58 resultados para Dysarthria
Resumo:
Les ataxies héréditaires sont des désordres neuro-dégénératifs qui causent une ataxie comme symptôme primaire; soit une perte de coordination des mouvements volontaires, un sens de l’équilibre déficient et un trouble à la motricité. Elles forment un groupe cliniquement et génétiquement hétérogène. De ce fait, de nombreuses classifications existent basées sur différents critères. Cependant, le consensus actuel veut que le mode de transmission soit le critère premier de classement. On estime la prévalence mondiale des ataxies héréditaires à 6/100 000 bien que ce nombre diffère entre régions. C’est le cas du Québec où la structuration historique du bassin génétique canadien-français a menée à des effets fondateurs régionaux, ce qui a eu comme conséquence de hausser la prévalence régionale de certaines maladies. L’Acadie est également une région canadienne-française avec des effets fondateurs où le taux de prévalence de certaines ataxies héréditaires est plus élevé. Nous avons recruté huit familles canadiennes-françaises provenant de diverses régions du Québec, ayant un lien génétique plus ou moins rapproché avec l’Acadie, dans lesquelles nous avons observé dix cas d’une forme d’ataxie spastique autosomique récessive relativement légère qui a résistée à l’analyse des gènes d’ataxies connues. Nous avons émis l’hypothèse d’être en présence d’une nouvelle forme d’ataxie à effet fondateur pour la population canadienne-française. Afin d’identifier le gène muté responsable de cette ataxie, un criblage génomique des marqueurs SNP pour les individus recrutés fut effectué. Puis, par cartographie de l’homozygotie, une région de 2,5 Mb fut identifiée sur le chromosome 17p13 dans une famille. Une revue de la littérature nous a permis de constater, qu’en 2007, quatre familles nord-africaines atteintes d’une ataxie dénommée SPAX2 qui présentaient des manifestations cliniques semblables avaient déjà été liées au même locus sur le chromosome 17. Afin de supporter notre hypothèse que les malades étaient porteurs de deux copies de la même mutation fondatrice et de cartographier plus finement notre région d’intérêt, les haplotypes de tous les atteints de nos huit familles furent étudiés. Nous avons établie qu’un intervalle de 200 kb (70 SNP), soit du marqueur rs9900036 à rs7222052, était partagé par tous nos participants. Les deux gènes les plus prometteurs des 18 se trouvant dans la région furent séquencés. Aucune mutation ne fut trouvée dans les gènes SLC25A11 et KIF1C. Par la suite, une analyse de liaison génétique stricte avec calcul de LOD score nous a permis d’exclure ce locus de 200 kb comme étant celui porteur du gène muté causant l’ataxie dans la majorité de nos familles. Nous avons donc conclus que malgré qu’une famille soit homozygote pour une grande région du chromosome 17, l’absence d’Informativité des marqueurs SNP dans la région de 200 kb fut responsable de l’apparent partage d’haplotype homozygote. Le travail reste donc entier afin d’identifier les mutations géniques responsables de la présentation ataxique chez nos participants de souche acadienne.
Resumo:
Les ataxies forment un groupe de maladies neurodégénératives qui sont caractérisées par un manque de coordination des mouvements volontaires. Mes travaux ont porté sur une forme d'ataxie à début tardif (LOCA), après l’âge de 50 ans. Les principales caractéristiques cliniques sont: atrophie cérébelleuse à l’IRM (88%), dysarthrie (81%), atrophie du lobe frontal (50%) et nystagmus (52%). La ségrégation dans les familles de cette ataxie est en faveur d’une transmission récessive. Afin d'identifier le gène responsable de LOCA, nous avons recruté 38 patients affectés d'une forme tardive d'ataxie, issus du SLSJ, des Cantons de l’Est ou d’autres régions du Québec. Un premier criblage du génome a été effectué avec des marqueurs microsatellites sur une famille clé. Une analyse de liaison paramétrique nous a suggéré une liaison au chromosome 13 (4.4Mb). Une recherche d’un haplotype partagé entre 17 familles LOCA a diminué la taille de l'intervalle candidat à 1.6Mb, mais l’haplotype s’est avéré fréquent dans la population canadienne-française. Un second criblage du génome avec des marqueurs SNP nous a permis d’évaluer par cartographie d’homozygotie la possibilité qu’une mutation fondatrice partagée dans des sous-groupes de malades. Plusieurs stratégies d'analyse ont été effectuées, entre autre par regroupement régional. Aucun loci candidats ne fut identifié avec confiance. Nous avons donc combiné les données de génotypage avec le séquençage exomique afin d'identifier le gène responsable. L'analyse de six individus atteints nous a permis d'obtenir une liste de variants rare contenant quatre gènes potentiels. Cette analyse doit se poursuivre pour identifier le gène responsable de LOCA.
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Se realizó un capítulo sobre la descripción del examen neurológico como herramienta principal en el abordaje del paciente con patología neurológica.
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Although the Unified Huntington's Disease Rating Scale (UHDRS) is widely used in the assessment of Huntington disease (HD), the ability of individual items to discriminate individual differences in motor or behavioral manifestations has not been extensively studied in HD gene expansion carriers without a motor-defined clinical diagnosis (ie, prodromal-HD or prHD). To elucidate the relationship between scores on individual motor and behavioral UHDRS items and total score for each subscale, a nonparametric item response analysis was performed on retrospective data from 2 multicenter longitudinal studies. Motor and behavioral assessments were supplied for 737 prHD individuals with data from 2114 visits (PREDICT-HD) and 686 HD individuals with data from 1482 visits (REGISTRY). Option characteristic curves were generated for UHDRS subscale items in relation to their subscale score. In prHD, overall severity of motor signs was low, and participants had scores of 2 or above on very few items. In HD, motor items that assessed ocular pursuit, saccade initiation, finger tapping, tandem walking, and to a lesser extent, saccade velocity, dysarthria, tongue protrusion, pronation/supination, Luria, bradykinesia, choreas, gait, and balance on the retropulsion test were found to discriminate individual differences across a broad range of motor severity. In prHD, depressed mood, anxiety, and irritable behavior demonstrated good discriminative properties. In HD, depressed mood demonstrated a good relationship with the overall behavioral score. These data suggest that at least some UHDRS items appear to have utility across a broad range of severity, although many items demonstrate problematic features.
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Bowen and colleagues’ methods and conclusions raise concerns.1 At best, the trial evaluates the variability in current practice. In no way is it a robust test of treatment. Two communication impairments (aphasia and dysarthria) were included. In the post-acute stage spontaneous recovery is highly unpredictable, and changes in the profile of impairment during this time are common.2 Both impairments manifest in different forms,3 which may be more or less responsive to treatment. A third kind of impairment, apraxia of speech, was not excluded but was not targeted in therapy. All three impairments can and do co-occur. Whether randomised controlled trial designs can effectively cope with such complex disorders has been discussed elsewhere.4 Treatment was defined within terms of current practice but was unconstrained. Therefore, the treatment group would have received a variety of therapeutic approaches and protocols, some of which may indeed be ineffective. Only 53% of the contact time with a speech and language therapist was direct (one to one), the rest was impairment based therapy. In contrast, all of the visitors’ time was direct contact, usually in conversation. In both groups, the frequency and length of contact time varied. We already know that the transfer from impairment based therapy to functional communication can be limited and varies across individuals.5 However, it is not possible to conclude from this trial that one to one impairment based therapy should be replaced. For that, a well defined impairment therapy protocol must be directly compared with a similarly well defined functional communication therapy, with an attention control.
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Parkinson's disease (PD) is a degenerative illness whose cardinal symptoms include rigidity, tremor, and slowness of movement. In addition to its widely recognized effects PD can have a profound effect on speech and voice.The speech symptoms most commonly demonstrated by patients with PD are reduced vocal loudness, monopitch, disruptions of voice quality, and abnormally fast rate of speech. This cluster of speech symptoms is often termed Hypokinetic Dysarthria.The disease can be difficult to diagnose accurately, especially in its early stages, due to this reason, automatic techniques based on Artificial Intelligence should increase the diagnosing accuracy and to help the doctors make better decisions. The aim of the thesis work is to predict the PD based on the audio files collected from various patients.Audio files are preprocessed in order to attain the features.The preprocessed data contains 23 attributes and 195 instances. On an average there are six voice recordings per person, By using data compression technique such as Discrete Cosine Transform (DCT) number of instances can be minimized, after data compression, attribute selection is done using several WEKA build in methods such as ChiSquared, GainRatio, Infogain after identifying the important attributes, we evaluate attributes one by one by using stepwise regression.Based on the selected attributes we process in WEKA by using cost sensitive classifier with various algorithms like MultiPass LVQ, Logistic Model Tree(LMT), K-Star.The classified results shows on an average 80%.By using this features 95% approximate classification of PD is acheived.This shows that using the audio dataset, PD could be predicted with a higher level of accuracy.
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The aim of this thesis is to investigate computerized voice assessment methods to classify between the normal and Dysarthric speech signals. In this proposed system, computerized assessment methods equipped with signal processing and artificial intelligence techniques have been introduced. The sentences used for the measurement of inter-stress intervals (ISI) were read by each subject. These sentences were computed for comparisons between normal and impaired voice. Band pass filter has been used for the preprocessing of speech samples. Speech segmentation is performed using signal energy and spectral centroid to separate voiced and unvoiced areas in speech signal. Acoustic features are extracted from the LPC model and speech segments from each audio signal to find the anomalies. The speech features which have been assessed for classification are Energy Entropy, Zero crossing rate (ZCR), Spectral-Centroid, Mean Fundamental-Frequency (Meanf0), Jitter (RAP), Jitter (PPQ), and Shimmer (APQ). Naïve Bayes (NB) has been used for speech classification. For speech test-1 and test-2, 72% and 80% accuracies of classification between healthy and impaired speech samples have been achieved respectively using the NB. For speech test-3, 64% correct classification is achieved using the NB. The results direct the possibility of speech impairment classification in PD patients based on the clinical rating scale.
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Background: Voice processing in real-time is challenging. A drawback of previous work for Hypokinetic Dysarthria (HKD) recognition is the requirement of controlled settings in a laboratory environment. A personal digital assistant (PDA) has been developed for home assessment of PD patients. The PDA offers sound processing capabilities, which allow for developing a module for recognition and quantification HKD. Objective: To compose an algorithm for assessment of PD speech severity in the home environment based on a review synthesis. Methods: A two-tier review methodology is utilized. The first tier focuses on real-time problems in speech detection. In the second tier, acoustics features that are robust to medication changes in Levodopa-responsive patients are investigated for HKD recognition. Keywords such as Hypokinetic Dysarthria , and Speech recognition in real time were used in the search engines. IEEE explorer produced the most useful search hits as compared to Google Scholar, ELIN, EBRARY, PubMed and LIBRIS. Results: Vowel and consonant formants are the most relevant acoustic parameters to reflect PD medication changes. Since relevant speech segments (consonants and vowels) contains minority of speech energy, intelligibility can be improved by amplifying the voice signal using amplitude compression. Pause detection and peak to average power rate calculations for voice segmentation produce rich voice features in real time. Enhancements in voice segmentation can be done by inducing Zero-Crossing rate (ZCR). Consonants have high ZCR whereas vowels have low ZCR. Wavelet transform is found promising for voice analysis since it quantizes non-stationary voice signals over time-series using scale and translation parameters. In this way voice intelligibility in the waveforms can be analyzed in each time frame. Conclusions: This review evaluated HKD recognition algorithms to develop a tool for PD speech home-assessment using modern mobile technology. An algorithm that tackles realtime constraints in HKD recognition based on the review synthesis is proposed. We suggest that speech features may be further processed using wavelet transforms and used with a neural network for detection and quantification of speech anomalies related to PD. Based on this model, patients' speech can be automatically categorized according to UPDRS speech ratings.
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Sabe-se que o tratamento fonoaudiológico de pacientes com afasia severa é limitado. A ausência de fala articulada, algumas vezes, impede o diagnóstico da afasia. O paciente grave pode não falar devido à inabilidade de articulação, como ocorre na disartria e/ou apraxia. Essa ausência de fala não permite afirmar se a linguagem está comprometida. O uso da comunicação suplementar e alternativa tem sido um método eficaz na reabilitação desses pacientes. Esse estudo visou descrever o uso da comunicação suplementar e alternativa associada a outras modalidades de linguagem (escrita, gestos), a partir do relato de dois casos de afasia. A análise dos dados foi composta por dois blocos: a introdução da comunicação suplementar e alternativa no diálogo; e o uso da leitura e escrita associado aos símbolos. A comunicação suplementar e alternativa foi um apoio para a oralidade, leitura e escrita dos pacientes.
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OBJETIVO: traduzir e adaptar protocolo desenvolvido por pesquisadores alemães, adequando-o às características fonéticas e linguísticas do português falado no Brasil. Caracterizar os componentes de fala mais alterados na população com doença de Parkinson, comparando-os com grupo de sujeitos normais na mesma faixa etária. MÉTODOS: realizou-se a tradução e adaptação do protocolo. Posteriormente foram avaliados 21 pacientes com diagnóstico neurológico de Doença de Parkinson nos estágios Hoehn &Yarh, entre 2 e 3, e 10 sujeitos normais. O protocolo incluía avaliação da respiração, fonação, ressonância, articulação, prosódia e a análise acústica dos parâmetros vocais. RESULTADOS: o protocolo mostrou-se de fácil aplicação clínica. Nos sujeitos com doença de Parkinson foram observadas alterações predominantes na fonação (85,9%) e articulação (42,9%). CONCLUSÃO: o estudo demonstrou ser o protocolo uma ferramenta eficiente para a avaliação da disartria em pacientes com doença de Parkinson.
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The association of unilateral trochlear nerve palsy with Claude Bernard-Horner syndrome represents a rare clinical condition. We present the case of a patient with this unusual presentation. The investigation performed implicated cerebrovascular disease as the underlying cause of the condition in this patient. © 2011 S. Karger AG, Basel.
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O mercúrio é um perigoso metal e uma importante fonte de contaminação ambiental no Brasil e sobretudo na Amazônia. O principal órgão-alvo deste metal é o SNC onde causa danos que podem levar aos sintomas clássicos: ataxia, parestesia, disartria e alterações no desenvolvimento do sistema nervoso de crianças. A contaminação mercurial nos rios amazônicos aumenta a quantidade encontrada nos peixes, principalmente os que estão no topo da cadeia alimentar, expondo dessa forma a populações ribeiras à intoxicação mercurial, uma vez que o peixe é um elemento central na dieta dessas populações. Por isso, é fundamental o monitoramento periódico dos níveis de mercúrio nas espécies de peixes consumidas nessa região. Nosso trabalho se propôs a identificar os níveis de metilmercúrio e mercúrio inorgânico nas espécies de peixes mais consumidas pelas populações ribeirinhas da região do Tapajós e comparálos com os níveis encontrados em peixes da mesma espécie obtidos na região de Belém. Além disso, realizar uma comparação com os resultados obtidos por Dos Santos et al. (2000) e analisando os nível atuais e os antigos. Os peixes foram coletados no mercado municipal de Itaituba, no Tapajós, e no mercado do Ver-o-peso, em Belém. Amostras de músculo de cada peixe foram liofilizadas e analisadas pela Universidad de Castilla-La Mancha (Espanha) para quantificação do metilmercúrio e do mercúrio inorgânico. Os resultados obtidos no presente trabalho mostraram que somente os peixes piscívoros da região do Tapajós apresentam níveis de metilmercúrio acima do limite preconizado pela OMS (0,5 μg/g). Em todos todos os grupos do estudo, os níveis de mercúrio inorgânico estão bem abaixo deste limite. A espécie mais contaminada foi a Brachyplatystoma flavicans (dourada) chegando a ultrapassar até cinco vezes o limite de tolerância da OMS. Com nossos dados, pode-se dizer que os peixes da região do Tapajós continuam atualmente expostos a altas concentrações de mercúrio. As espécies não-piscívoras tiveram baixas concentrações de mercúrio orgânico, sendo aptas para consumo humano. O presente estudo apoia a importância do monitoramento continuado dos ambientes considerados expostos e não expostos na Amazônia. O conhecimento originado por este monitoramento fomentará definitivamente o desenvolvimento de estratégias de prevenção e de ações governamentais perante o problema da contaminação mercurial na Amazônia.
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Este trabalho é um estudo prospectivo e descritivo dos aspectos epidemiológicos e clínicos de 72 envenenamentos por escorpiões admitidos no Hospital Municipal de Santarém, Estado do Pará, Brasil, entre fevereiro de 2000 a fevereiro de 2001. Trouxeram o animal 8,3% das vítimas, os quais foram identificados como T. cambridgei. O sexo masculino foi acometido em 83,3%. A idade das vítimas e o tempo para o socorro médico foram respectivamente de 33,6±18,3 anos e 4,6±3,2 horas em média. Os membros superiores foram acometidos em 51,5% dos casos. As manifestações locais estiveram presentes em 91,7% e as sistêmicas em 98,6% dos envenenamentos. Entre os sintomas locais encontramos: parestesia em 79,2%, dor em 52,8%, e edema em 26,4% dos casos. Nas manifestações sistêmicas predominou as queixas neurológicas em 97,2% das vítimas, sendo o sintoma de sensação de "choque elétrico" pelo corpo (88,9%) o mais freqüente. No exame neurológico os sinais mais encontrados foram: mioclonias (93,0%), dismetria (86,1%), disartria (80,6%) e ataxia de marcha (70,8%). Classificou-se como moderados 76,4% dos envenenamentos, sem nenhum caso grave. Deixaram de realizar a soroterapia 32,7% dos casos moderados, por ausência de soro específico no momento do atendimento. O escorpionismo da região de Santarém mostra um comportamento clínico regional diferente daqueles descritos no Brasil e de outros locais da Amazônia e, apresenta uma clínica predominantemente neurológica, ainda não descrita na literatura brasileira.
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Background: Scorpion envenomations are a major public health problem in Brazil, whose most dangerous cases are attributable to the genus Tityus. This study was designed to compare the clinical and demographic features of envenomations by Tityus obscurus in two areas of the state of Para located in the Amazon basin. Were compared demographic findings, local and systemic signs and symptoms of human envenomations caused by T. obscurus that occurred in western and eastern areas of the state.Results: Forty-eight patients with confirmed envenomation by T. obscurus were evaluated from January 2008 to July 2011. Most of them came from the eastern region, where male and female patients were present in similar numbers, while males predominated in the west. Median age groups were also similar in both areas. Most scorpion stings took place during the day and occurred significantly more frequently on the upper limbs. The time between the sting and admission to the health center was less than three hours in both areas. Most eastern patients had local manifestations while in the west, systemic manifestations predominated. Local symptoms were similar in both areas, but systemic signs and symptoms were more common in the west. Symptoms frequently observed at the sting site were local and radiating pain, paresthesia, edema, erythema, sweating, piloerection and burning. The systemic manifestations were significantly higher in patients from the west. Futhermore, neurological symptoms such as general paresthesia, ataxia, dysarthria, myoclonus, dysmetria, and electric shock-like sensations throughout the body were reported only by patients from the west.Conclusion: The present study shows that two regions of Para state differ in the clinical manifestations and severity of confirmed envenomation by T. obscurus which suggests a toxicity variation resulting from the diversity of T. obscurus venom in different areas of the Brazilian Amazon basin, and that T. serrulatus antivenom can be successfully used against T. obscurus.
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Antibiotics are potentially a cause of neurotoxicity in dialysis patients, the most common are thebeta-lactams as ceftazidime and cefepime, and few cases have been reported after piperacillin/tazobactam use. This report presents a case of a hypertensive and diabetic 67-year-old woman inregular hemodialysis, which previously had a stroke. She was hospitalized presenting pneumonia,which was initially treated with cefepime. Two days after treatment, she presented dysarthria, lefthemiparesis, ataxia, and IX and X cranial nerves paresis. Computed tomography showed no acutelesions and cefepime neurotoxicity was hypothesized, and the antibiotic was replaced bypiperacillin/tazobactam. The neurologic signs disappeared; however, 4 days after with piperacillin/tazobactam treatment, the neurological manifestations returned. A new computed tomographyshowed no new lesions, and the second antibiotic regimen withdrawn. After two hemodialysissessions, the patient completely recovered from neurological manifestations. The patient presentedsequentially neurotoxicity caused by two beta-lactams antibiotics. This report meant to alertclinicians that these antibiotics have dangerous neurological effects in chronic kidney diseasepatients.