ABSTRACT
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.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Speech Intelligibility , Speech Therapy , Machado-Joseph Disease , Treatment Outcome , Dysarthria/therapy , Controlled Before-After StudiesABSTRACT
El papel del psicólogo clínico en el contexto del consejo genético incluye brindar apoyo a los sujetos en riesgo en el proceso de toma de decisiones, independientemente de la decisión adoptada por el sujeto (conociendo o no el resultado de las pruebas genéticas). El estudio que se informa aborda la motivación para realizar las pruebas pre-sintomáticas (PPS) de sujetos en situación de riesgo para tres enfermedades: polineuropatía amiloide familiar (PAF), la enfermedad de Huntington (EH) y la enfermedad de Machado-Joseph (EMJ) y comparar con la motivación para realizar las PPS para hemocromatosis (HH). La muestra consistió en 213 sujetos portugueses que tenían riesgo genético para contraer las tres enfermedades y 31 sujetos en situación de riesgo genético para contraer hemocromatosis. Ellos fueron evaluados con una entrevista para obtener datos sociodemográficos y debían responder a una pregunta sobre la motivación para llevar a cabo las pruebas pre-sintomáticas. Se obtuvieron siete categorías principales y las siguientes son las más significativas para PAF, EH y EMJ: razones relacionadas con el futuro, razones relacionadas con los demás y razones relacionadas con la curiosidad y la necesidad de conocer. Para hemocromatosis, las más importantes resultaron ser razones relacionadas con los demás y las relacionadas con las características de la enfermedad. La motivación para realizar el test pre-sintomático (PST) de la PAF, EH y EMJ es externa y sin relación con la enfermedad, mientras que la motivación de los sujetos en situación de riesgo para la HH está relacionada con la enfermedad. Las razones relacionadas con los demás es una motivación común en ambos grupos. A los sujetos también les preocupa la posibilidad de transmitir la enfermedad a sus hijos.
The role of the clinical psychologist in the context of genetic counseling includes support for the process of decision-making for subjects at-risk, regardless of the decision that was made. For this, it is important to know the motivations behind these decisions. What may be considered advant-ageous and justifiable reasons to perform the PST for genetic diseases from the medical and public point of view, i.e., planning for the future, helping in the choice of a profession, family planning, improving quality of life and contributing to health, may not be recognized as such by the individual seeking the PST. This study addresses the motivation to perform the presymptomatic testing (PST) of subjects at-risk for three diseases, Familial Amyloid Polyneuro pathy (FAP), Huntington's disease (HD), and Machado-Joseph disease (MJD), compared with the motivation to perform the PST for Hemochromatosis (HH). FAP, HD and MJD are three genetic (monogenic) autosomal dominant late-onset diseases (LON-Ds) with no cure. FAP is a progressive sensorimotor and autonomic neuropathy of adult hood. HD is characterized by a triad of clinical symptoms of chorea (motor, cognitive and psychiatric symptoms), emotional distress and cognitive decline. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait, sometimes mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, and may be accompanied by double vision or bulging eyes, and lower limb spasticity. HH is a disease in which too much iron accumulates in parenchymal organs, leading to iron overload and subsequent organ toxicity and failure. The study participants consisted in 213 subjects at genetic risk for FAP, HD, and MJD and 31 subjects at genetic risk for HH, that were assessed through an interview to obtain sociodemographic data and the answer to one question about motivation to perform PST: "Which were the reasons that led you to perform the predictive test? "This study was carried out in Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto (Portugal). This research used a mixed-method, since qualitative and quantitative techniques of data analysis were used. Before deciding to seek genetic counseling and to know their genetic status, subjects at-risk have naturally considered their motives and it was probably the pro-counseling reasons the ones dictating the motivation to perform the PST. This may suggest that in fact there is a prior self-selection to the test, i.e. only those considering to have emotional skills to go through the process, performing the test. Seven major categories were obtained. The most significant ones for FAP, HD and MJD were reasons related to the future, reasons related to others and reasons related to curiosity and to the need to know. For HH, the most important ones were reasons related to others and reasons related to the characteristics of the disease. The motivation of subjects at-risk to perform the PST for FAP, HD and MJD is external and unrelated to the disease, while the motivation of subjects at-risk to perform the PST for HH is related to the disease. Reasons related to others area common motivation: as subjects at-risk for FAP, HD and MJD, subjects at-risk for HH also chose reasons related to others as one of the most important motivations to carry out the PST. These subjects also care about the fact that they can transmit the disease to their children and care about other family members which are already ill. The category reasons related to others includes sub-categories that identify the person and the situation that led to the decision to perform a PST. Subjects at-risk are also concerned about the fact that they have to decide whether or not to have children and its economic implications.
ABSTRACT
La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.
Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.