (p > 0.05). Among autonomic disorders, constipation, complications to pass stool, and orthostatic hypotension were the most frequently reported. Patients with axonal variants had worse total SCOPA-Aut scores at M3 in comparison to AIDP patients (11.7 ± 10.1 vs. 6.1 ± 5.1, p < 0.05). GDS score correlated with the total SCOPA-Aut score. CONCLUSION: Autonomic symptoms are common in GBS patients during the recovery phase. They are more pronounced in patients with axonal forms of GBS and those with a higher degree of functional disability.

Incidence and mortality rates of Guillain-Barré syndrome in Serbia.

Guillain-Barré syndrome (GBS) is an acute auto-immune polyradiculoneuropathy. A huge variety of GBS incidence and mortality rates has been noted across the world. The objective of the present multi-centric study was to assess the incidence and mortality rates of GBS during a 10-year period in Serbia. We collected data of adult GBS patients who were hospitalized from 2009 to 2018 in all five tertiary healthcare centers in Serbia. The incidence rates per 100 000 inhabitants with 95% confidence intervals (CI) were calculated and further corrected for the estimated number of patients hospitalized in secondary centers. Mortality rates were also assessed. GBS was considered severe if patients were not able to walk at least 10 m without assistance. Six hundred and forty GBS patients were registered in tertiary centers in a 10-year period. The proportion of severe cases was 75% at nadir, and 52% on discharge. GBS incidence rate in Serbia was 1.1 per 100 000 inhabitants, and estimated incidence if patients from secondary centers included 1.2 per 100 000. Peak incidence was observed during the sixth decade of life. During the acute phase, 5.6% of GBS patients died, while overall 9.7% of them died during 6-month period from disease onset. This study contributes to our knowledge about GBS epidemiology. Results will allow us to improve the diagnosis and treatment of GBS patients in Serbia.

Disability and quality of life in Guillain-Barré syndrome - Longitudinal study.

Longitudinal health-related quality of life (QoL) data in Guillain-Barré (GBS) patients are still scarce. We, therefore, investigated health- related QoL in GBS patients from Serbia and surrounding countries during a six-month follow-up period, and analyzed its association with patients' disability. Our study comprised 74 adult patients diagnosed with GBS from May 2017 until May 2018 in seven tertiary healthcare centers. Health-related QoL was investigated using the SF-36 questionnaire, and compared with functional disability assessed by the GBS disability scale (GDS). Tests were performed at day 14, day 28, month 3 and month 6 from disease onset. GDS and SF-36 scores improved over time (p < 0.01). GDS scores were different at all four time points, while SF-36 did not differ between day 14 and day 28. Pooled SF-36 scores (especially physical ones) correlated with pooled GDS scores, except for Bodily Pain and Role Emotional scores. We found that GDS score at day 14 was an independent predictor of GDS score at month 6 (ß = +0.52, p < 0.01), while SF-36 score at day 14 was an independent predictor of SF-36 score at month 6 (ß = +0.51, p < 0.01). Neurologists should look not only on disability but also on QoL in GBS patients, since these two measures provide us with important complementary items of information.

Recurrent Guillain-Barré Syndrome - Case Series.

Recurrent Guillain-Barré syndrome (RGBS) episodes appear in up to 6% of Guillain-Barré syndrome (GBS) patients. The purpose of this study was to identify patients with previous episodes of GBS and to assess their clinical features in a large cohort of adult GBS patients. GBS patients hospitalized at tertiary centers in three Balkan countries were included in the study (n = 404). We identified 13 (3.2%) patients with recurrent GBS (RGBS). The male to female ratio was 3: 1. All RGBS patients had two episodes of the disease. The most common GBS subtype in both episodes of the disease was acute inflammatory demyelinating polyradiculoneuropathy (AIDP) (77%, first episode; 85%, second episode). Around 23% of patients presented with a different variant during the second GBS attack. Disability seems to be equally severe at both episodes (P > 0.05). Recurrent GBS was registered in 3% of our GBS patients. The majority of them were younger males. Different GBS subtypes were found to recur.

Three-Year Follow-Up Study in Patients with Guillain-Barré Syndrome.

A majority of patients with Guillain-Barré syndrome (GBS) have tendency of a good recovery. Our aim was to evaluate the outcome of the disease 1 and 3 years after GBS symptom onset. METHODS: During 2014, GBS was diagnosed in 82 patients in seven tertiary healthcare centers. Neurological follow-up was conducted in 57 (70%) patients after 1 year, and in 54 (66%) after 3 years. Functional disability was estimated according to the GBS disability scale (GDS), with a score of 0-3 indicating mild disability and a score of 4-6 indicating severe disability during acute phase, whereas a score >1 indicated poor recovery on follow-ups. Visual analog scale was used to assess sensory symptoms and musculoskelatal pain, and Krupp's Fatigue Severity Scale was used to asses fatigue. RESULTS: Poor functional outcome was found in 39% of GBS patients at year 1 and 30% at year 3. Paresthesias/dysesthesias were detected in 60% of patients after 1 year and 43% after 3 years. Musculoskeletal pain was present in 40% of patients at year 1 and 33% at year 3. Significant fatigue after 1 year was found in 21% of subjects and after 3 years in 7%. Parameters associated with poor functional outcome after 1 year were age >55 years (p=0.05), severe disability at admission (p1 indique une récupération difficile au moment des suivis. L'échelle visuelle analogue (EVA) a aussi été utilisée pour évaluer leurs symptômes sensoriels et leurs douleurs musculo-squelettiques. Enfin, l'échelle de gravité de la fatigue de Krupp a été utilisée pour évaluer leur degré de fatigue. Résultats: La première année, on a observé une piètre amélioration des capacités fonctionnelles chez 39% des patients atteints du SGB; pour la troisième année, cette proportion était de 30%. Au bout d'un an, on a aussi détecté la présence de paresthésie/dysesthésie chez 60% des patients; pour la troisième année, cette proportion était de 43%. Des douleurs musculo-squelettiques ont été rapportées chez 40% des patients après un an; deux ans plus tard, ce pourcentage chutait à 33%. Enfin, un état de fatigue important a été noté chez 21% des patients au bout d'un an; ce pourcentage n'était plus que de 7% au bout de trois ans. Les paramètres associés à une piètre amélioration des capacités fonctionnelles au bout d'un an étaient l'âge (>55 ans; p=0,05) ainsi qu'une incapacité sévère au moment de leur admission (p<0,05) et de leur congé (p<0,01). Au bout de trois ans, une piètre amélioration des capacités fonctionnelles était associée au sexe masculin (p<0,05) et à une incapacité sévère au moment d'obtenir un congé (p=0,06). CONCLUSIONS: Un an et trois ans après l'apparition des premiers symptômes du SGB, un nombre important de patients donnaient à voir des séquelles neurologiques, ce qui incluait une forme ou une autre d'incapacité fonctionnelle, des symptômes sensoriels, des douleurs et un état de fatigue.

Quality of life in patients with MuSK positive myasthenia gravis.

It is believed that myasthenia gravis (MG) with antibodies to muscle-specific tyrosine kinase (MuSK) is the most severe form of the disease, especially in the first years of the disease. The aim of our study was to investigate quality of life (QoL) in a population of patients with MuSK MG compared to those with MG who have antibodies to acetylcholine receptor (AChR) in their sera. The study group consisted of 35 MuSK MG patients (28 females and 7 males), while the control group included 38 AChR MG patients matched for gender, age, and duration of the disease. SF-36 questionnaire was used to evaluate the health-related QoL. Following scales were also used: Hamilton's scales for depression and anxiety, the Multidimensional Scale of Perceived Social Support, and the Acceptance of Illness Scale. Physical domain scores of QoL were similarly affected in both MuSK and AChR groups, while mental domain and total SF-36 scores were even better in MuSK MG patients. Social support was better in the MuSK group (77.3 ± 9.3 vs. 70.6 ± 14.1, p < 0.05). SF-36 total score correlated with depression (rho = 0.54, p < 0.01), anxiety (rho = 0.49, p < 0.01), and MSPSS (rho = - 0.35, p < 0.05), and depression was an independent predictor of worse QoL. Besides therapy of weakness, psychiatric treatment and different forms of psychosocial condition should be part of regular therapeutic protocols for MG. Adequate team work of health professionals and family can provide a healthy mental environment in which a MuSK MG patient would feel more comfortable in spite of the disease.

Guillain-Barré syndrome in the elderly.

The aim of the study was to analyze specific features of Guillain-Barré syndrome (GBS) in old people. The study included 403 GBS patients (62% young [<60 years], 35% young-old [60-80 years], and 3% old-old [>80 years]). Diagnosis of GBS was made according to the National Institute of Neurological Disorders and Stroke (NINDS criteria). Severe disability (GBS disability score of >3) at nadir was more common in old compared with young patients (p = 0.0001) as was mortality (9% vs. 2%, respectively). Acute motor and sensory axonal neuropathy and hyponatremia were more common in old compared with young patients (12% vs. 6% and 27% vs. 18%, respectively, p = 0.04). A positive history for malignancy was more than three times more common in old than young patients (11% vs. 3%, respectively, p = 0.01). Disability on nadir was similar in young-old and old-old subjects with disability on discharge being more severe in old-old (p = 0.04) suggesting slower recovery in this subgroup. Bulbar symptoms were more common in old-old compared with young-old (50% vs. 19%, respectively, p = 0.01). Comorbidities were present in virtually all old-old patients compared with 66% of young-old patients (p = 0.04). In conclusion, Elderly patients, and especially old-old patients, with GBS have more severe disease with slower recovery than do younger patients.