scholarly journals Cognitive profile of patients with facioscapulohumeral muscular dystrophy

2021 ◽  
Vol 15 (4) ◽  
pp. 541-547
Author(s):  
Vanessa Brzoskowski dos Santos ◽  
Jonas Alex Morales Saute ◽  
Laís Alves Jacinto-Scudeiro ◽  
Annelise Ayres ◽  
Rafaela Soares Rech ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Verbal Fluency ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Cognitive Profile ◽  
Life Assessment ◽  
Long Term Memory ◽  
Term Memory

ABSTRACT Although it is predominantly a muscular disease, impairments in the central nervous system in patients with facioscapulohumeral muscular dystrophy (FSHD) have been described in the literature. Objective: To describe the cognitive profile of patients with FSHD and to correlate the impairments found with clinical variables and quality of life. Methods: Cross-sectional and case–control study that evaluated FSHD patients using a series of cognitive assessments (Mini-Mental State Examination — MMSE, Montreal Cognitive Assessment — MoCA, verbal fluency with phonological restriction — FAS, categorical verbal fluency — FAS-cat, trail-making test — TMT, and Rey’s Verbal Auditory Learning Test); a neurological severity scale (Gardner–Medwin–Walton — GMWS); and a quality of life measurement tool (Medical Outcomes Study 36-Item Short-Form Health Survey). Results: Individuals with FSHD (13) and healthy controls (26) were paired by gender and age. Significant differences between case and control groups were found in MMSE, TMT A, and A7 (p≤0.05) and MOCA (p≤0.001) performances. A positive correlation was verified in long-term memory impairments and the age in which symptoms appear (r=-0.593, p=0.033). Regarding quality of life assessment, the emotional domain correlated to MEEM (r=0.657, p=0.015), TMT A (r=-0.601, p=0.030), and A7 (r=0.617, p=0.025) performances. Conclusions: Individuals with FSHD presented mild impairments in the performance of tasks that involve attention, planning, and long-term memory functions. Those impairments were associated neither with the disease duration nor with its neurological severity.

scholarly journals Similar Profile and Magnitude of Cognitive Impairments in Focal and Generalized Epilepsy: A Pilot Study

2022 ◽  
Vol 12 ◽  
Author(s):  
Helena Gauffin ◽  
Anne-Marie Landtblom ◽  
Patrick Vigren ◽  
Andreas Frick ◽  
Maria Engström ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cognitive Function ◽  
Focal Epilepsy ◽  
Cognitive Impairments ◽  
Self Esteem ◽  
Long Term Memory ◽  
Term Memory ◽  
Generalized Epilepsy

Introduction: Cognitive impairments in epilepsy are not well-understood. In addition, long-term emotional, interpersonal, and social consequences of the underlying disturbances are important to evaluate.Purpose: To compare cognitive function including language in young adults with focal or generalized epilepsy. In addition, quality of life and self-esteem were investigated.Patients and Methods: Young adults with no primary intellectual disability, 17 with focal epilepsy and 11 with generalized epilepsy participated and were compared to 28 healthy controls. Groups were matched on age (mean = 26 years), sex, and education. Participants were administered a battery of neuropsychological tasks and carried out self-ratings of quality of life, self-esteem, and psychological problems.Results: Similar impairments regarding cognitive function were noted in focal and generalized epilepsy. The cognitive domains tested were episodic long-term memory, executive functions, attention, working memory, visuospatial functions, and language. Both epilepsy groups had lower results compared to controls (effect sizes 0.24–1.07). The total number of convulsive seizures was predictive of episodic long-term memory function. Participants with focal epilepsy reported lower quality of life than participants with generalized epilepsy. Lowered self-esteem values were seen in both epilepsy groups and particularly in those with focal epilepsy. Along with measures of cognitive speed and depression, the total number of seizures explained more than 50% of variation in quality of life.Conclusion: Interestingly, similarities rather than differences characterized the widespread cognitive deficits that were seen in focal and generalized epilepsy, ranging from mild to moderate. These similarities were modified by quality of life and self-esteem. This study confirms the notion that epilepsy is a network disorder.

Long-Term Effectiveness of Fingolimod for Multiple Sclerosis in a Real-World Clinical Setting

2021 ◽  
pp. 1-6
Author(s):  
Cihat Uzunköprü ◽  
Yesim Beckmann ◽  
Sabiha Türe
Keyword(s):  
Quality Of Life ◽  
Multiple Sclerosis ◽  
Real Life ◽  
Life Assessment ◽  
Health Related Quality ◽  
Serious Adverse Events ◽  
Related Quality ◽  
Health Related

<b><i>Introduction:</i></b> The primary aim of the present study was to evaluate the long-term efficacy of fingolimod in patients with multiple sclerosis (MS); secondary aims were to describe the safety of fingolimod with the evaluation of treatment satisfaction and impact on the quality of life in real life. <b><i>Methods:</i></b> We collected clinical, demographical, neuroradiological, and treatment data, including pre- and posttreatment status health-related quality of life from 286 MS patients consecutively treated with fingolimod. Clinical assessment was based on the Expanded Disability Status Scale (EDSS), and quality of life assessment was performed with MS-related quality of life inventory (MSQOLI). The data were recorded at baseline and every 6 months for 2 years. <b><i>Results:</i></b> One hundred and fourteen males and 172 females were enrolled. The annualized relapse rate and EDSS showed a statistically significant reduction during the observation period (<i>p</i> &#x3c; 0.001). The patients also demonstrated substantial improvements in magnetic resonance imaging (MRI) outcomes (<i>p</i> &#x3c; 0.001). Health-related quality of life scores improved significantly between baseline and 24-month visit (<i>p</i> &#x3c; 0.001). No serious adverse events occurred. <b><i>Conclusion:</i></b> In our cohort, fingolimod treatment was associated with reduced relapse, MRI activity, and improved EDSS and MSQOLI scores. Additionally, fingolimod has been able to maintain its effectiveness over a considerable long period of treatment.

Liver transplantation for Wilson???s disease: long-term results and quality-of-life assessment

2003 ◽  
pp. 1003-1006 ◽  
Author(s):  
Robert P. Sutcliffe ◽  
Donal D. Maguire ◽  
Paolo Muiesan ◽  
Anil Dhawan ◽  
Giorgina Mieli-Vergani ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Liver Transplantation ◽  
Life Assessment ◽  
Long Term Results ◽  
Quality Of Life Assessment

scholarly journals Does long-term GH replacement therapy in hypopituitary adults with GH deficiency normalise quality of life?

2006 ◽  
Vol 155 (1) ◽  
pp. 109-119 ◽  
Author(s):  
Maria Koltowska-Häggström ◽  
Anders F Mattsson ◽  
John P Monson ◽  
Paul Kind ◽  
Xavier Badia ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Gh Deficiency ◽  
Disease Onset ◽  
Life Assessment ◽  
Hormone Deficiency ◽  
Gh Replacement ◽  
Country Specific

Objective: To determine whether impaired quality of life (QoL) in adults with GH deficiency (GHD) is reversible with long-term GH therapy and whether the responses in QoL dimensions differ from each other. Methods: QoL was measured by the Quality of Life–Assessment for Growth Hormone Deficiency in Adults (QoL-AGHDA) in general population samples in England & Wales, The Netherlands, Spain and Sweden (n = 892, 1038, 868 and 1682 respectively) and compared with corresponding patients’ data from KIMS (Pfizer International Metabolic Database) (n = 758, 247, 197 and 484 respectively) for 4–6 years a follow-up. The subsets of patients from England and Wales, and Sweden with longitudinal data for 5 years’ follow-up were also analysed. The change of the total QoL-AGHDA scores and responses within dimensions were evaluated. Subanalyses were performed to identify any specificity in response pattern for gender, age, disease-onset and aetiology. Results: Irrespective of the degree of impairment, overall QoL improved dramatically in the first 12 months, with steady progress thereafter towards the country-specific population mean. Problems with memory and tiredness were the most serious burden for untreated patients, followed by tenseness, self-confidence and problems with socialising. With treatment, these improved in the reverse order, normalising for the latter three. Conclusions: Long-term GH replacement results in sustained improvements towards the normative country-specific values in overall QoL and in most impaired dimensions. The lasting improvement and almost identical pattern of response in each patient subgroup and independent of the level of QoL impairment support the hypothesis that GHD may cause these patients’ psychological problems.

Long-Term Quality of Life Assessment in Patients With Auricular Prostheses

2013 ◽  
Vol 24 (2) ◽  
pp. 392-397 ◽  
Author(s):  
Hanneke Kievit ◽  
Godelieve W.J.A. Verhage-Damen ◽  
Koen J. Ingels ◽  
Emmanuel A.M. Mylanus ◽  
Myrthe K.S. Hol
Keyword(s):  
Quality Of Life ◽  
Life Assessment ◽  
Quality Of Life Assessment
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