SciCombinator

Discover the most talked about and latest scientific content & concepts.

Concept: Dysarthria

157

Phase 3 trials supporting dextromethorphan/quinidine (DM/Q) use as a treatment for pseudobulbar affect (PBA) were conducted in patients with amyotrophic lateral sclerosis (ALS) or multiple sclerosis (MS). The PRISM II study provides additional DM/Q experience with PBA secondary to dementia, stroke, or traumatic brain injury (TBI).

Concepts: Stroke, Excitotoxicity, Minocycline, Dysarthria, Jean-Martin Charcot, Multiple sclerosis, Amyotrophic lateral sclerosis, Traumatic brain injury

27

Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant cerebellar ataxias clinically characterized by progressive ataxia, dysarthria and a range of other concomitant neurological symptoms. Only a few studies include detailed characterization of speech symptoms in SCA. Speech symptoms in SCA resemble ataxic dysarthria but symptoms related to phonation may be more prominent. One study to date has shown an association between differences in speech and voice symptoms related to genotype. More studies of speech and voice phenotypes are motivated, to possibly aid in clinical diagnosis. In addition, instrumental speech analysis has been demonstrated to be a reliable measure that may be used to monitor disease progression or therapy outcomes in possible future pharmacological treatments. Intervention by speech and language pathologists should go beyond assessment. Clinical guidelines for management of speech, communication and swallowing need to be developed for individuals with progressive cerebellar ataxia.

Concepts: Dysarthria, Systemic atrophies primarily affecting the central nervous system, Cerebellar ataxia, Greek loanwords, Central nervous system, Medicine, Spinocerebellar ataxia, Ataxia

13

To investigate whether chronic traumatic encephalopathy (CTE) and CTE with amyotrophic lateral sclerosis (CTE-ALS) exhibit features previously observed in other tauopathies of pathologic phosphorylation of microtubule-associated protein tau at Thr175 (pThr175 tau) and Thr231 (pThr231 tau), and glycogen synthase kinase-3β (GSK3β) activation, and whether these pathologic features are a consequence of traumatic brain injury (TBI).

Concepts: Lou Gehrig, Excitotoxicity, Dysarthria, Proteopathy, Tau protein, Amyotrophic lateral sclerosis, Traumatic brain injury

3

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder of the upper and lower motor neurons, characterized by rapid progressive weakness, muscle atrophy, dysarthria, dysphagia, and dyspnea. Whereas the exact cause of ALS remains uncertain, the wobbler mouse (phenotype WR; genotype wr/wr) equally develops a progressive degeneration of motor neurons in the spinal cord and motor cortex with striking similarities to sporadic human ALS, suggesting the possibility of a common pathway to cell death.

Concepts: Alpha motor neuron, Gene, Stephen Hawking, Dysarthria, Neuron, Spinal cord, Atrophy, Amyotrophic lateral sclerosis

1

To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech.

Concepts: Stroke, Qualitative research, Communication disorders, Traumatic brain injury, Dysarthria, Neurological disorders, Apraxia, Aphasia

1

Our purpose was to create a comprehensive review of speech impairment in frontotemporal dementia (FTD), primary progressive aphasia (PPA), and progressive apraxia of speech in order to identify the most effective measures for diagnosis and monitoring, and to elucidate associations between speech and neuroimaging.

Concepts: Communication disorders, Neurological disorders, Aphasias, Dysarthria, Frontotemporal lobar degeneration, Apraxia, Semantic dementia, Cognitive disorders

1

SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. We confirmed absence of the SQSTM1/p62 protein in affected individuals' fibroblasts and found evidence of a defect in the early response to mitochondrial depolarization and autophagosome formation. Our findings expand the SQSTM1-associated phenotypic spectrum and lend further support to the concept of disturbed selective autophagy pathways in neurodegenerative diseases.

Concepts: Neuroscience, Dysarthria, Neurodegenerative diseases, Frontotemporal dementia, Neurodegeneration, Neurodegenerative disorders, Neurology, Amyotrophic lateral sclerosis

1

Apraxia of speech (AOS) is a motor speech disorder, which is clinically characterized by the combination of phonemic segmental changes and articulatory distortions. AOS has been believed to arise from impairment in motor speech planning/programming and differentiated from both aphasia and dysarthria. The brain regions associated with AOS are still a matter of debate. The aim of this study was to address this issue in a large number of consecutive acute ischemic stroke patients.

Concepts: Apraxia, Cerebral cortex, Aphasia, Neuroanatomy, Dysarthria, Cerebrum, Traumatic brain injury, Stroke

0

Assistive speech-based technologies can improve the quality of life for people affected with dysarthria, a motor speech disorder. In this paper, we explore multiple ways to improve Gaussian mixture model and deep neural network (DNN) based hidden Markov model (HMM) automatic speech recognition systems for TORGO dysarthric speech database. This work shows significant improvements over the previous attempts in building such systems in TORGO. We trained speaker-specific acoustic models by tuning various acoustic model parameters, using speaker normalized cepstral features and building complex DNN-HMM models with dropout and sequence-discrimination strategies. The DNN-HMM models for severe and severe-moderate dysarthric speakers were further improved by leveraging specific information from dysarthric speech to DNN models trained on audio files from both dysarthric and normal speech, using generalized distillation framework. To the best of our knowledge, this paper presents the best recognition accuracies for TORGO database till date.

Concepts: Acoustic Model, Mixture model, Hidden Markov model, Computational linguistics, Better, Dysarthria, Improve, Speech recognition

0

The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years.

Concepts: Lou Gehrig, Dysarthria, Atrophy, Amyotrophic lateral sclerosis