A comparative study of cognitive and behavioral profiles between sporadic and type 8 amyotrophic lateral sclerosis.

INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) type 8 (ALS8) is caused by VAPB gene mutations. The differences between neuropsychological and behavioral profiles of patients with sporadic ALS (sALS) and those with ALS8 are unclear. We aimed to compare cognitive performance and behavioral aspects between sALS and ALS8 patients. METHODS: Our study included 29 symptomatic ALS8 patients (17 men; median age 49 years), 20 sALS patients (12 men; median age 55 years), and 30 healthy controls (16 men; median age 50 years), matched for sex, age, and education. Participants underwent neuropsychological assessments focused on executive functions, visual memory, and facial emotion recognition. Behavioral and psychiatric symptoms were evaluated using the Hospital Anxiety and Depression Scale and the Cambridge Behavioral Inventory. RESULTS: Clinical groups (sALS and ALS8) exhibited lower global cognitive efficiency and impaired cognitive flexibility, processing speed, and inhibitory control compared with controls. ALS8 and sALS showed similar performance in most executive tests, except for poorer verbal (lexical) fluency in those with sALS. Apathy, anxiety, and stereotypical behaviors were frequent in both clinical groups. DISCUSSION: sALS and ALS8 patients demonstrated similar deficits in most cognitive domains and had comparable behavioral profiles. These findings should be considered in the care of patients.

Quality of life, disability, and clinical variables in amyotrophic lateral sclerosis.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a motor neuron disease that results in a progressive increase in dysfunctions, limitations and restrictions over time, which can impact on quality of life (QoL). Therefore, expanding knowledge on QoL and possible factors associated with ALS can enable the development of actions to ensure greater wellbeing for the population. OBJECTIVE: To investigate QoL in ALS and determine associations with demographic, functional and clinical aspects. METHODS: Forty-five individuals with ALS (56.4±11.1 years) participated in the study. Demographic, clinical and functional aspects were investigated. Functioning and QoL were assessed using disease-specific tools (ALS Functional Ranting Scale-Revised/ALSFRS-R and ALS Assessment Questionnaire/ALSAQ-40). Fatigue was assessed using the Fatigue Severity Scale. Descriptive, correlation and stepwise multiple linear regression analyses were performed with the aid of the SPSS. RESULTS: The mean ALSAQ-40 score was 279.0±118.3. QoL was significantly worse among women (p=0.001) and poor QoL was associated with the inability to walk (p=0.014), pain (p=0.021) and disease severity (p≤0.002). QoL was strongly correlated with the ALSFRS-R score (r=-0.82). Moderate to weak correlations were found for mobility [turning in bed (r=-0.62), locomotion (r=-0.33) and sit to stand (r=-0.40)], strength (r=-0.49), fatigue (r=0.35) and pain (r=-0.32) (p<0.03). The regression analysis revealed that the ALSFRS-R score (ß=-0.76; p=0.00) and fatigue (ß=0.20; p=0.04) were predictors of QoL. CONCLUSIONS: QoL was worse in women, older people, severe stages of ALS, patients with impaired mobility, those with a poorer physical performance and those who reported pain. Functional status and fatigue are predictors of QoL in ALS.

Fatigue in amyotrophic lateral sclerosis and correlated factors.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that leads to muscle weakness and paralysis. Fatigue is a disabling symptom, frequently reported in ALS, but remains under-investigated in this population. Thus, an accurate investigation of this symptom and possible associated factors in this clinical condition is needed to assist in the establishment of an adequate treatment approach. OBJECTIVE: To investigate the presence of fatigue in individuals with ALS and possible factors correlated with this symptom. METHODS: Sixty-five individuals with sporadic ALS participated in the present study. Demographic, clinical, and functional aspects were investigated. Evaluations involved the Fatigue Severity Scale (FSS), ALS Functional Scale (ALSRFS-R), and Quality of Life (QoL) questionnaire (ALSAQ-40). Descriptive and correlation analyses were performed with SPSS statistical program for Windows version 19.0 (IBM Corp., Armonk, NY, USA). RESULTS: Among the 65 individuals evaluated, 44.6% (n = 29) presented fatigue based on the FSS. The mean fatigue intensity was 5.4 ± 1.2 and only 10.4% used a specific medication for fatigue. Differences between the groups with and without fatigue were found regarding sex (p = 0.049), pain intensity (p = 0.026), functioning (p = 0.004), disease severity (p = 0.029), and QoL (p = 0.000). Fatigue was correlated with pain intensity (r = 0.425; p = 0.001), muscle strength (r = - 0.356; p = 0.004), functioning (r = - 0.363; p = 0.003), and QoL (r = 0.481; p = 0.000). No correlations were found with age, time since diagnosis, cramps, or other mobility parameters. CONCLUSIONS: Fatigue is a common symptom among individuals with ALS and may be present in all stages of the disease. This symptom was correlated with worse functioning, poorer QoL, greater pain intensity, disease severity, muscle weakness, and the female sex in individuals with ALS.

ANTECEDENTES: Esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa fatal que leva à fraqueza muscular e paralisia. Fadiga é um sintoma incapacitante, frequentemente relatado na ELA, mas permanece pouco investigado nessa população. Assim, uma investigação acurada deste sintoma e dos possíveis fatores associados é necessária para auxiliar em uma abordagem terapêutica adequada. OBJETIVO: Investigar a presença de fadiga em indivíduos com ELA e possíveis fatores correlacionados a este sintoma. MéTODOS: Participaram 65 indivíduos com ELA esporádica. Aspectos demográficos, clínicos e funcionais foram investigados. Foram utilizadas: Escala de Severidade de Fadiga (FSS, na sigla em inglês), Escala Funcional de ELA (ALSRFS-R, na sigla em inglês) e questionário de Qualidade de Vida (QV) (ALSAQ-40, na sigla em inglês). Análises descritivas e de correlação foram realizadas no programa SPSS para Windows versão 19.0 (IBM Corp., Armonk, NY, USA). RESULTADOS: Dos 65 indivíduos avaliados, 44,6% (n = 29) apresentaram fadiga pela FSS. A intensidade da fadiga foi 5,4 ± 1,2 e apenas 10,4% usavam medicamento específico para fadiga. Diferenças entre os grupos com e sem fadiga foram encontradas em relação ao sexo (p = 0,049), intensidade da dor (p = 0,026), funcionalidade (p = 0,004), gravidade da doença (p = 0,029) e QV (p = 0,000). A fadiga foi correlacionada com a intensidade da dor (r = 0,425; p = 0,001), força muscular (r = - 0,356; p = 0,004), funcionalidade (r = - 0,363; p = 0,003) e QV (r = 0,481; p = 0,000). Não foram encontradas correlações com idade, tempo de diagnóstico, cãibras ou outros parâmetros de mobilidade. CONCLUSõES: A fadiga é um sintoma comum entre os indivíduos com ELA e pode estar presente em todos os estágios da doença. Este sintoma estava correlacionado à pior funcionalidade, pior QV, gravidade, intensidade da dor, fraqueza muscular e sexo feminino em indivíduos com ELA.

Fatigue in amyotrophic lateral sclerosis and correlated factors / Fadiga na esclerose lateral amiotrófica e fatores correlacionados

Abstract Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that leads to muscle weakness and paralysis. Fatigue is a disabling symptom, frequently reported in ALS, but remains under-investigated in this population. Thus, an accurate investigation of this symptom and possible associated factors in this clinical condition is needed to assist in the establishment of an adequate treatment approach. Objective To investigate the presence of fatigue in individuals with ALS and possible factors correlated with this symptom. Methods Sixty-five individuals with sporadic ALS participated in the present study. Demographic, clinical, and functional aspects were investigated. Evaluations involved the Fatigue Severity Scale (FSS), ALS Functional Scale (ALSRFS-R), and Quality of Life (QoL) questionnaire (ALSAQ-40). Descriptive and correlation analyses were performed with SPSS statistical program for Windows version 19.0 (IBM Corp., Armonk, NY, USA). Results Among the 65 individuals evaluated, 44.6% (n = 29) presented fatigue based on the FSS. The mean fatigue intensity was 5.4 ± 1.2 and only 10.4% used a specific medication for fatigue. Differences between the groups with and without fatigue were found regarding sex (p = 0.049), pain intensity (p = 0.026), functioning (p = 0.004), disease severity (p = 0.029), and QoL (p = 0.000). Fatigue was correlated with pain intensity (r = 0.425; p = 0.001), muscle strength (r = - 0.356; p = 0.004), functioning (r = - 0.363; p = 0.003), and QoL (r = 0.481; p = 0.000). No correlations were found with age, time since diagnosis, cramps, or other mobility parameters. Conclusions Fatigue is a common symptom among individuals with ALS and may be present in all stages of the disease. This symptom was correlated with worse functioning, poorer QoL, greater pain intensity, disease severity, muscle weakness, and the female sex in individuals with ALS.

Resumo Antecedentes Esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa fatal que leva à fraqueza muscular e paralisia. Fadiga é um sintoma incapacitante, frequentemente relatado na ELA, mas permanece pouco investigado nessa população. Assim, uma investigação acurada deste sintoma e dos possíveis fatores associados é necessária para auxiliar em uma abordagem terapêutica adequada. Objetivo Investigar a presença de fadiga em indivíduos com ELA e possíveis fatores correlacionados a este sintoma. Métodos Participaram 65 indivíduos com ELA esporádica. Aspectos demográficos, clínicos e funcionais foram investigados. Foram utilizadas: Escala de Severidade de Fadiga (FSS, na sigla em inglês), Escala Funcional de ELA (ALSRFS-R, na sigla em inglês) e questionário de Qualidade de Vida (QV) (ALSAQ-40, na sigla em inglês). Análises descritivas e de correlação foram realizadas no programa SPSS para Windows versão 19.0 (IBM Corp., Armonk, NY, USA). Resultados Dos 65 indivíduos avaliados, 44,6% (n = 29) apresentaram fadiga pela FSS. A intensidade da fadiga foi 5,4 ± 1,2 e apenas 10,4% usavam medicamento específico para fadiga. Diferenças entre os grupos com e sem fadiga foram encontradas em relação ao sexo (p = 0,049), intensidade da dor (p = 0,026), funcionalidade (p = 0,004), gravidade da doença (p = 0,029) e QV (p = 0,000). A fadiga foi correlacionada com a intensidade da dor (r = 0,425; p = 0,001), força muscular (r = - 0,356; p = 0,004), funcionalidade (r = - 0,363; p = 0,003) e QV (r = 0,481; p = 0,000). Não foram encontradas correlações com idade, tempo de diagnóstico, cãibras ou outros parâmetros de mobilidade. Conclusões A fadiga é um sintoma comum entre os indivíduos com ELA e pode estar presente em todos os estágios da doença. Este sintoma estava correlacionado à pior funcionalidade, pior QV, gravidade, intensidade da dor, fraqueza muscular e sexo feminino em indivíduos com ELA.

Brazilian cross-cultural translation and adaptation of the "Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items".

OBJECTIVE: To translate and to perform the cross-cultural adaptation of the "Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items" (MG-QOL15). METHOD: The original English version of the questionnaire was translated into Portuguese. This version was revised and translated back into English. Later, both English versions were compared and the divergences were corrected in the Portuguese text. At a second stage, ten patients with MG followed at the Neuromuscular Diseases Clinic from the University Hospital, Universidade Federal de Minas Gerais answered the questionnaire. The authors analyzed the difficulties and misunderstandings in the application of the questionnaire. RESULTS: The questions 8, 13 and 15 were considered difficult to understand and were modified in the final Portuguese version. Most patients (70%) had a total score above 25, and the statements 3, 8 and 9 showed the highest scores. CONCLUSION: The Brazilian version of the questionnaire MG-QOL15 seems to be a promising tool for the assessment of Brazilian patients with MG.

Cognitive impairment in migraine: A systematic review.

Patients with migraine often report cognitive complaints, especially regarding attention and memory. OBJECTIVE: To perform a systematic review of the studies available on cognitive evaluation in patients with migraine. METHODS: We evaluated all articles containing the key words: "Migraine", "Cognition" and "Cognitive Impairment." RESULTS: The search strategy resulted in 23 articles. Fifteen out of the 23 studies (65.3%) retrieved reported abnormalities on neuropsychological tests in migraine patients, notably tests of memory, attention and information processing speed. Most of the studies showing cognitive changes in migraine were carried out in neurological care facilities. Conversely, among community-based studies, migraine patients were less likely to present cognitive changes. CONCLUSION: Patients with migraine, especially those followed at neurology clinics, show an elevated risk of mild changes in several cognitive domains. Further studies with greater methodological refinement are warranted in order to clearly establish whether this cognitive dysfunction is associated with an underlying migraine pathophysiological process.

Pacientes com migrânea frequentemente se queixam de problemas cognitivos, sobretudo relacionados à memória e à atenção. OBJETIVO: Realizar uma revisão sistemática sobre os estudos com avaliação cognitiva em pacientes com migrânea. MÉTODOS: Foram avaliados todos os artigos que incluíram as palavras-chave "Migraine", "Cognition" and "Cognitive Impairment". RESULTADOS: Foram encontrados 23 artigos que estudaram desempenho cognitivo em pacientes com migrânea. Dentre estes, quinze (65,3%) relataram alterações em testes neuropsicológicos em pacientes com migrânea, notadamente em testes de memória, atenção e velocidade de processamento. A maioria dos trabalhos que mostraram alterações cognitivas na migrânea foi realizada em serviços neurológicos. Por outro lado, nos estudos de base populacional, essas alterações eram menos comuns. CONCLUSÃO: Pacientes com migrânea, especialmente os acompanhados em serviços neurológicos, apresentam risco aumentado de comprometimento leve em diferentes domínios cognitivos. Estudos com maior refinamento metodológico são necessários para definir claramente se essas alterações cognitivas estão associadas a processo fisiopatológico subjacente à migrânea.

Brazilian cross-cultural translation and adaptation of the "Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items" / Traducao e adaptacao transcultural do "Questionario de Qualidade de Vida Especifico para Miastenia Gravis 15 itens" para o Brasil

Objective To translate and to perform the cross-cultural adaptation of the “Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items” (MG-QOL15). Method The original English version of the questionnaire was translated into Portuguese. This version was revised and translated back into English. Later, both English versions were compared and the divergences were corrected in the Portuguese text. At a second stage, ten patients with MG followed at the Neuromuscular Diseases Clinic from the University Hospital, Universidade Federal de Minas Gerais answered the questionnaire. The authors analyzed the difficulties and misunderstandings in the application of the questionnaire. Results The questions 8, 13 and 15 were considered difficult to understand and were modified in the final Portuguese version. Most patients (70%) had a total score above 25, and the statements 3, 8 and 9 showed the highest scores. Conclusion The Brazilian version of the questionnaire MG-QOL15 seems to be a promising tool for the assessment of Brazilian patients with MG. .

Objetivo Realizar a tradução e a adaptação transcultural do “Questionário de Qualidade de Vida Específico para Miastenia Gravis – 15 itens” (MG-QOL15). Método Inicialmente, foi realizada a tradução do instrumento original em inglês para o português. Esta versão foi revisada e retrotraduzida para o inglês. A versão retrotraduzida foi comparada à versão original em inglês, sendo corrigidas as divergências no texto em português. Em um segundo momento, dez pacientes com MG acompanhados na Clínica de Doenças Neuromusculares do Hospital das Clínicas da Universidade Federal de Minas Gerais responderam ao questionário. Na aplicação do questionário, os itens mal compreendidos foram analisados pelos autores. Resultados Os itens 8, 13 e 15 foram considerados de difícil compreensão e modificados na versão final em português. A maioria dos pacientes (70%) apresentou uma pontuação total superior a 25, sendo que os itens 3, 8 e 9 apresentaram os escores mais elevados. Conclusão A versão brasileira do MG-QOL15 é um instrumento promissor para a avaliação de pacientes brasileiros com MG. .

Cognitive impairment in migraine: a systematic review / Alterações cognitivas migrânea: uma revisão sistemática

Patients with migraine of ten report cognitive complaints, especially regarding attention and memory. Objective:To perform a systematic review of the studies available on cognitive evaluation in patients with migraine. Methods: Weevaluated all articles containing the key words: Migraine, Cognition and Cognitive Impairment. Results: The searchstrategy resulted in 23 articles. Fifteen out of the 23 studies (65.3%) retrieved reported abnormalities on neuropsychologicaltests in migraine patients, notably tests of memory, attention and information processing speed. Most of the studies showingcognitive changes in migraine were carried out in neurological care facilities. Conversely, among community-based studies,migraine patients were less likely to present cognitive changes. Conclusion: Patients with migraine, especially those followedat neurology clinics, show an elevated risk of mild changes in several cognitive domains. Further studies with greatermethodological refinement are warranted in order to clearly establish whether this cognitive dysfunction is associated withan underlying migraine pathophysiological process.

Pacientes com migrânea frequentemente se queixam de problemas cognitivos, sobretudo relacionados à memóriae à atenção. Objetivo: Realizar uma revisão sistemática sobre os estudos com avaliação cognitiva em pacientes commigrânea. Métodos: Foram avaliados todos os artigos que incluíram as palavras-chave Migraine, Cognition and Cognitive Impairment. Resultados: Foram encontrados 23 artigos que estudaram desempenho cognitivo em pacientescom migrânea. Dentre estes, quinze (65,3%) relataram alterações em testes neuropsicológicos em pacientes com migrânea,notadamente em testes de memória, atenção e velocidade de processamento. A maioria dos trabalhos que mostraramalterações cognitivas na migrânea foi realizada em serviços neurológicos. Por outro lado, nos estudos de base populacional,essas alterações eram menos comuns. Conclusão: Pacientes com migrânea, especialmente os acompanhados em serviçosneurológicos, apresentam risco aumentado de comprometimento leve em diferentes domínios cognitivos. Estudos commaior refinamento metodológico são necessários para definir claramente se essas alterações cognitivas estão associadasa processo fisiopatológico subjacente à migrânea.