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1.
Mov Disord ; 38(7): 1163-1174, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37208983

RESUMO

BACKGROUND: Dystonia is associated with disabling nonmotor symptoms like chronic pain (CP), which is prevalent in dystonia and significantly impacts the quality of life (QoL). There is no validated tool for assessing CP in dystonia, which substantially hampers pain management. OBJECTIVE: The aim was to develop a CP classification and scoring system for dystonia. METHODS: A multidisciplinary group was established to develop the Dystonia-Pain Classification System (Dystonia-PCS). The classification of CP as related or unrelated to dystonia was followed by the assessment of pain severity score, encompassing pain intensity, frequency, and impact on daily living. Then, consecutive patients with inherited/idiopathic dystonia of different spatial distribution were recruited in a cross-sectional multicenter validation study. Dystonia-PCS was compared to validated pain, mood, QoL, and dystonia scales (Brief Pain Inventory, Douleur Neuropathique-4 questionnaire, European QoL-5 Dimensions-3 Level Version, and Burke-Fahn-Marsden Dystonia Rating Scale). RESULTS: CP was present in 81 of 123 recruited patients, being directly related to dystonia in 82.7%, aggravated by dystonia in 8.8%, and nonrelated to dystonia in 7.5%. Dystonia-PCS had excellent intra-rater (Intraclass Correlation Coefficient - ICC: 0.941) and inter-rater (ICC: 0.867) reliability. In addition, pain severity score correlated with European QoL-5 Dimensions-3 Level Version's pain subscore (r = 0.635, P < 0.001) and the Brief Pain Inventory's severity and interference scores (r = 0.553, P < 0.001 and r = 0.609, P < 0.001, respectively). CONCLUSIONS: Dystonia-PCS is a reliable tool to categorize and quantify CP impact in dystonia and will help improve clinical trial design and management of CP in patients affected by this disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Assuntos
Distonia , Distúrbios Distônicos , Transtornos dos Movimentos , Humanos , Distonia/diagnóstico , Distonia/complicações , Qualidade de Vida , Estudos Transversais , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Distúrbios Distônicos/complicações , Distúrbios Distônicos/diagnóstico , Transtornos dos Movimentos/complicações , Dor
2.
Arq Neuropsiquiatr ; 80(5 Suppl 1): 94-104, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35976316

RESUMO

BACKGROUND: Parkinson's disease (PD) is a complex neurodegenerative condition. Treatment strategies through all stages of disease progression could affect quality of life and influence the development of future complications, making it crucial for the clinician to be on top of the literature. OBJECTIVE: This paper reviews the current treatment of PD, from early to advanced stages. METHODS: A literature review was conducted focusing on the treatment of PD, in the different stages of progression. RESULTS: Every individual with a new diagnosis of PD should be encouraged to start exercising regularly. In the early stage, treatment should focus on using the lowest dose of levodopa or combination therapy that provides maximum functional capacity, and does not increase the risk of complications, such as peak dose dyskinesias and impulse control disorders. At the moderate and advanced stages, motor fluctuations and complications of treatment dominate the picture, making quality of life one important issue. Rehabilitation programs can improve motor symptoms and should be offered to all patients at any stage of disease progression. CONCLUSION: Many factors need to be considered when deciding on the best treatment strategy for PD, such as disease progression, presence of risk factors for motor and behavioral complications, potential side effects from dopaminergic therapy and phenotypical variabilities. Treatment should focus on functional capacity and quality of life throughout the whole disease course.


Assuntos
Discinesias , Doença de Parkinson , Antiparkinsonianos/efeitos adversos , Progressão da Doença , Discinesias/complicações , Discinesias/tratamento farmacológico , Humanos , Levodopa/efeitos adversos , Qualidade de Vida
3.
Arq. neuropsiquiatr ; 80(5,supl.1): 94-104, May 2022. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1393918

RESUMO

ABSTRACT Background: Parkinson's disease (PD) is a complex neurodegenerative condition. Treatment strategies through all stages of disease progression could affect quality of life and influence the development of future complications, making it crucial for the clinician to be on top of the literature. Objective: This paper reviews the current treatment of PD, from early to advanced stages. Methods: A literature review was conducted focusing on the treatment of PD, in the different stages of progression. Results: Every individual with a new diagnosis of PD should be encouraged to start exercising regularly. In the early stage, treatment should focus on using the lowest dose of levodopa or combination therapy that provides maximum functional capacity, and does not increase the risk of complications, such as peak dose dyskinesias and impulse control disorders. At the moderate and advanced stages, motor fluctuations and complications of treatment dominate the picture, making quality of life one important issue. Rehabilitation programs can improve motor symptoms and should be offered to all patients at any stage of disease progression. Conclusion: Many factors need to be considered when deciding on the best treatment strategy for PD, such as disease progression, presence of risk factors for motor and behavioral complications, potential side effects from dopaminergic therapy and phenotypical variabilities. Treatment should focus on functional capacity and quality of life throughout the whole disease course.


RESUMO Antecedentes: A doença de Parkinson (DP) é uma doença neurodegenerativa complexa. As estratégias de tratamento ao longo de todos os estágios da evolução podem influenciar a qualidade de vida e o desenvolvimento de futuras complicações e, portanto, devem ser devidamente conhecidas pelos médicos que assistem o paciente. Objetivo: Neste artigo são revistos os tratamentos atuais para a DP, desde o estágio inicial até os estágios avançados. Métodos: Uma revisão da literatura foi realizada com enfoque em diferentes estágios da doença. Resultados: Todos os pacientes que recebem o diagnóstico de DP devem ser orientados a praticar atividades físicas regularmente. Em fase inicial do tratamento a estratégia consiste em usar doses mínimas de levodopa ou terapias combinadas que propiciem máxima capacidade funcional, que não aumentem o risco de complicações motoras, tais como discinesias induzidas por levodopa, ou não motoras, como transtornos do controle do impulso. Em estágio moderado ou avançado da doença, complicações como flutuações motoras e discinesias tornam-se relevantes e devem ser manejadas adequadamente. Programas de reabilitação devem ser oferecidos para os pacientes em todos os estágios da DP. Conclusões: Vários fatores devem ser considerados ao se escolher a melhor estratégia para o tratamento da DP. Entre eles destacam-se: fatores de risco para o desenvolvimento de complicações motoras e comportamentais, potenciais efeitos colaterais da terapia dopaminérgica e variabilidade fenotípica. O objetivo das estratégias de tratamento ao longo de toda a evolução da doença é a melhoria da capacidade funcional e da qualidade de vida dos pacientes.

4.
Neurol Sci ; 43(2): 1061-1065, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34297264

RESUMO

BACKGROUND: Although abnormal movements and postures are the hallmark of dystonia, non-motor symptoms (NMS) are common and negatively affect quality of life. OBJECTIVES: The aim of this study was to screen dystonia patients for NMS and analyze their association with clinical parameters, including motor disability. METHODS: Adult patients with idiopathic isolated dystonia were interviewed and examined. Dystonia severity was evaluated with the Fahn-Marsden Dystonia Rating Scale and the presence of NMS was assessed using a list of 29 complaints. RESULTS: A hundred and two patients (63.7% female) were enrolled. Dystonia began after 20 years of age in 61.8% and was focal or segmental in 82.8% of patients. Only eight patients (7.8%) had no NMS and 59.8% reported more than five. The most prevalent NMS were pain (72.5%) and anxiety (63.7%), followed by difficulty recalling information (44.1%), sadness/anhedonia (41.2%), and difficulty falling asleep (38.2%). No correlation was found between the total number of NMS and dystonia severity (p = 0.18) or regular botulinum toxin use (p = 0.66). The majority of NMS domains correlated with each other. CONCLUSIONS: Our results confirm a high prevalence of NMS among dystonia patients, even in those with mild motor disability. The pathophysiology of NMS in dystonia remains to be completely understood.


Assuntos
Pessoas com Deficiência , Distonia , Transtornos Motores , Adulto , Distonia/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Qualidade de Vida , Autorrelato
5.
Arq Neuropsiquiatr ; 79(5): 460-462, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-34161533

RESUMO

The major advances in the area of movement disorders in Brazil in recent years were driven by the work of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa. This historical review describes the contributions made by these researchers, physicians, and educators to the development of this field in Brazil.


Assuntos
Transtornos dos Movimentos , Médicos , Brasil , Humanos
6.
Arq Neuropsiquiatr ; 79(2): 175-177, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33759986

RESUMO

Roberto Melaragno Filho, an associate professor of neurology at the School of Medicine of Universidade de São Paulo and head of the neurology service at Hospital do Servidor Público Estadual Francisco Morato Oliveira (HSPE-FMO), had a significant scientific career. He is recognized as a reference in the 20th century Brazilian neurology in addition to having a notable international career.


Assuntos
Neurologia , Brasil , História do Século XX , Hospitais , Humanos , Masculino , Instituições Acadêmicas
7.
J Clin Neurosci ; 76: 208-210, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32284289

RESUMO

Dystonia is a disabling movement disorder characterized by co-contraction of antagonist and agonist muscles, leading to abnormal sustained postures and impaired motor control. Cervical Dystonia (CD) and Hand Focal Dystonia (HFD) have been the most common forms of focal dystonia (FD). Do Non-Invasive Brain Neuromodulation (NIBS) such as Transcranial Direct Current Stimulation (tDCS) and repetitive Transcranial Magnetic Stimulation (rTMS) modulate the excitability of the connections between the motor cortical areas and may represent a therapeutic alternative for focal dystonia? Herein, we reported three cases of focal dystonia, two of them with cervical dystonia (CD) and one with hand focal dystonia (HFD), treated with NIBS combined to kinesiotherapy. The patients were daily submitted to 15 sessions of NIBS combined simultaneously with kinesiotherapy. CD patients were treated with tDCS (2 mA, 20 min, over the primary motor cortex), and HFD patient with rTMS (1 Hz, 1200 pulses, 80% of resting motor threshold, over the premotor cortex). For the CD patient's assessment, the Modified Toronto Scale for Cervical Dystonia Assessment (MTS), quiet balance test, and visual postural assessment were applied to observe the therapeutic effects. Quality handwriting analysis, tremor acceleration amplitudes, and the Wrinter's Cramp Rating Scale (WCRS) were used to assess the NIBS effect on HFD symptoms. Patients were evaluated before (pretest), immediately after (posttest), and three months after treatment (retention). NIBS associated with kinesiotherapy produced a long-term improvement of dystonia symptoms in all three patients. rTMS and tDCS associated with kinesiotherapy showed to be useful and safe to relief the dystonia symptoms in individuals with different types of focal dystonia with distinct functional disorders. SIGNIFICANCE: The combined use of these intervention strategies seems to optimize and anticipate satisfactory clinical results in these neurological conditions, characterized by its difficult clinical management.


Assuntos
Distúrbios Distônicos/terapia , Estimulação Transcraniana por Corrente Contínua , Estimulação Magnética Transcraniana , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Córtex Motor/fisiopatologia , Técnicas Estereotáxicas , Torcicolo
9.
Parkinsonism Relat Disord ; 48: 93-96, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29279192

RESUMO

INTRODUCTION: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia. METHODS: We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants was investigated in healthy Brazilian controls and in public databases. Homozygosity in the PRKRA region was assessed through polymorphic markers. RESULTS: PRKRA variants were identified in seven probands with isolated dystonia, including a novel c.C795A variant in compound heterozygosity with the previously described c.C665T variant. Heterozygosity in the gene region was observed in two probands who were homozygous for c.C665T, indicating that this mutation originated from independent events, suggesting a hotspot. CONCLUSION: PRKRA is not an unusual cause of idiopathic dystonia. In this cohort, it was responsible for 4.5% of the total of cases (4.9% of the isolated dystonia cases). The most common phenotype was early-onset isolated focal dystonia followed by generalization, parkinsonism was not observed. This is first report of PRKRA causing adulthood-onset dystonia. Screenings of large cohorts are recommended to investigate the role of this gene in isolated dystonia, as well as in dystonia-parkinsonism cases worldwide.


Assuntos
Distonia/epidemiologia , Distonia/genética , Mutação/genética , Proteínas de Ligação a RNA/genética , Adulto , Idade de Início , Brasil , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
12.
Dement. neuropsychol ; 10(4): 327-332, Oct.-Dec. 2016. tab
Artigo em Inglês | LILACS | ID: biblio-828639

RESUMO

ABSTRACT Background: The need for efficacy in voice rehabilitation in patients with Parkinson's disease is well established. Given difficulties traveling from home to treatment centers, the use of telerehabilitation may represent an invaluable tool for many patients. Objective: To analyze the influence of cognitive performance on acceptance of telerehabilitation. Methods: Fifty patients at stages 2-4 on the Hoehn-Yahr scale, aged 45-87 years old, with cognitive scores of19-30 on the Mini-Mental State Examination, and 4-17 years of education were enrolled. All patients were submitted to evaluation of voice intensity pre and post in-person treatment with the Lee Silverman Voice Treatment (LSVT) and were asked to fill out a questionnaire regarding their preferences between two options of treatment and evaluating basic technological competence. Results: Comparisons between pre and post-treatment values showed a mean increase of 14dBSPL in vocal intensity. When asked about potential acceptance to participate in future telerehabilitation, 38 subjects agreed to take part and 12 did not. For these two groups, 26% and 17% self-reported technological competence, respectively. Agreement to engage in remote therapy was positively associated with years of education and cognitive status. Conclusion: Responses to the questionnaire submitted after completion of traditional in-person LSVT showed that the majority of patients (76%) were willing to participate in future telerehabilitation. Age, gender, disease stage and self-reported basic technological skills appeared to have no influence on the decision, whereas other factors such as cognitive status and higher school education were positively associated with acceptance of the new therapy approach.


RESUMO Embasamento: A eficácia na reabilitação da voz em pacientes com doença de Parkinson está bem estabelecida. Tendo em vista as dificuldades de lidar com a locomoção de casa para centros de tratamento, o uso da telerreabilitação pode representar uma ferramenta inestimável para muitos pacientes. Objetivo: Analisar a influência do desempenho cognitivo na aceitação da telerreabilitação. Métodos: Participaram cinquenta pacientes em estágios 2-4 de acordo com a escala de Hoehn-Yahr, com idade entre 45 e 87 anos, escores cognitivos de 19 a 30 no Mini-Exame do Estado Mental e escolaridade entre 4-17 anos. Todos foram submetidos à avaliação da intensidade da voz antes e depois do tratamento pelo Lee Silverman Voice Treatment (LSVT) e foram convidados a responder um questionário sobre suas preferências entre duas opções de tratamento. Resultados: O tratamento resultou em aumento médio de 14dBNPS. Quando questionados sobre a possibilidade de aceitação para participar de um futuro programa de telerreabilitação, 38 indivíduos concordaram e 12 não. Em relação a estes dois grupos, a competência tecnológica foi referida em 26% e 17%, respectivamente. A aceitação à telerreabilitação foi positivamente relacionada com anos de estudo e estado cognitivo. Conclusão: As respostas ao Questionário após a conclusão do LSVT tradicional mostraram que a maioria dos pacientes (76%) concordaria em participar de uma futura telerreabilitação. Idade, sexo, estágio da doença ou competência tecnológica não pareceu influenciar na adesão à telerreabilitação enquanto que outros fatores, como estado cognitivo e anos de escolaridade foram positivamente relacionados com a aceitação da nova forma de terapia.


Assuntos
Humanos , Doença de Parkinson , Cognição , Telerreabilitação
15.
Codas ; 28(2): 176-81, 2016 Apr.
Artigo em Inglês, Português | MEDLINE | ID: mdl-27191882

RESUMO

UNLABELLED: Parkinson's disease (PD) is a neurodegenerative condition associated with motor, neuropsychological, sensorial, and vocal symptoms. It has been suggested that eventual obstacles faced by many patients to reach speech therapy rehabilitation centers could be overcome with the use of synchronous telerehabilitation (real time) approach employing communication technologies. PURPOSE: To investigate the efficacy of vocal telerehabilitation in PD patients. METHODS: Twenty patients diagnosed with PD and with vocal complaints participated in this study. Patients were evaluated by videoconference (Adobe Connect 8) before and after treatment. Evaluation method consisted of perceptual analysis of vocal quality measured by the GRBASI scale. Treatment was conducted following the extended version of Lee Silverman method (LSVT-X). At the end of treatment all patients were requested to fill a questionnaire to assess their experience with telerehabilitation. RESULTS: Analysis revealed decrease in magnitude of voice quality changes after the intervention, indicating improvement of vocal pattern. All patients reported satisfaction and preference for telerehabilitation compared to face-to-face rehabilitation, as well as positive perception of audio and video. Some technological adversities have been identified but did not prevent the approaches to assessment and treatment. CONCLUSION: Present results suggest that telerehabilitation methods can be considered as an effective treatment for speech symptoms associated with PD and can be indicated to patients presenting limited access to speech therapy centers and technological readiness.


Assuntos
Doença de Parkinson/reabilitação , Fonoterapia/métodos , Telerreabilitação/métodos , Distúrbios da Voz/reabilitação , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Doença de Parkinson/complicações , Satisfação do Paciente , Qualidade de Vida , Reprodutibilidade dos Testes , Medida da Produção da Fala , Patologia da Fala e Linguagem , Estatísticas não Paramétricas , Fatores de Tempo , Resultado do Tratamento , Distúrbios da Voz/etiologia , Qualidade da Voz
16.
CoDAS ; 28(2): 176-181, mar.-abr. 2016. tab
Artigo em Português | LILACS | ID: lil-782147

RESUMO

RESUMO A doença de Parkinson (DP) é uma moléstia neurodegenerativa associada a significantes prejuízos motores, neuropsicológicos e sensoriais. Alterações na qualidade da voz são frequentes durante o curso da doença e os pacientes enfrentam obstáculos no acesso a serviços de reabilitação fonoaudiológica adequada. A telerreabilitação é uma possível solução para esse problema, uma vez que pode ser implementada a distância, com recursos de telemedicina, via tecnologias de comunicação e informação. Objetivo: Investigar a eficiência da telerreabilitação da voz em pacientes com DP. Métodos: Participaram 20 pacientes com DP e queixas de voz. A telerreabilitação síncrona (em tempo real) ocorreu a partir de videoconferência (Adobe Connect 8), os pacientes foram telerreabilitados pela versão estendida do Lee Silverman Voice Treatment (LSVT-X) e avaliados, antes e depois dessa intervenção por meio de análise perceptual da qualidade vocal pela Escala GRBASI. No final da intervenção, todos responderam a questionário estruturado sobre a experiência com a telerreabilitação. Resultados: As análises revelaram diminuição na magnitude das alterações da qualidade da voz após a intervenção, indicando melhoria do padrão vocal. Todos os pacientes relataram satisfação e preferência pela telerreabilitação em comparação com a reabilitação presencial, assim como positiva percepção de áudio e vídeo. Algumas adversidades tecnológicas foram identificadas, mas não impediram as abordagens de avaliação e tratamento. Conclusão: Os resultados sugerem que a telerreabilitação seja uma intervenção eficiente para os sintomas da qualidade da voz associados à DP e pode ser indicada para pacientes com acesso a tecnologias e dificuldades no alcance de profissionais ou centros especializados.


ABSTRACT Parkinson’s disease (PD) is a neurodegenerative condition associated with motor, neuropsychological, sensorial, and vocal symptoms. It has been suggested that eventual obstacles faced by many patients to reach speech therapy rehabilitation centers could be overcome with the use of synchronous telerehabilitation (real time) approach employing communication technologies. Purpose: To investigate the efficacy of vocal telerehabilitation in PD patients. Methods: Twenty patients diagnosed with PD and with vocal complaints participated in this study. Patients were evaluated by videoconference (Adobe Connect 8) before and after treatment. Evaluation method consisted of perceptual analysis of vocal quality measured by the GRBASI scale. Treatment was conducted following the extended version of Lee Silverman method (LSVT-X). At the end of treatment all patients were requested to fill a questionnaire to assess their experience with telerehabilitation. Results: Analysis revealed decrease in magnitude of voice quality changes after the intervention, indicating improvement of vocal pattern. All patients reported satisfaction and preference for telerehabilitation compared to face-to-face rehabilitation, as well as positive perception of audio and video. Some technological adversities have been identified but did not prevent the approaches to assessment and treatment. Conclusion: Present results suggest that telerehabilitation methods can be considered as an effective treatment for speech symptoms associated with PD and can be indicated to patients presenting limited access to speech therapy centers and technological readiness.


Assuntos
Humanos , Masculino , Feminino , Adulto , Idoso , Doença de Parkinson/reabilitação , Fonoterapia/métodos , Distúrbios da Voz/reabilitação , Telerreabilitação/métodos , Doença de Parkinson/complicações , Qualidade de Vida , Medida da Produção da Fala , Fatores de Tempo , Qualidade da Voz , Distúrbios da Voz/etiologia , Reprodutibilidade dos Testes , Patologia da Fala e Linguagem , Resultado do Tratamento , Satisfação do Paciente , Estatísticas não Paramétricas , Pessoa de Meia-Idade , Testes Neuropsicológicos
17.
Arq Neuropsiquiatr ; 74(2): 117-21, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26982988

RESUMO

Speech disorders are common manifestations of Parkinson´s disease. Objective To compare speech articulation in patients according to age at onset of the disease. Methods Fifty patients was divided into two groups: Group I consisted of 30 patients with age at onset between 40 and 55 years; Group II consisted of 20 patients with age at onset after 65 years. All patients were evaluated based on the Unified Parkinson's Disease Rating Scale scores, Hoehn and Yahr scale and speech evaluation by perceptual and acoustical analysis. Results There was no statistically significant difference between the two groups regarding neurological involvement and speech characteristics. Correlation analysis indicated differences in speech articulation in relation to staging and axial scores of rigidity and bradykinesia for middle and late-onset. Conclusions Impairment of speech articulation did not correlate with age at onset of disease, but was positively related with disease duration and higher scores in both groups.


Assuntos
Doença de Parkinson/complicações , Distúrbios da Fala/etiologia , Idade de Início , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/fisiopatologia , Índice de Gravidade de Doença , Distúrbios da Fala/fisiopatologia
18.
Arq. neuropsiquiatr ; 74(2): 117-121, Feb. 2016. tab
Artigo em Inglês | LILACS | ID: lil-776439

RESUMO

ABSTRACT Speech disorders are common manifestations of Parkinson´s disease. Objective To compare speech articulation in patients according to age at onset of the disease. Methods Fifty patients was divided into two groups: Group I consisted of 30 patients with age at onset between 40 and 55 years; Group II consisted of 20 patients with age at onset after 65 years. All patients were evaluated based on the Unified Parkinson’s Disease Rating Scale scores, Hoehn and Yahr scale and speech evaluation by perceptual and acoustical analysis. Results There was no statistically significant difference between the two groups regarding neurological involvement and speech characteristics. Correlation analysis indicated differences in speech articulation in relation to staging and axial scores of rigidity and bradykinesia for middle and late-onset. Conclusions Impairment of speech articulation did not correlate with age at onset of disease, but was positively related with disease duration and higher scores in both groups.


RESUMO Distúrbios da fala são comuns da doença de Parkinson. Objetivo Comparar a articulação da fala de acordo com a idade de início da doença. Métodos Cinquenta pacientes foram divididos em dois grupos: Grupo I consistiu de 30 pacientes com idade de início entre 40 e 55 anos; Grupo II foi composto por 20 pacientes com idade de início após os 65 anos. Todos foram avaliados pela Unified Parkinson’s Disease Rating Scale, Hoehn and Yahr e análise perceptual e acústica da fala. Resultados Não houve diferença estatística significativa entre os dois grupos quanto às características neurológicas e de fala. Análises de correlação indicaram diferença estatística significativa entre articulação da fala, estágio da doença e escores axiais, de rigidez e bradicinesia. Conclusões A articulação da fala não se correlacionou com a idade de início da doença, mas foi positivamente relacionada à duração da doença e aos escores mais elevados nos dois grupos.


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Doença de Parkinson/complicações , Distúrbios da Fala/etiologia , Doença de Parkinson/fisiopatologia , Distúrbios da Fala/fisiopatologia , Índice de Gravidade de Doença , Idade de Início
19.
J Neurol ; 263(4): 665-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26810727

RESUMO

GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing. Functional characterization of the Gαolf protein variant was performed using the bioluminescence resonance energy transfer assay. A novel heterozygous nonsynonymous variant (p. F133L) was identified in a patient with cervical and laryngeal dystonia since the third decade of life, with no family history. This variant was not identified in healthy Brazilian controls and was not described in 63,000 exomas of the ExAC database. The F133L mutant exhibited significantly elevated levels of basal BRET and severely diminished amplitude of response elicited by dopamine, that both indicate substantial functional impairment of Gαolf in transducing receptor signals, which could be involved in dystonia pathophysiology. GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations. We present a novel variant that results in partial Gαolf loss of function.


Assuntos
Distúrbios Distônicos/genética , Subunidades alfa de Proteínas de Ligação ao GTP/genética , Mutação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
20.
Dement Neuropsychol ; 10(4): 327-332, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-29213477

RESUMO

BACKGROUND: The need for efficacy in voice rehabilitation in patients with Parkinson's disease is well established. Given difficulties traveling from home to treatment centers, the use of telerehabilitation may represent an invaluable tool for many patients. OBJECTIVE: To analyze the influence of cognitive performance on acceptance of telerehabilitation. METHODS: Fifty patients at stages 2-4 on the Hoehn-Yahr scale, aged 45-87 years old, with cognitive scores of19-30 on the Mini-Mental State Examination, and 4-17 years of education were enrolled. All patients were submitted to evaluation of voice intensity pre and post in-person treatment with the Lee Silverman Voice Treatment (LSVT) and were asked to fill out a questionnaire regarding their preferences between two options of treatment and evaluating basic technological competence. RESULTS: Comparisons between pre and post-treatment values showed a mean increase of 14dBSPL in vocal intensity. When asked about potential acceptance to participate in future telerehabilitation, 38 subjects agreed to take part and 12 did not. For these two groups, 26% and 17% self-reported technological competence, respectively. Agreement to engage in remote therapy was positively associated with years of education and cognitive status. CONCLUSION: Responses to the questionnaire submitted after completion of traditional in-person LSVT showed that the majority of patients (76%) were willing to participate in future telerehabilitation. Age, gender, disease stage and self-reported basic technological skills appeared to have no influence on the decision, whereas other factors such as cognitive status and higher school education were positively associated with acceptance of the new therapy approach.


EMBASAMENTO: A eficácia na reabilitação da voz em pacientes com doença de Parkinson está bem estabelecida. Tendo em vista as dificuldades de lidar com a locomoção de casa para centros de tratamento, o uso da telerreabilitação pode representar uma ferramenta inestimável para muitos pacientes. OBJETIVO: Analisar a influência do desempenho cognitivo na aceitação da telerreabilitação. MÉTODOS: Participaram cinquenta pacientes em estágios 2-4 de acordo com a escala de Hoehn-Yahr, com idade entre 45 e 87 anos, escores cognitivos de 19 a 30 no Mini-Exame do Estado Mental e escolaridade entre 4-17 anos. Todos foram submetidos à avaliação da intensidade da voz antes e depois do tratamento pelo Lee Silverman Voice Treatment (LSVT) e foram convidados a responder um questionário sobre suas preferências entre duas opções de tratamento. RESULTADOS: O tratamento resultou em aumento médio de 14dBNPS. Quando questionados sobre a possibilidade de aceitação para participar de um futuro programa de telerreabilitação, 38 indivíduos concordaram e 12 não. Em relação a estes dois grupos, a competência tecnológica foi referida em 26% e 17%, respectivamente. A aceitação à telerreabilitação foi positivamente relacionada com anos de estudo e estado cognitivo. CONCLUSÃO: As respostas ao Questionário após a conclusão do LSVT tradicional mostraram que a maioria dos pacientes (76%) concordaria em participar de uma futura telerreabilitação. Idade, sexo, estágio da doença ou competência tecnológica não pareceu influenciar na adesão à telerreabilitação enquanto que outros fatores, como estado cognitivo e anos de escolaridade foram positivamente relacionados com a aceitação da nova forma de terapia.

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