Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old, right-handed girl developed a conduction-type aphasia following a second generalized seizure in the setting of a developing abscess involving left subcortical and cortical angular gyrus and arcuate fasciculus, and the posterior corpus callosum. The language disorder was fluent, characterized by age appropriate mean length of utterance and syntax, but with markedly reduced spontaneity of output, rapid rate of speech and mild dysarthria. Comprehension was relatively, but not completely spared. Naming, repetition, and reading (letters) were initially markedly impaired. Improvements in naming and repetition were associated with both literal and semantic paraphasias. Writing skills in the form of drawing were spared, but a mild apraxia to verbal command and imitation was initially present. Despite her young age, this child's fluent conduction aphasia and lesion localization were adult-like. Multimodal memory difficulties appeared to underlie what is best described as conduction aphasia.
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PMID:Conduction aphasia in a 3-year-old with a left posterior cortical/subcortical abscess. 957 Aug 80

We report a 71-year-old woman showing rapidly progressive non-fluent aphasia and dementia accompanied by motor neuron disease (MND). There was no family history of dementia or motor neuron disease. There was 10 months history of dysarthria and dysphagia. On examination, she showed profound difficulty in articulation. Her comprehension was impaired in that she was unable to obey three-stage command. Her written language was also impaired with phonological spelling errors, syntactic errors, and perseveration. Neuroradiological investigations showed atrophic changes and hypoperfusion of left temporal and bilateral parietal region revealed by MRI and SPECT, respectively. Her subsequent decline was rapid. It might be likely that aphasia is much more common in dementia with bulbar MND than is currently recognized because bulbar palsy might mask the language disorder.
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PMID:[A case of motor neuron disease with progressive aphasia and dementia]. 1235 85

Apraxia of speech is a disorder of speech motor planning and/or programming that is distinguishable from aphasia and dysarthria. It most commonly results from vascular insults but can occur in degenerative diseases where it has typically been subsumed under aphasia, or it occurs in the context of more widespread neurodegeneration. The aim of this study was to determine whether apraxia of speech can present as an isolated sign of neurodegenerative disease. Between July 2010 and July 2011, 37 subjects with a neurodegenerative speech and language disorder were prospectively recruited and underwent detailed speech and language, neurological, neuropsychological and neuroimaging testing. The neuroimaging battery included 3.0 tesla volumetric head magnetic resonance imaging, [(18)F]-fluorodeoxyglucose and [(11)C] Pittsburg compound B positron emission tomography scanning. Twelve subjects were identified as having apraxia of speech without any signs of aphasia based on a comprehensive battery of language tests; hence, none met criteria for primary progressive aphasia. These subjects with primary progressive apraxia of speech included eight females and four males, with a mean age of onset of 73 years (range: 49-82). There were no specific additional shared patterns of neurological or neuropsychological impairment in the subjects with primary progressive apraxia of speech, but there was individual variability. Some subjects, for example, had mild features of behavioural change, executive dysfunction, limb apraxia or Parkinsonism. Voxel-based morphometry of grey matter revealed focal atrophy of superior lateral premotor cortex and supplementary motor area. Voxel-based morphometry of white matter showed volume loss in these same regions but with extension of loss involving the inferior premotor cortex and body of the corpus callosum. These same areas of white matter loss were observed with diffusion tensor imaging analysis, which also demonstrated reduced fractional anisotropy and increased mean diffusivity of the superior longitudinal fasciculus, particularly the premotor components. Statistical parametric mapping of the [(18)F]-fluorodeoxyglucose positron emission tomography scans revealed focal hypometabolism of superior lateral premotor cortex and supplementary motor area, although there was some variability across subjects noted with CortexID analysis. [(11)C]-Pittsburg compound B positron emission tomography binding was increased in only one of the 12 subjects, although it was unclear whether the increase was actually related to the primary progressive apraxia of speech. A syndrome characterized by progressive pure apraxia of speech clearly exists, with a neuroanatomic correlate of superior lateral premotor and supplementary motor atrophy, making this syndrome distinct from primary progressive aphasia.
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PMID:Characterizing a neurodegenerative syndrome: primary progressive apraxia of speech. 2238 56

The aim of the study was to determine the incidence and types of speech disorders in patients with acute stroke. The study was performed in 936 acute stroke patients admitted to University Department of Neurology, Tuzla University Clinical Center, in the period from January 1, 2007 through December 31, 2008. Out of 936 study patients, speech disorders were verified on admission in 771 (82.37%) patients. Dysarthria was present in 540 (57.69%) and aphasia in 231 (24.67%) patients. In the group with speech disturbances, dysarthria was present in 70.04% and aphasia in 29.96% of patients. During hospital stay, lethal outcome was recorded in 51 patients, significantly higher in the group with speech disorders (P = 0.004). At discharge from the hospital, speech disorders persisted in 671 (75.81%), dysarthria in 468 (69.75%), and different types of aphasia in 203 (30.25%) of 885 surviving patients. Among patients with aphasia at both admission and discharge, global aphasia was most common, followed by motor aphasia (Broca's aphasia) and nominal aphasia. Although the rate of patients with speech disorders was lower at discharge, the difference was not statistically significant. On admission, 82.37% of patients were considered to have a speech-language disorder, dysarthria being most common. Concerning the type of aphasia, global aphasia was most frequent. Study results suggested the importance and need of speech-language therapy in the early rehabilitation of post-stroke patients; it should be initiated during their hospital stay and continued at long-term.
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PMID:Incidence and types of speech disorders in stroke patients. 2264 78

7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.
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PMID:Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. 2275 4

Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was FOXP2, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with FOXP2 mutations have been reported. These mutations include sequencing alterations, translocations, uniparental disomy, and genomic copy number variants. We studied eight probands with speech disorder and their families. Family members were phenotyped using a comprehensive assessment of speech, oral motor function, language, literacy skills, and cognition. Coding regions of FOXP2 were screened to identify novel variants. Segregation of the variant was determined in the probands' families. Variants were identified in two probands. One child with severe motor speech disorder had a small de novo intragenic FOXP2 deletion. His phenotype included features of childhood apraxia of speech and dysarthria, oral motor dyspraxia, receptive and expressive language disorder, and literacy difficulties. The other variant was found in a family in two of three family members with stuttering, and also in the mother with oral motor impairment. This variant was considered a benign polymorphism as it was predicted to be non-pathogenic with in silico tools and found in database controls. This is the first report of a small intragenic deletion of FOXP2 that is likely to be the cause of severe motor speech disorder associated with language and literacy problems.
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PMID:Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. 2391 46