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.

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.

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.

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.

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.

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.

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.

Validation of Content and Reliability of the Protocol for the Evaluation of Acquired Speech Disorders in Individuals with Parkinson's Disease (PADAF). / Validação de conteúdo e confiabilidade do Protocolo de Avaliação dos Distúrbios Adquiridos de Fala em Indivíduos com Doença de Parkinson (PADAF).

PURPOSE: To develop a protocol for the evaluation of acquired speech disorders in individuals with Parkinson's disease (PADAF) and to validate its content and determine its inter-judge reliability. METHODS: The study was carried out in three stages: in the first one, the protocol was prepared and its content validated through the analysis of seven specialists; in the second, the instrument was applied to 25 individuals with idiopathic Parkinson's disease (PD); in the third and last stage, the inter-judge reliability was determined. RESULTS: The final version of PADAF consisted of 32 items that evaluated breathing, phonation, resonance, articulation, and prosody. It was shown to be valid, with a content validity index (CVI) much higher than that established in the literature, and with perfect agreement in the determination of inter-judge reliability. CONCLUSION: PADAF for PD individuals was developed and its content was validated, showing perfect instrument reliability.

OBJETIVO: Elaborar e realizar a validação de conteúdo, assim como verificar a confiabilidade entre examinador do Protocolo de Avaliação dos Distúrbios Adquiridos de Fala em Indivíduos com Doença de Parkinson (PADAF). MÉTODO: O estudo foi realizado em três etapas. Na primeira, foi elaborado o protocolo e validado seu conteúdo mediante análise de sete especialistas. Na segunda, aplicou-se o instrumento em 25 indivíduos com doença de Parkinson (DP) idiopática. Na terceira e última etapa, verificou-se a confiabilidade entre-examinador. RESULTADOS: A versão final do PADAF foi composta de 32 itens que avaliam a respiração, a fonação, a ressonância, a articulação e a prosódia. Mostrou-se válido, com índice de validade de conteúdo (IVC) bem acima daquele estabelecido na literatura e com perfeita concordância na verificação da confiabilidade entre examinador. CONCLUSÃO: O PADAF para indivíduos com DP foi desenvolvido e teve seu conteúdo validado com perfeita confiabilidade do instrumento.

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Background: Little is known about the cognitive profile of Hereditary Spastic Paraplegias (HSP), where most scientific attention has been given to motor features related to corticospinal tract degeneration. Objectives: We aimed to perform a broad characterization of the cognitive functions of patients with pure and complicated HSP as well as to determine the frequency of abnormal cognitive performances in the studied subtypes. Methods: A two-center cross-sectional case-control study was performed. All individuals underwent cognitive assessment through screening tests (Mini Mental State Examination-MEEM and Montreal Cognitive Assessment-MOCA) and tests to assess specific cognitive functions (Verbal fluency with phonological restriction-FAS; Verbal categorical fluency-FAS-cat and Rey's Verbal Auditory Learning Test -RAVLT). Results: Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study. SPG4 patients had worse performances in MOCA, FAS, FAS-cat, and RAVLT when compared to controls. Most SPG4 patients presented cognitive changes not compatible with dementia, performing poorly in memory, attention and executive functions. SPG5 patients scored lower in executive functions and memory, and SPG7 patients performed poorly on memory tasks. All evaluated cognitive functions were markedly altered in CTX and SPG11 patients. Conclusions: Cognitive abnormalities are frequent in HSP, being more severe in complicated forms. However, cognitive impairments of pure HSPs might impact patients' lives, decreasing families' socioeconomic status and contributing to the overall disease burden.

Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias.

OBJECTIVES: Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. METHODS: A two-center cross-sectional prevalence study was performed. Genetically confirmed HSP patients were evaluated using the Northwestern Dysphagia Patient Check Sheet and the Functional Oral Intake Scale. In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the Swallowing Disturbance Questionnaire. RESULTS: Thirty-six patients with spastic paraplegia type 4 (SPG4), five with SPG11, four with SPG5, four with cerebrotendinous xanthomatosis (CTX), three with SPG7, and two with SPG3A were evaluated. Mild to moderate oropharyngeal dysphagia was present in 3/5 (60%) of SPG11 and 2/4 (50%) of CTX patients. A single SPG4 (2%) and a single SPG7 (33%) patient had mild oropharyngeal dysphagia. All other evaluated patients presented with normal or functional swallowing. CONCLUSIONS: Clinically significant oropharyngeal dysphagia was only present in complicated forms of HSP Patients with SPG11 and CTX had the highest risks for dysphagia, suggesting that surveillance of swallowing function should be part of the management of patients with these disorders.

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).

Translation, linguistic and cultural adaptation, reliability and validity of the Radboud Oral Motor Inventory for Parkinson's Disease - ROMP questionnaire.

OBJECTIVE: To translate and linguistically and culturally adapt to Brazilian Portuguese, and verify the reliability and validity of the Radboud Oral Motor Inventory for Parkinson's Disease (ROMP). METHODS: The ROMP was translated and retranslated, and the instrument reliability was verified by analyzing the internal consistency and the reproducibility of the intra-examiner retest. The final version was applied to 27 participants with Parkinson's disease. RESULTS: Internal consistency was 0.99 for the total ROMP and 0.96 to 0.99 for the three domains. Intraclass correlation coefficients for reproducibility were 0.99 for the total ROMP and 0.93 to 0.99 for the subscales. The ROMP and its subscales correlated substantially with the Likert-type scale, as well as with the unified Parkinson's disease rating scale II and III items. CONCLUSION: The linguistic and cultural equivalence of the ROMP in Brazilian Portuguese is now available, with excellent reliability and validity.

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.

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.

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.

Benefit from the Chin-Down Maneuver in the Swallowing Performance and Self-Perception of Parkinson's Disease Patients.

Aims. To verify the effectiveness of the maneuver application in swallowing therapy with PD. Materials and Method. We performed an open-label trial, with three groups compounds by PD individuals: the experimental group, control group, and orientation group. The study included PD patients with dysphagia. A cognitive screening, through a questionnaire about depression and quality of life, was conducted. Swallowing assessment was performed through (1) fiberoptic endoscopic evaluation of swallowing (FEES); (2) clinical evaluation and Functional Oral Intake Scale (FOIS); and (3) assessment of the quality life related to swallowing (SWALQOL). A therapeutic program, which consisted of chin-down postural maneuver and orientations on feeding, was applied. Both groups (EG and OG) received on-month therapeutic program. Results. A significant improvement in swallowing, evaluated by clinical assessment, was observed in solid (p < 0.001) and liquid (p = 0.022) consistencies in EG when compared to OG and CG. Patients in EG presented improvement in QoL, with the significant difference in comparison with the other groups, about domain frequency of symptoms (p = 0.029) in SWALQOL questionnaire. Conclusion. The postural maneuver chin-down improved swallowing performance and self-perception, but not the laryngeal signs. This trial is registered with registration number NCT02973698.

Different outcomes of phonemic verbal fluency in Parkinson's disease patients with subthalamic nucleus deep brain stimulation.

Subthalamic nucleus deep brain stimulation (STN-DBS) is a surgical technique to treat motor symptoms in patients with Parkinson's disease (PD). Studies have shown that STN-DBS may cause a decline in verbal fluency performance. We aimed to verify the effects of STN-DBS on the performance of phonemic verbal fluency in Brazilian PD patients. Sixteen participants were evaluated on the Unified Parkinson's Disease Rating Scale - Part III and for phonemic fluency ("FAS" version) in the conditions of on- and off-stimulation. We identified two different patterns of phonemic verbal fluency outcomes. The results indicate that there may be no expected pattern of effect of bilateral STN-DBS in the phonemic fluency, and patients may present with different outcomes for some reason not well understood.