Did the speech of patients with Myasthenia Gravis decline over 4 years? / Há declínio na fala de pacientes com Miastenia Gravis ao longo de 4 anos?

ABSTRACT Purpose To compare the speech and voice patterns of myasthenia gravis (MG) patients over four years, and correlate the results with clinical aspects of the disease. Methods Data was collected for 4 years. The clinical assessment tools included the Quantitative Myasthenia Gravis (QMG) score, the Myasthenia Gravis Foundation of America (MGFA) clinical classification, and the Myasthenia Gravis Quality of Life 15-item Scale (MG-QoL). To assess speech, the recorded speaking tasks were analyzed acoustically and given auditory-perceptual ratings. Sex (equal distribution) and age (p=0.949) were used as matching criteria in the final sample, which consisted of 10 individuals in the MG group (MGG) and 10 individuals in the control group (CG). Results After 4 years, the MG participants presented stable health status, increased mild and moderate dysarthria (from 40% to 90% of the subjects), and a significant deterioration in the respiration, phonation, and articulation subsystems. The acoustic analysis showed a decline in articulatory patterns (speech rate p=0.047, articulation rate p=0.007, mean syllable duration p=0.007) and vocal quality (increased jitter p=0.022). In the follow-up comparison, there was a significant difference between the phonation variables (shimmer and harmonic-to-noise ratio) of the MGG and CG. Conclusion The MG patients presented a decline in speech over four years and an increase in mild and moderate dysarthria. Despite presenting stable health status, their respiratory, phonatory, and articulatory subsystems worsened. There was no correlation between speech patterns and clinical characteristics of the disease (severity and motor scale).

RESUMO Objetivo Comparar o padrão de fala e voz de indivíduos com Miastenia Gravis (MG) em um intervalo de quatro anos e correlacionar com aspectos clínicos da doença. Método A coleta de dados foi realizada ao longo de 4 anos. A avaliação clínica foi composta pelo Quantitative Myasthenia Gravis Score (QMGS), pela Myasthenia Gravis Foundation of America Classification (MGFA) e pela escala de qualidade de vida para Miastenia Gravis (MG-QOL). A avaliação da fala foi composta por gravação de tarefas, análise perceptivo-auditiva e análise acústica. A amostra final foi composta por 10 indivíduos em MG e 10 indivíduos no grupo controle (GC), pareados por sexo (distribuição igualitária) e idade (p=0,949). Resultados Após 4 anos, os indivíduos com MG apresentaram estabilidade clínica, aumento do diagnóstico de disartria leve e moderada (de 40% para 90% dos sujeitos) e diminuição significativa no desempenho dos subsistemas da fala: respiração, fonação e articulação. Na análise acústica, houve declínio do padrão articulatório (taxa de fala p=0,047, taxa de articulação p=0,007, duração média das sílabas p=0,007) e qualidade vocal (jitter aumentado p=0,022). Houve diferença significativa nas variáveis fonatórias (shimmer e harmonic-to-noise ratio) entre os grupos MG e GC na comparação do seguimento. Conclusão Indivíduos com MG apresentaram declínio no padrão de fala em um intervalo de quatro anos, com aumento no número de disártricos (leve e moderado). Mesmo com a estabilidade da doença, houve piora dos subsistemas respiratório, fonatório e articulatório. Não houve correlação entre o padrão de fala e as características clínicas da doença (gravidade e escala motora).

Floor and ceiling effects on the Montreal Cognitive Assessment in patients with Parkinson's disease in Brazil.

Parkinson's disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects. Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil. Methods: Cross-sectional study with data from patients with PD from five Brazilian Movement Disorders Clinics, excluding individuals with a possible diagnosis of dementia. We analyzed the total score of the MoCA, as well as its seven cognitive domains. The floor and ceiling effects were evaluated for the total MoCA score and domains. Multivariate analyses were performed to detect factors associated with floor and ceiling effects. Results: We evaluated data from 366 patients with PD and approximately 19% of individuals had less than five years of education. For the total MoCA score, there was no floor or ceiling effect. There was a floor effect in the abstraction and delayed memory recall domains in 20% of our sample. The ceiling effect was demonstrated in all domains (80.8% more common in naming and 89% orientation), except delayed recall. Education was the main factor associated with the floor and ceiling effects, independent of region, sex, age at evaluation, and disease duration. Conclusion: The floor and ceiling effects are present in specific domains of the MoCA in Brazil, with a strong impact on education. Further adaptations of the MoCA structure for underrepresented populations may reduce these negative effects.

A doença de Parkinson (DP) é uma doença neurodegenerativa comum associada ao declínio cognitivo. A Avaliação Cognitiva de Montreal (Montreal Cognitive Assessment ­ MoCA) tem sido usada como uma escala de cognição global recomendada para pacientes com DP, mas existem algumas preocupações sobre sua aplicação, em parte pelos efeitos solo e teto. Objetivo: Explorar os efeitos solo e teto na MoCA em pacientes com DP no Brasil. Métodos: Estudo transversal com dados de pacientes com DP oriundos de cinco Clínicas de Distúrbios de Movimento no Brasil, excluindo-se pessoas com possível diagnóstico de demência. Nós analisamos a pontuação total da MoCA, assim como a de seus sete domínios cognitivos. Os efeitos solo e teto foram avaliados para a pontuação total da MoCA e seus domínios. Foram feitas análises multivariadas para a detecção de fatores associados os efeitos solo e teto. Resultados: Nós avaliamos dados de 366 pacientes com DP, e aproximadamente 19% das pessoas tinham menos que cinco anos de escolaridade. Para a pontuação total do MoCA, não houve efeito solo ou teto. Houve efeito solo nos domínios abstração e memória de evocação tardia em 20% de nossa amostra. O efeito teto foi demonstrado em todos os domínios (80,8% mais comum em nomeação e 89% orientação), com exceção de memória de evocação tardia. A educação foi o principal fator associado aos efeitos solo e teto, independentemente de região, sexo, idade na avaliação e duração da doença. Conclusão: Os efeitos solo e teto estão presentes em domínios específicos da MoCA no Brasil, com forte impacto da educação. Adaptações adicionais à estrutura da MoCA para populações vulneráveis podem reduzir esses efeitos negativos.

Caregiver burden related to feeding process in Alzheimer's disease.

Difficulties in the feeding process, such as aversive feeding behaviors and dysphagia, are common in patients with Alzheimer's disease (AD) and can often overload their caregivers. Although dysphagia is already established as a factor contributing to caregiver burden, the impact of aversive behaviors is less studied. Objectives: Evaluate the relationship between the feeding process in individuals with AD and their caregiver's burden. Methods: Dyads of individuals with AD and their caregivers were recruited for a cross-sectional study. The Edinburgh Feeding Evaluation in Dementia (EdFED) scale, the Zarit Burden Interview (ZBI), the mini-mental state examination (MMSE), the Functional Activities Questionnaire (FAQ), and the Functional Oral Intake scale (FOIS) were performed. Results: We included 60 AD individuals-caregivers dyads. The median (IQR) age of caregivers was 57 (19-81) years, and the most were females (70%). The individuals with AD had a median MMSE of 12 (6-15), and the disease duration was 4 (2-6) years. The mean (SD) Zarit score was 20.95 (6.51). In the multivariate linear regression, the EdFED score (95% CI 0.368-1.465) and time as a caregiver (95% CI 0.133-1.355) were associated with the caregiver's burden. Conclusions: Aversive behaviors were associated with the caregiver burden of individuals with AD, even with a short duration of the disease. These findings show the importance of education for caregivers regarding the feeding process, as these measures have great potential to minimize the caregiver's burden.

Dificuldades no processo de alimentação, como comportamentos alimentares aversivos e disfagia, são comuns em indivíduos com doença de Alzheimer (DA) e muitas vezes podem sobrecarregar seus cuidadores. Embora a disfagia já esteja estabelecida como um fator que contribui para a sobrecarga do cuidador, o impacto dos comportamentos aversivos é menos estudado. Objetivos: Avaliar a relação entre o processo de alimentação em indivíduos com DA e a sobrecarga de seus cuidadores. Métodos: Díades de indivíduos com DA e seus cuidadores foram recrutados para um estudo transversal. Os protocolos Edinburgh Feeding Evaluation in Dementia Scale (EdFED), Zarit Burden Interview (ZBI), Mini-Mental State Examination (MMSE), Functional Activities Questionnaire (FAQ) e Functional Oral Intake Scale (FOIS) foram realizados. Resultados: Incluímos 60 díades de cuidadores-indivíduos com DA. A idade mediana (intervalo interquartil ­ IQR) dos cuidadores foi de 57 (19­81) anos e a maioria era do sexo feminino (70%). A mediana do MMSE dos indivíduos com DA foi de 12 (6­15) e o tempo de doença foi de quatro (2­6) anos. A pontuação média do Zarit foi de 20,95 (6,51). Na regressão logística multivariada, o escore EdFED (intervalo de confiança de 95% ­ IC95% 0,368­1,465) e o tempo como cuidador (IC95% 0,133­1,355) foram associados à sobrecarga deste. Conclusões: Comportamentos aversivos foram associados à sobrecarga do cuidador de indivíduos com DA, mesmo com pouco tempo de doença. Esses achados mostram a importância da educação dos cuidadores quanto ao processo de alimentação, pois essas medidas têm grande potencial para minimizar sua sobrecarga.

Articulatory speech measures can be related to the severity of multiple sclerosis.

Background: Dysarthria is one of the most frequent communication disorders in patients with Multiple Sclerosis (MS), with an estimated prevalence of around 50%. However, it is unclear if there is a relationship between dysarthria and the severity or duration of the disease. Objective: Describe the speech pattern in MS, correlate with clinical data, and compare with controls. Methods: A group of MS patients (n = 73) matched to healthy controls (n = 37) by sex and age. Individuals with neurological and/or systemic conditions that could interfere with speech were excluded. MS group clinical data were obtained through the analysis of medical records. The speech assessment consisted of auditory-perceptual and speech acoustic analysis, from recording the following speech tasks: phonation and breathing (sustained vowel/a/); prosody (sentences with different intonation patterns) and articulation (diadochokinesis; spontaneous speech; diphthong/iu/repeatedly). Results: In MS, 72.6% of the individuals presented mild dysarthria, with alterations in speech subsystems: phonation, breathing, resonance, and articulation. In the acoustic analysis, individuals with MS were significantly worse than the control group (CG) in the variables: standard deviation of the fundamental frequency (p = 0.001) and maximum phonation time (p = 0.041). In diadochokinesis, individuals with MS had a lower number of syllables, duration, and phonation time, but larger pauses per seconds, and in spontaneous speech, a high number of pauses were evidenced as compared to CG. Correlations were found between phonation time in spontaneous speech and the Expanded Disability Status Scale (EDSS) (r = - 0.238, p = 0.043) and phonation ratio in spontaneous speech and EDSS (r = -0.265, p = 0.023), which indicates a correlation between the number of pauses during spontaneous speech and the severity of the disease. Conclusion: The speech profile in MS patients was mild dysarthria, with a decline in the phonatory, respiratory, resonant, and articulatory subsystems of speech, respectively, in order of prevalence. The increased number of pauses during speech and lower rates of phonation ratio can reflect the severity of MS.

Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3.

Background: The basal ganglia and cerebellum both have a role in speech production although the effect of isolated involvement of these structures on speech fluency remains unclear. Objective: The study aimed to assess the differences in the articulatory pattern in patients with cerebellar vs. basal ganglia disorders. Methods: A total of 20 individuals with Parkinson's disease (PD), 20 with spinocerebellar ataxia type 3 (SCA3), and 40 controls (control group, CG) were included. Diadochokinesis (DDK) and monolog tasks were collected. Results: The only variable that distinguished SCA3 carriers from the CG was the number of syllables in the monolog, with SCA3 patients of a significantly lower number. For patients with PD, the number of syllables, phonation time, DDK, and monolog were significantly lower than for CG. Patients with PD were significantly worse compared to patients with SCA3 in the number of syllables and phonation time in DDK, and phonation time in monolog. Additionally, there was a significant correlation between the number of syllables in the monolog and the MDS-UPDRS III for participants with PD, and the Friedreich Ataxia Rating Scale for participants with SCA3 suggesting a relationship between speech and general motor functioning. Conclusion: The monolog task is better at discriminating individuals with cerebellar vs. Parkinson's diseases as well as differentiating healthy control and was related to the severity of the disease.

Dysarthria in hereditary spastic paraplegia type 4.

OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. METHODS: Cross-sectional study was carried out in two university hospitals in Brazil. Two groups participated in the study: the case group (n = 28) with a confirmed genetic diagnosis for SPG4 and a control group (n = 17) matched for sex and age. The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-perceptual analysis. In addition, disease severity was assessed with the Spastic Paraplegia Rating Scale (SPRS). RESULTS: In the auditory-perceptual analysis, 53.5% (n = 15) of individuals with SPG4 were dysarthric, with mild to moderate changes in the subsystems of phonation and articulation. On acoustic analysis, SPG4 subjects' performances were worse in measurements related to breathing (maximum phonation time) and articulation (speech rate, articulation rate). The articulation variables (speech rate, articulation rate) are related to the age of onset of the first motor symptom. CONCLUSION: Dysarthria in SPG4 is frequent and mild, and it did not evolve in conjunction with more advanced motor diseases. This data suggest that diagnosed patients should be screened and referred for speech therapy evaluation and those pathophysiological mechanisms of speech involvement may differ from the length-dependent degeneration of the corticospinal tract.

Caregiver burden related to feeding process in Alzheimer's disease / Sobrecarga do cuidador relacionada ao processo de alimentação na doença de Alzheimer

ABSTRACT Difficulties in the feeding process, such as aversive feeding behaviors and dysphagia, are common in patients with Alzheimer's disease (AD) and can often overload their caregivers. Although dysphagia is already established as a factor contributing to caregiver burden, the impact of aversive behaviors is less studied. Objectives: Evaluate the relationship between the feeding process in individuals with AD and their caregiver's burden. Methods: Dyads of individuals with AD and their caregivers were recruited for a cross-sectional study. The Edinburgh Feeding Evaluation in Dementia (EdFED) scale, the Zarit Burden Interview (ZBI), the mini-mental state examination (MMSE), the Functional Activities Questionnaire (FAQ), and the Functional Oral Intake scale (FOIS) were performed. Results: We included 60 AD individuals-caregivers dyads. The median (IQR) age of caregivers was 57 (19-81) years, and the most were females (70%). The individuals with AD had a median MMSE of 12 (6-15), and the disease duration was 4 (2-6) years. The mean (SD) Zarit score was 20.95 (6.51). In the multivariate linear regression, the EdFED score (95% CI 0.368-1.465) and time as a caregiver (95% CI 0.133-1.355) were associated with the caregiver's burden. Conclusions: Aversive behaviors were associated with the caregiver burden of individuals with AD, even with a short duration of the disease. These findings show the importance of education for caregivers regarding the feeding process, as these measures have great potential to minimize the caregiver's burden.

RESUMO Dificuldades no processo de alimentação, como comportamentos alimentares aversivos e disfagia, são comuns em indivíduos com doença de Alzheimer (DA) e muitas vezes podem sobrecarregar seus cuidadores. Embora a disfagia já esteja estabelecida como um fator que contribui para a sobrecarga do cuidador, o impacto dos comportamentos aversivos é menos estudado. Objetivos: Avaliar a relação entre o processo de alimentação em indivíduos com DA e a sobrecarga de seus cuidadores. Métodos: Díades de indivíduos com DA e seus cuidadores foram recrutados para um estudo transversal. Os protocolos Edinburgh Feeding Evaluation in Dementia Scale (EdFED), Zarit Burden Interview (ZBI), Mini-Mental State Examination (MMSE), Functional Activities Questionnaire (FAQ) e Functional Oral Intake Scale (FOIS) foram realizados. Resultados: Incluímos 60 díades de cuidadores-indivíduos com DA. A idade mediana (intervalo interquartil — IQR) dos cuidadores foi de 57 (19-81) anos e a maioria era do sexo feminino (70%). A mediana do MMSE dos indivíduos com DA foi de 12 (6-15) e o tempo de doença foi de quatro (2-6) anos. A pontuação média do Zarit foi de 20,95 (6,51). Na regressão logística multivariada, o escore EdFED (intervalo de confiança de 95% — IC95% 0,368-1,465) e o tempo como cuidador (IC95% 0,133-1,355) foram associados à sobrecarga deste. Conclusões: Comportamentos aversivos foram associados à sobrecarga do cuidador de indivíduos com DA, mesmo com pouco tempo de doença. Esses achados mostram a importância da educação dos cuidadores quanto ao processo de alimentação, pois essas medidas têm grande potencial para minimizar sua sobrecarga.

Floor and ceiling effects on the Montreal Cognitive Assessment in patients with Parkinson's disease in Brazil / Efeitos solo e teto na Avaliação Cognitiva de Montreal em pacientes com doença de Parkinson no Brasil

ABSTRACT Parkinson's disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects. Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil. Methods: Cross-sectional study with data from patients with PD from five Brazilian Movement Disorders Clinics, excluding individuals with a possible diagnosis of dementia. We analyzed the total score of the MoCA, as well as its seven cognitive domains. The floor and ceiling effects were evaluated for the total MoCA score and domains. Multivariate analyses were performed to detect factors associated with floor and ceiling effects. Results: We evaluated data from 366 patients with PD and approximately 19% of individuals had less than five years of education. For the total MoCA score, there was no floor or ceiling effect. There was a floor effect in the abstraction and delayed memory recall domains in 20% of our sample. The ceiling effect was demonstrated in all domains (80.8% more common in naming and 89% orientation), except delayed recall. Education was the main factor associated with the floor and ceiling effects, independent of region, sex, age at evaluation, and disease duration. Conclusion: The floor and ceiling effects are present in specific domains of the MoCA in Brazil, with a strong impact on education. Further adaptations of the MoCA structure for underrepresented populations may reduce these negative effects.

RESUMO A doença de Parkinson (DP) é uma doença neurodegenerativa comum associada ao declínio cognitivo. A Avaliação Cognitiva de Montreal (Montreal Cognitive Assessment — MoCA) tem sido usada como uma escala de cognição global recomendada para pacientes com DP, mas existem algumas preocupações sobre sua aplicação, em parte pelos efeitos solo e teto. Objetivo: Explorar os efeitos solo e teto na MoCA em pacientes com DP no Brasil. Métodos: Estudo transversal com dados de pacientes com DP oriundos de cinco Clínicas de Distúrbios de Movimento no Brasil, excluindo-se pessoas com possível diagnóstico de demência. Nós analisamos a pontuação total da MoCA, assim como a de seus sete domínios cognitivos. Os efeitos solo e teto foram avaliados para a pontuação total da MoCA e seus domínios. Foram feitas análises multivariadas para a detecção de fatores associados os efeitos solo e teto. Resultados: Nós avaliamos dados de 366 pacientes com DP, e aproximadamente 19% das pessoas tinham menos que cinco anos de escolaridade. Para a pontuação total do MoCA, não houve efeito solo ou teto. Houve efeito solo nos domínios abstração e memória de evocação tardia em 20% de nossa amostra. O efeito teto foi demonstrado em todos os domínios (80,8% mais comum em nomeação e 89% orientação), com exceção de memória de evocação tardia. A educação foi o principal fator associado aos efeitos solo e teto, independentemente de região, sexo, idade na avaliação e duração da doença. Conclusão: Os efeitos solo e teto estão presentes em domínios específicos da MoCA no Brasil, com forte impacto da educação. Adaptações adicionais à estrutura da MoCA para populações vulneráveis podem reduzir esses efeitos negativos.

Dysarthria in hereditary spastic paraplegia type 4

Abstract Objective: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. Methods: Cross-sectional study was carried out in two university hospitals in Brazil. Two groups participated in the study: the case group (n = 28) with a confirmed genetic diagnosis for SPG4 and a control group (n = 17) matched for sex and age. The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-perceptual analysis. In addition, disease severity was assessed with the Spastic Paraplegia Rating Scale (SPRS). Results: In the auditory-perceptual analysis, 53.5% (n = 15) of individuals with SPG4 were dysarthric, with mild to moderate changes in the subsystems of phonation and articulation. On acoustic analysis, SPG4 subjects' performances were worse in measurements related to breathing (maximum phonation time) and articulation (speech rate, articulation rate). The articulation variables (speech rate, articulation rate) are related to the age of onset of the first motor symptom. Conclusion: Dysarthria in SPG4 is frequent and mild, and it did not evolve in conjunction with more advanced motor diseases. This data suggest that diagnosed patients should be screened and referred for speech therapy evaluation and those pathophysiological mechanisms of speech involvement may differ from the length-dependent degeneration of the corticospinal tract.

Relato da experiência da atuação fonoaudiológica em telessaúde em pacientes neurológicos com disfagia e disartria durante a pandemia de Covid-19 / Experience report of speech therapy in telehealth with neurological patients with dysphagia and dysarthria during the Covid-19 pandemic / Reporte de experiencia de desempeño logopédico en telesalud en pacientes neurológicos con disfagia y disartria durante la pandemia de Covid-19

Introdução: Devido à COVID-19, os pacientes com doenças neurológicas deixaram de frequentar presencialmente as consultas fonoaudiológicas em ambulatórios. Objetivo: Descrever o relato da experiência fonoaudiológica em pacientes com doença neurológica com disartria e/ou disfagia durante a pandemia da COVID-19 através da telessaúde. Método: Trata-se de um relato de experiência. Foram incluídos pacientes do ambulatório de fonoaudiologia de um hospital universitário, que ficaram privados do acompanhamento fonoaudiológico em período pandêmico e que tinham diagnóstico de disfagia e/ou disartria (prévios à pandemia). No total, 43 pacientes foram convidados a participar do estudo. Os indivíduos foram separados de acordo com seu diagnóstico fonoaudiológico: disfagia, disartria e disfagia/disartria. No início, todos foram reavaliados em videochamadas: disfagia (Northwestern dysphagia patient check sheet, Escala Funcional de Ingestão Via Oral e Instrumento de Autoavaliação da Alimentação); disartria (coleta de fala e questionário de autopercepção Radbould Oral Inventory Motor for Parkinson's disease). Após, os pacientes foram alocados aleatoriamente: teleatendimento fonoaudiológico por quatro semanas consecutivas, sendo o outro grupo controle, sem intervenções e/ou orientações. Todos foram reavaliados para a comparação pré e pós-acompanhamento fonoaudiológico. Resultados: Nove participantes concluíram todas as etapas do estudo, sendo 6 (66,66%) homens. A média de idade foi de 60,44 anos (±16,13). Os participantes possuíam diagnóstico médico de doença neurológica, sendo 2 neurogenética (22,22%), 5 neurodegenerativa (55,5%) e 2 neurológicas (22,22%). Não foram observadas diferenças descritivas entre os grupos nas avaliações pré e pós-intervenção. A perda na amostra aconteceu devido à falta de dispositivos tecnológicos e à sobrecarga dos cuidadores. Conclusões: A experiência em tele fonoaudiologia, apesar de ter sido positiva, revelou a dificuldade da sua implementação em pacientes neurológicos de baixa condições sócio financeiras e educacional.

Introduction: Due to COVID-19, patients with neurological disease no longer attend face-to-face speech therapy consultations in outpatient clinics. Objective: To describe the report of the speech therapy experience patients with neurological disease with dysarthria and/or dysphagia during the COVID-19 pandemic through telehealth. Method: This is an experience report. Patients from the speech therapy outpatient clinic of a university hospital who were deprived of speech therapy during a pandemic period and had a diagnosis of dysphagia and/or dysarthria (prior to the pandemic) were included. In total, 43 patients were invited to participate in the study. Individuals were separated according to their speech-language diagnosis: dysphagia, dysarthria, and dysphagia/dysarthria. In the beginning, all were reassessed in video calls: dysphagia (Northwestern dysphagia patient check sheet, Functional Oral Intake Scale, and Food Self-Assessment Instrument); dysarthria (speech collection and self-perception questionnaire Radbould Oral Motor Inventory for Parkinson's disease). Afterward, the patients were randomly allocated: speech therapy telecare for four consecutive weeks, with the other being a control group, without interventions and/or guidance. All were reassessed for comparison before and after speech therapy follow-up. Results:Nine participants completed all stages of the study, 6 (66.66%) men. The mean age was 60.44 years (±16.13). Participants had a medical diagnosis of neurological disease, 2 of which were neurogenetic (22.22%), five neurodegenerative (55.5%), and two neurologic (22.22%). No descriptive differences were observed between groups in pre- and post-intervention assessments. The loss in the sample happened due to the lack of technological devices and the overload of caregivers. Conclusions: The experience in telehealth was positive, revealing the difficulty of its implementation in neurological patients with low socio-financial and educational conditions.

Introducción: Debido al COVID-19, los pacientes con enfermedades neurologicas ya no asisten a consultas de logopedia presenciales en consultas externas. Objetivo: Describir el relato de la experiencia fonoaudiológica en pacientes con enfermedades neurologicas con disartria y/o disfagia durante la pandemia de COVID-19 a través de telesalud. Método: Este es un relato de experiencia. Se incluyeron pacientes de la consulta externa de logopedia de un hospital universitario, que fueron privados de logopedia durante un período de pandemia y que tenían diagnóstico de disfagia y/o disartria (previo a la pandemia). En total, 43 pacientes fueron invitados a participar en el estudio. Los individuos se separaron según su diagnóstico del habla y el lenguaje: disfagia, disartria y disfagia/disartria. Al principio, todos fueron reevaluados en videollamadas: disfagia (Northwestern dysphagia patient check sheet), Escala de ingesta oral funcional e Instrumento de autoevaluación de alimentos); disartria (cuestionario de recogida de voz y autopercepción Radbould Oral Motor Inventory for Parkinson's disease). Posteriormente, los pacientes fueron asignados aleatoriamente: teleasistencia logopédica durante cuatro semanas consecutivas, siendo el otro grupo control, sin intervenciones y/u orientaciones. Todos fueron reevaluados para compararlos antes y después del seguimiento con logopedia. Resultados: Nueve participantes completaron todas las etapas del estudio, 6 (66,66%) hombres. La edad media fue de 60,44 años (±16,13). Los participantes tenían diagnóstico médico de enfermedad neurológica, 2 de ellas neurogenéticas (22,22%), 5 neurodegenerativas (55,5%) y 2 neurológica (22,22%). No se observaron diferencias descriptivas entre los grupos en las evaluaciones previas y posteriores a la intervención. La pérdida en la muestra ocurrió por la falta de dispositivos tecnológicos y la sobrecarga de cuidadores. Conclusiones: La experiencia en telefonoaudiología, a pesar de ser positiva, reveló la dificultad de su implementación en pacientes neurológicos de baja condición socioeconómica y educativa.

Factors associated with frailty in patients with neurodegenerative diseases. / Fatores associados a fragilidade em pacientes com doenças neurodegenerativas.

PURPOSE: To identify the factors associated with frailty in patients with neurodegenerative diseases. METHODS: Cross-sectional study, whose sample consisted of 150 patients diagnosed with neurodegenerative diseases seen at a speech-language therapy clinic in a reference hospital in southern Brazil. A secondary exploratory analysis of the medical records of patients treated at this clinic between April 2016 and May 2019 was performed. The information collected was sex, age, education, type of neurodegenerative disease, time of disease, frailty (Edmonton Frail Scale-EFS), swallowing (Northwestern Dysphagia Patient CheckSheet-NDPCS, Eating Assessment Tool-EAT 10), and cognition (Mini-Mental State Examination-MMSE and Montreal Cognitive Assessment-MoCA). Continuous quantitative variables were analyzed using mean and standard deviation and categorical quantitative variables from absolute and relative frequency, as well as their association with the outcome using the Chi-square test. Crude and adjusted Prevalence Ratios were assessed using Poisson regression with robust variance. All statistical tests were considered significant at a level of 5%. RESULTS: The significant factors associated with frailty were the presence of oropharyngeal dysphagia and altered cognitive performance. Individuals with frailty have a higher prevalence of oropharyngeal dysphagia (PR= 1.772(1.094-2.872)), while cognition alteration presented a lower prevalence (PR= 0.335(0.128-0.873). CONCLUSION: Oropharyngeal dysphagia can be an important clinical predictive factor for consideration in cases of frailty in patients with neurodegenerative diseases.

OBJETIVO: Identificar os fatores associados à fragilidade em pacientes com doenças neurodegenerativas. MÉTODO: Estudo transversal, cuja amostra foi composta por 150 pacientes com diagnóstico de doenças neurodegenerativas atendidos em um ambulatório de Fonoaudiologia de um hospital de referência no sul do Brasil. Foi realizada análise secundária exploratória dos prontuários dos pacientes atendidos neste ambulatório entre o período de abril de 2016 e maio de 2019. As informações coletadas foram: sexo, idade, escolaridade, tipo de doença neurodegenerativa, tempo de doença, fragilidade (Edmonton Frail Scale - EFS), deglutição (Northwestern Dysphagia Patient CheckSheet- NDPCS, Eating Assessment Tool-EAT 10) e cognição (Mini-Mental State Examination-MMSE e Montreal Cognitive Assessment-MoCA). As variáveis quantitativas contínuas foram analisadas a partir de média e desvio padrão e as quantitativas categóricas a partir de frequência absoluta e relativa, assim como analisou-se a associação destas com o desfecho pelo teste Qui-Quadrado. As Razões de Prevalência brutas e ajustadas foram avaliadas a partir da Regressão de Poisson com variância robusta. Todos os testes estatísticos foram considerados significativos a um nível de 5%. RESULTADOS: Os fatores significativos associados à fragilidade foram à presença de disfagia orofaríngea e desempenho cognitivo alterado. Indivíduos com a fragilidade apresentam maior prevalência de disfagia orofaríngea (RP=1,772(1,094-2,872)), enquanto a cognição alterada está associada a menor prevalência de fragilidade (RP=0,335(0,128-0,873). CONCLUSÃO: A disfagia orofaríngea pode ser um importante fator clínico preditivo a ser considerado em casos de fragilidade em pacientes com doenças neurodegenerativas.

Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy / Caracterização da fala e da deglutição em pacientes com distrofia muscular facioescapuloumeral

ABSTRACT Background: Although facial muscle weakness is common in patients with Facioscapulohumeral Muscular Dystrophy (FSHD), the literature is scarce on the speech and swallowing aspects. Objective: To investigate speech and swallowing patterns in FSHD and assess the correlation with clinical data. Methods: A cross-sectional study was conducted. Patients with clinical confirmation of FSHD and aged above 18 years were included and paired with healthy control individuals by age and gender. Individuals who had neurological conditions that could interfere with test results were excluded. The following assessments were applied: speech tests (acoustic and auditory-perceptual analysis); swallowing tests with the Northwestern Dysphagia Patient Check Sheet (NDPCS), the Eat Assessment Tool (EAT-10), the Speech Therapy Protocol for Dysphagia Risk (PARD), and the Functional Oral Intake Scale (FOIS); disease staging using the modified Gardner-Medwin-Walton scale (GMWS); and quality of life with the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). The correlation between test results and clinical data was verified by non-parametric statistics. Results: Thirteen individuals with FSHD and 10 healthy controls were evaluated. The groups presented significant differences in the motor bases of phonation and breathing. Regarding swallowing, two (15%) individuals presented mild dysphagia and seven (53.8%) showed reduced facial muscles strength. These results were not correlated with duration of the disease, age at symptoms onset, and quality of life. Dysphagia was related to worsening disease severity. Conclusions: FSHD patients presented mild dysarthria and dysphagia. Frequent monitoring of these symptoms could be an important way to provide early rehabilitation and better quality of life.

RESUMO Antecedentes: Embora haja predomínio de fraqueza muscular facial na distrofia facioescapuloumeral (FSHD), é escassa a literatura sobre aspectos de fala e deglutição. Objetivo: Investigar os padrões de fala e deglutição na FSHD e correlacioná-los com dados clínicos da doença. Métodos: Estudo transversal. Pacientes com confirmação clínica de FSHD e idade acima de 18 anos foram incluídos e pareados por idade e sexo com controles saudáveis. Foram excluídos indivíduos que apresentassem condições neurológicas que pudessem interferir nos resultados dos testes. Aplicaram-se as seguintes avaliações: fala (análise acústica e perceptivo-auditiva); deglutição, por meio do Northwestern Dysphagia Patient Check Sheet (NDPCS), Eat Assessment Tool (EAT-10), Protocolo de Avaliação para Risco de Disfagia (PARD) e Functional Oral Intake Scale (FOIS); estadiamento da doença, por meio da Gardner-Medwin-Walton scale (GMWS); e qualidade de vida, com o Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). Resultados de fala e deglutição foram correlacionados com dados clínicos da doença por teste não paramétrico. Resultados: Foram avaliados 13 indivíduos com FSHD e dez controles saudáveis. Houve diferença significativa entre os grupos nas bases motoras fonação e respiração. Na deglutição, dois (15%) indivíduos apresentaram disfagia leve e sete (53,8%), força reduzida da musculatura da face. Esses resultados não foram correlacionados com tempo de doença, idade de início dos sintomas e qualidade de vida. A disfagia esteve relacionada com a gravidade da doença. Conclusões: Pacientes com FSHD apresentaram disartria e disfagia leves. O monitoramento frequente desses sintomas pode ser uma forma importante de proporcionar reabilitação precoce e melhor qualidade de vida.

Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy.

BACKGROUND: Although facial muscle weakness is common in patients with Facioscapulohumeral Muscular Dystrophy (FSHD), the literature is scarce on the speech and swallowing aspects. OBJECTIVE: To investigate speech and swallowing patterns in FSHD and assess the correlation with clinical data. METHODS: A cross-sectional study was conducted. Patients with clinical confirmation of FSHD and aged above 18 years were included and paired with healthy control individuals by age and gender. Individuals who had neurological conditions that could interfere with test results were excluded. The following assessments were applied: speech tests (acoustic and auditory-perceptual analysis); swallowing tests with the Northwestern Dysphagia Patient Check Sheet (NDPCS), the Eat Assessment Tool (EAT-10), the Speech Therapy Protocol for Dysphagia Risk (PARD), and the Functional Oral Intake Scale (FOIS); disease staging using the modified Gardner-Medwin-Walton scale (GMWS); and quality of life with the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). The correlation between test results and clinical data was verified by non-parametric statistics. RESULTS: Thirteen individuals with FSHD and 10 healthy controls were evaluated. The groups presented significant differences in the motor bases of phonation and breathing. Regarding swallowing, two (15%) individuals presented mild dysphagia and seven (53.8%) showed reduced facial muscles strength. These results were not correlated with duration of the disease, age at symptoms onset, and quality of life. Dysphagia was related to worsening disease severity. CONCLUSIONS: FSHD patients presented mild dysarthria and dysphagia. Frequent monitoring of these symptoms could be an important way to provide early rehabilitation and better quality of life.

Speech characteristics in individuals with myasthenia gravis: a case control study.

INTRODUCTION: Myasthenia Gravis (MG) is an autoimmune disease. The characteristic symptoms of the disease are muscle weakness and fatigue. These symptoms affect de oral muscles causing dysarthria, affecting about 60% of patients with disease progression. PURPOSE: Describe the speech pattern of patients with MG and comparing with healthy controls (HC). MATERIAL AND METHODS: Case-control study. Participants were divided in MG group (MGG) with 38 patients MG diagnosed and HC with 18 individuals matched for age and sex. MGG was evaluated with clinical and motor scales and answered self-perceived questionnaires. Speech assessment of both groups included: recording of speech tasks, acoustic and auditory-perceptual analysis. RESULTS: In the MGG, 68.24% of the patients were female, with average age of 50.21 years old (±16.47), 14.18 years (±9.52) of disease duration and a motor scale of 11.19 points (±8.79). The auditory-perceptual analysis verified that 47.36% (n = 18) participants in MGG presented mild dysarthria, 10.52% (n = 4) moderate dysarthria, with a high percentage of alterations in phonation (95.2%) and breathing (52.63%). The acoustic analysis verified a change in phonation, with significantly higher shimmer values in the MGG compared to the HC and articulation with a significant difference between the groups for the first formant of the /iu/ (p = <.001). No correlation was found between the diagnosis of speech disorder and the dysarthria self-perception questionnaire. CONCLUSION: We found dysarthria mild in MG patients with changes in the motor bases phonation and breathing, with no correlation with severity and disease duration.

Fatores associados a fragilidade em pacientes com doenças neurodegenerativas / Factors associated with frailty in patients with neurodegenerative diseases

RESUMO Objetivo Identificar os fatores associados à fragilidade em pacientes com doenças neurodegenerativas. Método Estudo transversal, cuja amostra foi composta por 150 pacientes com diagnóstico de doenças neurodegenerativas atendidos em um ambulatório de Fonoaudiologia de um hospital de referência no sul do Brasil. Foi realizada análise secundária exploratória dos prontuários dos pacientes atendidos neste ambulatório entre o período de abril de 2016 e maio de 2019. As informações coletadas foram: sexo, idade, escolaridade, tipo de doença neurodegenerativa, tempo de doença, fragilidade (Edmonton Frail Scale - EFS), deglutição (Northwestern Dysphagia Patient CheckSheet- NDPCS, Eating Assessment Tool-EAT 10) e cognição (Mini-Mental State Examination-MMSE e Montreal Cognitive Assessment-MoCA). As variáveis quantitativas contínuas foram analisadas a partir de média e desvio padrão e as quantitativas categóricas a partir de frequência absoluta e relativa, assim como analisou-se a associação destas com o desfecho pelo teste Qui-Quadrado. As Razões de Prevalência brutas e ajustadas foram avaliadas a partir da Regressão de Poisson com variância robusta. Todos os testes estatísticos foram considerados significativos a um nível de 5%. Resultados Os fatores significativos associados à fragilidade foram à presença de disfagia orofaríngea e desempenho cognitivo alterado. Indivíduos com a fragilidade apresentam maior prevalência de disfagia orofaríngea (RP=1,772(1,094-2,872)), enquanto a cognição alterada está associada a menor prevalência de fragilidade (RP=0,335(0,128-0,873). Conclusão A disfagia orofaríngea pode ser um importante fator clínico preditivo a ser considerado em casos de fragilidade em pacientes com doenças neurodegenerativas.

ABSTRACT Purpose To identify the factors associated with frailty in patients with neurodegenerative diseases. Methods Cross-sectional study, whose sample consisted of 150 patients diagnosed with neurodegenerative diseases seen at a speech-language therapy clinic in a reference hospital in southern Brazil. A secondary exploratory analysis of the medical records of patients treated at this clinic between April 2016 and May 2019 was performed. The information collected was sex, age, education, type of neurodegenerative disease, time of disease, frailty (Edmonton Frail Scale-EFS), swallowing (Northwestern Dysphagia Patient CheckSheet-NDPCS, Eating Assessment Tool-EAT 10), and cognition (Mini-Mental State Examination-MMSE and Montreal Cognitive Assessment-MoCA). Continuous quantitative variables were analyzed using mean and standard deviation and categorical quantitative variables from absolute and relative frequency, as well as their association with the outcome using the Chi-square test. Crude and adjusted Prevalence Ratios were assessed using Poisson regression with robust variance. All statistical tests were considered significant at a level of 5%. Results The significant factors associated with frailty were the presence of oropharyngeal dysphagia and altered cognitive performance. Individuals with frailty have a higher prevalence of oropharyngeal dysphagia (PR= 1.772(1.094-2.872)), while cognition alteration presented a lower prevalence (PR= 0.335(0.128-0.873). Conclusion Oropharyngeal dysphagia can be an important clinical predictive factor for consideration in cases of frailty in patients with neurodegenerative diseases.

Eficácia de terapia de fala em grupo para pacientes com a doença de Machado Joseph: uma série de casos / Effectiveness of group speech therapy for patients with Machado Joseph Disease: a series of cases / Eficiencia de la terapia del habla en grupo para pacientes con Enfermedad de Machado Joseph: una serie de casos

Objetivo: Verificar o benefício de terapia fonoaudiológica em grupo na inteligibilidade de fala de pacientes com Doença de Machado Joseph (DMJ). Método: Realizou-se uma série de casos, com pacientes atendidos em um ambulatório de fonoaudiologia para adultos neurodegenerativos em um hospital de referência no sul do Brasil. Foram incluídos pacientes com o diagnóstico molecular de DMJ. Realizaram-se coletas de fala pré e pós-intervenção. Posteriormente, os trechos de fala passaram por análise perceptiva-auditiva por 3 fonoaudiólogas treinadas e calibradas a um índice Kappa ≥ 0.90, cegas às coletas de fala e por análise acústica no software Praat. A terapia fonoaudiológica foi realizada em grupo, composta por quatro sessões semanais de cinquenta minutos. Cada sessão foi dividida entre exercícios de fala e orientação sobre estratégias para otimizar a comunicação. Resultados: A amostra foi composta por 5 pacientes com média de idade de 39,8 anos (±16,51) e tempo de doença de 10 anos (±8,15). Quatro (80%) participantes receberam diagnóstico fonoaudiológico inicial de disartria leve e um (20%) de disartria moderada. Após a intervenção, não houve melhora no diagnóstico de disartria, contudo verificou-se que 60% (n=3) dos participantes apresentaram melhora na articulação, 40% (n=2) na prosódia e ressonância e 40% (n=2) apresentaram piora na respiração. Na análise acústica observou-se melhora no tempo máximo de fonação (TMF) em 3 (60%) dos 5 pacientes. Conclusão: Verificou-se melhora na funcionalidade da fala através da análise perceptiva auditiva, porém com pouca melhora em parâmetros específicos da análise acústica.

Objective: To verify the benefit of group speech therapy in speech intelligibility of patients with Machado Joseph's disease (MJD). Methods: A series of cases was carried out, with patients seen in a speech therapy clinic for neurodegenerative adults in a referral hospital in southern Brazil. Patients with the molecular diagnosis of MJD were included. Speech recordings were performed before and after the intervention. Subsequently, the speech excerpts underwent auditory-perceptual analysis by 3 trained speech therapists and calibrated to a Kappa index ≥ 0.90, blind to speech collections and acoustic analysis in the Praat software. Speech therapy was performed in a group, consisting of four weekly sessions of fifty minutes. Each session was divided between speech exercises and guidance on strategies to optimize communication. Results: The sample consisted of 5 patients with a mean age of 39.8 years (± 16.51) and disease duration of 10 years (± 8.15). Four (80%) participants received an initial speech therapy diagnosis of mild dysarthria and one (20%) of moderate dysarthria. After the intervention, there was no improvement in the diagnosis of dysarthria, however it was found that 60% (n = 3) of the participants showed improvement in the speech motor bases: articulation, 40% (n = 2), prosody and resonance and 40% (n = 2) worsened in breathing. The acoustic analysis showed an improvement in maximum phonation time (MPT) in 3 (60%) of the 5 patients. Conclusion: Despite the little improvement in specific parameters of the acoustic analysis, there was an improvement in speech functionality from the auditory perceptual analysis, improving the speech intelligibility of this sample.

Objetivo: Verificar el beneficio de la logopedia grupal en la inteligibilidad del habla de pacientes con enfermedad de Machado Joseph (EMJ). Metodos: Se realizó una serie de casos, con pacientes atendidos en una clínica de logopedia para adultos neurodegenerativos en un hospital de referencia en el sur de Brasil. Se incluyeron pacientes con diagnóstico molecular de EMJ. Se realizaron grabación del habla antes y después de la intervención. Posteriormente, los extractos del habla se sometieron a un análisis auditivo-perceptivo por 3 logopedas capacitados y calibrados con un índice Kappa ≥ 0,90, ciegos a las grabación del habla y al análisis acústico en el software Praat. La logopedia se realizó en grupo, consistente en cuatro sesiones semanales de cincuenta minutos. Cada sesión se dividió entre ejercicios de habla y orientación sobre estrategias para optimizar la comunicación. Resultados: La muestra estuvo formada por 5 pacientes con una edad media de 39,8 años (± 16,51) y una duración de la enfermedad de 10 años (± 8,15). Cuatro (80%) participantes recibieron un diagnóstico inicial de terapia del habla de disartria leve y uno (20%) de disartria moderada. Tras la intervención, no hubo mejoría en el diagnóstico de disartria, sin embargo se encontró que el 60% (n = 3) de los participantes mostró mejoría en las bases motoras del habla: articulación, 40% (n = 2), prosodia y resonancia. y el 40% (n = 2) empeoró en la respiración. El análisis acústico mostró una mejora en el tiempo máximo de fonación (TMF) en 3 (60%) de los 5 pacientes. Conclusion: A pesar de la pequeña mejora en los parámetros específicos del análisis acústico, hubo una mejora en la funcionalidad del habla a partir del análisis de percepción auditiva, mejorando la inteligibilidad del habla de esta muestra.

Cognitive profile of patients with facioscapulohumeral muscular dystrophy / Perfil cognitivo de pacientes com distrofia muscular facioescapuloumeral

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.

RESUMO Embora seja uma doença predominantemente muscular, alterações no sistema nervoso central em pacientes com Distrofia Facioescapuloumeral (FSHD) têm sido descritas na literatura. Objetivo: Caracterizar o perfil cognitivo de pacientes com FSHD e correlacionar as alterações encontradas com variáveis clínicas e qualidade de vida. Métodos: Estudo transversal, caso-controle que avaliou pacientes com FSHD por meio de uma série de avaliações cognitivas (Mini Exame do Estado Mental — MEEM; Montreal Cognitive Assessment — MoCA; fluência verbal com restrição fonológica — FAS; fluência verbal categórica — FAS-cat; Trail Making Test — TMT; e Rey's Verbal Auditory Learning Test — RAVLT); uma escala de gravidade neurológica (Gardner-Medwin-Walton — GMWS); e um questionário (Medical Outcomes Study 36-Item Short-Form Health Survey — SF-36). Resultados: A amostra foi composta por 13 indivíduos com FSHD e 26 controles saudáveis, pareados por sexo e idade. A análise comparativa entre os grupos FSHD e controle mostrou diferenças significativas no desempenho cognitivo dos testes MEEM, TMT A e A7 (p≤0.05) e no MoCA (p≤0,001). Verificou-se uma correlação positiva com a idade de início dos sintomas e o prejuízo na memória de longo prazo (r=-0,593, p=0,033). Em relação à qualidade de vida, observou-se uma correlação entre o domínio de limitação emocional e os testes MEEM (r=0,657, p=0,015), TMT A (r=-0,601, p=0,030) e A7 (r=0,617, p=0,025). Conclusões: Pacientes com FSHD apresentaram alterações leves na realização de tarefas que envolvem as funções de atenção, planejamento e memória de longo prazo. Essas alterações não tiveram associação com o tempo de doença nem com sua gravidade neurológica.

Cognitive profile of patients with facioscapulohumeral muscular dystrophy.

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.

Embora seja uma doença predominantemente muscular, alterações no sistema nervoso central em pacientes com Distrofia Facioescapuloumeral (FSHD) têm sido descritas na literatura. Objetivo: Caracterizar o perfil cognitivo de pacientes com FSHD e correlacionar as alterações encontradas com variáveis clínicas e qualidade de vida. Métodos: Estudo transversal, caso-controle que avaliou pacientes com FSHD por meio de uma série de avaliações cognitivas (Mini Exame do Estado Mental ­ MEEM; Montreal Cognitive Assessment ­ MoCA; fluência verbal com restrição fonológica ­ FAS; fluência verbal categórica ­ FAS-cat; Trail Making Test ­ TMT; e Rey's Verbal Auditory Learning Test ­ RAVLT); uma escala de gravidade neurológica (Gardner-Medwin-Walton ­ GMWS); e um questionário (Medical Outcomes Study 36-Item Short-Form Health Survey ­ SF-36). Resultados: A amostra foi composta por 13 indivíduos com FSHD e 26 controles saudáveis, pareados por sexo e idade. A análise comparativa entre os grupos FSHD e controle mostrou diferenças significativas no desempenho cognitivo dos testes MEEM, TMT A e A7 (p≤0.05) e no MoCA (p≤0,001). Verificou-se uma correlação positiva com a idade de início dos sintomas e o prejuízo na memória de longo prazo (r=-0,593, p=0,033). Em relação à qualidade de vida, observou-se uma correlação entre o domínio de limitação emocional e os testes MEEM (r=0,657, p=0,015), TMT A (r=-0,601, p=0,030) e A7 (r=0,617, p=0,025). Conclusões: Pacientes com FSHD apresentaram alterações leves na realização de tarefas que envolvem as funções de atenção, planejamento e memória de longo prazo. Essas alterações não tiveram associação com o tempo de doença nem com sua gravidade neurológica.

Cognitive performance in patients with Myasthenia Gravis: an association with glucocorticosteroid use and depression.

We investigated the cognitive performance of patients with Myasthenia Gravis (MG) through a cross-sectional study. A battery of cognitive assessments and self-report questionnaires regarding quality of life (QoL), sleep, and depression were applied. The sample consisted of 39 patients diagnosed with MG. The scores showed a predominance of cognitive impairment in the Montreal Cognitive Assessment screening test (MoCA) (66.7%) and in the immediate (59.0%) and recent memory (56.4%) tests. However, after the Poisson regression analysis with robust variance, it was found that patients diagnosed with depression had a prevalence ratio (PR) of 1,887 (CI 1,166‒3,054) for lower MoCA scores, PR=9,533 (CI 1,600‒56,788) for poorer phonemic verbal fluency scores, and PR=12,426 (CI 2,177‒70,931) for the Semantic Verbal Fluency test. Moreover, concerning a decline in short-term memory retention, patients using glucocorticosteroids (GC) and with Beck Depression Inventory scores indicating depression showed PR=11,227 (CI 1,736‒72,604) and PR=0.35 (CI 0.13‒0.904), respectively. No correlation was found between the QoL questionnaire and performance in cognitive tests. We found worse performance in tasks of memory and executive functions in MG patients. These are not associated with the length and severity of the disease. However, a significant prevalence ratio was found for poorer memory performance in patients diagnosed with depression and in those using GC.

Investigamos o desempenho cognitivo de pacientes com miastenia gravis (MG) por meio de um estudo transversal. Aplicou-se uma bateria de avaliações cognitivas e questionários de autopercepção sobre qualidade de vida (QV), sono e depressão. A amostra foi composta por 39 pacientes com diagnóstico de MG. Os escores mostraram predominância de comprometimento cognitivo no teste de rastreio Montreal Cognitive Assessment (MoCA) (66,7%) e nas tarefas de memória imediata (59,0%) e recente (56,4%). Entretanto, após a análise de regressão de Poisson com variância robusta, verificou-se que os pacientes diagnosticados com depressão apresentaram uma razão de prevalência (RP)=1.887 (IC 1.166‒3.054) para escores mais baixos no MoCA, RP=9.533 (IC 1.600‒56.788) nos testes de fluência verbal fonêmica e RP=12.426 (IC 2.177‒70.931) no teste de fluência verbal semântica. Além disso, uma associação entre pior desempenho nas tarefas de memória de retenção de curto prazo nos pacientes em uso de glucocorticoides (GC) e com os escores do Beck Depression Inventory indicando depressão, com RP=11.227 (IC 1.736‒72.604) e RP=0.35 (IC 0.13‒0.904), respectivamente. Não foi encontrada correlação entre o questionário de QV e o desempenho em testes cognitivos. Sendo assim, conclui-se que foi observado pior desempenho em tarefas de memória e funções executivas em pacientes com MG. Estes não estão associados ao tempo e à gravidade da doença. No entanto, uma taxa de prevalência significativa foi encontrada para pior desempenho da memória em pacientes diagnosticados com depressão e naqueles em uso de glucocorticoides.

Cognitive performance in patients with Myasthenia Gravis: an association with glucocorticosteroid use and depression / Desempenho cognitivo em pacientes com Miastenia Gravis: uma associação com o uso de glucocorticoides e depressão

ABSTRACT. We investigated the cognitive performance of patients with Myasthenia Gravis (MG) through a cross-sectional study. A battery of cognitive assessments and self-report questionnaires regarding quality of life (QoL), sleep, and depression were applied. The sample consisted of 39 patients diagnosed with MG. The scores showed a predominance of cognitive impairment in the Montreal Cognitive Assessment screening test (MoCA) (66.7%) and in the immediate (59.0%) and recent memory (56.4%) tests. However, after the Poisson regression analysis with robust variance, it was found that patients diagnosed with depression had a prevalence ratio (PR) of 1,887 (CI 1,166‒3,054) for lower MoCA scores, PR=9,533 (CI 1,600‒56,788) for poorer phonemic verbal fluency scores, and PR=12,426 (CI 2,177‒70,931) for the Semantic Verbal Fluency test. Moreover, concerning a decline in short-term memory retention, patients using glucocorticosteroids (GC) and with Beck Depression Inventory scores indicating depression showed PR=11,227 (CI 1,736‒72,604) and PR=0.35 (CI 0.13‒0.904), respectively. No correlation was found between the QoL questionnaire and performance in cognitive tests. We found worse performance in tasks of memory and executive functions in MG patients. These are not associated with the length and severity of the disease. However, a significant prevalence ratio was found for poorer memory performance in patients diagnosed with depression and in those using GC.

RESUMO. Investigamos o desempenho cognitivo de pacientes com miastenia gravis (MG) por meio de um estudo transversal. Aplicou-se uma bateria de avaliações cognitivas e questionários de autopercepção sobre qualidade de vida (QV), sono e depressão. A amostra foi composta por 39 pacientes com diagnóstico de MG. Os escores mostraram predominância de comprometimento cognitivo no teste de rastreio Montreal Cognitive Assessment (MoCA) (66,7%) e nas tarefas de memória imediata (59,0%) e recente (56,4%). Entretanto, após a análise de regressão de Poisson com variância robusta, verificou-se que os pacientes diagnosticados com depressão apresentaram uma razão de prevalência (RP)=1.887 (IC 1.166‒3.054) para escores mais baixos no MoCA, RP=9.533 (IC 1.600‒56.788) nos testes de fluência verbal fonêmica e RP=12.426 (IC 2.177‒70.931) no teste de fluência verbal semântica. Além disso, uma associação entre pior desempenho nas tarefas de memória de retenção de curto prazo nos pacientes em uso de glucocorticoides (GC) e com os escores do Beck Depression Inventory indicando depressão, com RP=11.227 (IC 1.736‒72.604) e RP=0.35 (IC 0.13‒0.904), respectivamente. Não foi encontrada correlação entre o questionário de QV e o desempenho em testes cognitivos. Sendo assim, conclui-se que foi observado pior desempenho em tarefas de memória e funções executivas em pacientes com MG. Estes não estão associados ao tempo e à gravidade da doença. No entanto, uma taxa de prevalência significativa foi encontrada para pior desempenho da memória em pacientes diagnosticados com depressão e naqueles em uso de glucocorticoides.