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1.
Brain Sci ; 13(1)2023 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-36672094

RESUMO

Nonspeech (or paraspeech) parameters are widely used in clinical assessment of speech impairment in persons with dysarthria (PWD). Virtually every standard clinical instrument used in dysarthria diagnostics includes nonspeech parameters, often in considerable numbers. While theoretical considerations have challenged the validity of these measures as markers of speech impairment, only a few studies have directly examined their relationship to speech parameters on a broader scale. This study was designed to investigate how nonspeech parameters commonly used in clinical dysarthria assessment relate to speech characteristics of dysarthria in individuals with movement disorders. Maximum syllable repetition rates, accuracies, and rates of isolated and repetitive nonspeech oral-facial movements and maximum phonation times were compared with auditory-perceptual and acoustic speech parameters. Overall, 23 diagnostic parameters were assessed in a sample of 130 patients with movement disorders of six etiologies. Each variable was standardized for its distribution and for age and sex effects in 130 neurotypical speakers. Exploratory Graph Analysis (EGA) and Confirmatory Factor Analysis (CFA) were used to examine the factor structure underlying the diagnostic parameters. In the first analysis, we tested the hypothesis that nonspeech parameters combine with speech parameters within diagnostic dimensions representing domain-general motor control principles. In a second analysis, we tested the more specific hypotheses that diagnostic parameters split along effector (lip vs. tongue) or functional (speed vs. accuracy) rather than task boundaries. Our findings contradict the view that nonspeech parameters currently used in dysarthria diagnostics are congruent with diagnostic measures of speech characteristics in PWD.

2.
J Speech Lang Hear Res ; 59(2): 216-29, 2016 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-27057824

RESUMO

PURPOSE: Although dysarthria affects the large majority of individuals with cerebral palsy (CP) and can substantially complicate everyday communication, previous research has provided an incomplete picture of its clinical features. We aimed to comprehensively describe characteristics of dysarthria in adults with CP and to elucidate the impact of dysarthric symptoms on parameters relevant for communication. METHOD: Forty-two adults with CP underwent speech assessment by means of standardized auditory rating scales. Listening experiments were conducted to obtain communication-related parameters-that is, intelligibility and naturalness-as well as age and gender estimates. RESULTS: The majority of adults with CP showed moderate to severe dysarthria with symptoms on all dimensions of speech, most prominently voice quality, respiration, and prosody. Regression analyses revealed that articulatory, respiratory, and prosodic features were the strongest predictors of intelligibility and naturalness of speech. Listeners' estimates of the speakers' age and gender were predominantly determined by voice parameters. CONCLUSION: This study provides an overview on the clinical presentation of dysarthria in a convenience sample of adults with CP. The complexity of the functional impairment described and the consequences on the individuals' communication call for a stronger consideration of dysarthria in CP both in clinical care and in research.


Assuntos
Paralisia Cerebral/complicações , Comunicação , Disartria/etiologia , Adolescente , Adulto , Paralisia Cerebral/fisiopatologia , Disartria/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inteligibilidade da Fala , Adulto Jovem
3.
Dis Model Mech ; 8(11): 1389-400, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26398944

RESUMO

Plastic changes in synaptic properties are considered as fundamental for adaptive behaviors. Extracellular-signal-regulated kinase (ERK)-mediated signaling has been implicated in regulation of synaptic plasticity. Ribosomal S6 kinase 2 (RSK2) acts as a regulator and downstream effector of ERK. In the brain, RSK2 is predominantly expressed in regions required for learning and memory. Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and low IQ scores in affected males. Knockout of RSK2 in mice or the RSK ortholog in Drosophila results in a variety of learning and memory defects. However, overall brain structure in these animals is not affected, leaving open the question of the pathophysiological consequences. Using the fly neuromuscular system as a model for excitatory glutamatergic synapses, we show that removal of RSK function causes distinct defects in motoneurons and at the neuromuscular junction. Based on histochemical and electrophysiological analyses, we conclude that RSK is required for normal synaptic morphology and function. Furthermore, loss of RSK function interferes with ERK signaling at different levels. Elevated ERK activity was evident in the somata of motoneurons, whereas decreased ERK activity was observed in axons and the presynapse. In addition, we uncovered a novel function of RSK in anterograde axonal transport. Our results emphasize the importance of fine-tuning ERK activity in neuronal processes underlying higher brain functions. In this context, RSK acts as a modulator of ERK signaling.


Assuntos
Transporte Axonal , Axônios/enzimologia , Síndrome de Coffin-Lowry/enzimologia , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/enzimologia , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Neurônios Motores/enzimologia , Junção Neuromuscular/enzimologia , Proteínas Quinases S6 Ribossômicas 90-kDa/metabolismo , Transmissão Sináptica , Animais , Axônios/patologia , Síndrome de Coffin-Lowry/genética , Síndrome de Coffin-Lowry/patologia , Modelos Animais de Doenças , Regulação para Baixo , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Potenciais Pós-Sinápticos Excitadores , Predisposição Genética para Doença , Potenciais Pós-Sinápticos em Miniatura , Mitocôndrias/enzimologia , Neurônios Motores/patologia , Junção Neuromuscular/patologia , Plasticidade Neuronal , Fenótipo , Terminações Pré-Sinápticas/enzimologia , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Fatores de Tempo
4.
Proc Natl Acad Sci U S A ; 110(13): 4986-91, 2013 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-23457265

RESUMO

Mutations in the Tar DNA binding protein of 43 kDa (TDP-43; TARDBP) are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43(+) inclusions (FTLD-TDP). To determine the physiological function of TDP-43, we knocked out zebrafish Tardbp and its paralogue Tardbp (TAR DNA binding protein-like), which lacks the glycine-rich domain where ALS- and FTLD-TDP-associated mutations cluster. tardbp mutants show no phenotype, a result of compensation by a unique splice variant of tardbpl that additionally contains a C-terminal elongation highly homologous to the glycine-rich domain of tardbp. Double-homozygous mutants of tardbp and tardbpl show muscle degeneration, strongly reduced blood circulation, mispatterning of vessels, impaired spinal motor neuron axon outgrowth, and early death. In double mutants the muscle-specific actin binding protein Filamin Ca is up-regulated. Strikingly, Filamin C is similarly increased in the frontal cortex of FTLD-TDP patients, suggesting aberrant expression in smooth muscle cells and TDP-43 loss-of-function as one underlying disease mechanism.


Assuntos
Axônios/metabolismo , Proteínas de Ligação a DNA , Neurônios Motores/metabolismo , Atrofia Muscular/metabolismo , Mutação , Doenças Vasculares/metabolismo , Proteínas de Peixe-Zebra/metabolismo , Peixe-Zebra/metabolismo , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/metabolismo , Esclerose Lateral Amiotrófica/patologia , Animais , Axônios/patologia , Proteínas Contráteis/genética , Proteínas Contráteis/metabolismo , Filaminas , Humanos , Proteínas dos Microfilamentos/genética , Proteínas dos Microfilamentos/metabolismo , Neurônios Motores/patologia , Atrofia Muscular/genética , Atrofia Muscular/patologia , Estrutura Terciária de Proteína , Doenças Vasculares/genética , Doenças Vasculares/patologia , Proteínas de Peixe-Zebra/genética
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