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To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction.
But aphasics, as such patients are called, often vary in the extent of speech dysfunction.
As can be seen, patients report an increase in speech dysfunction between baseline and one month on all subscales.
Two individuals had speech dysfunction, with one individual developing slurred speech 6 years after the onset of disease, and the other showing a progressive reduction in speech volume after 3 years.
The causes of disability included visual impairment, hearing impairment, speech dysfunction, motor dysfunction, mental intellectual impairments, vital organ impairment, facial damage, dementia, autism, chronic mental disease, and rare disease.
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One domain that should allow for online, at a distance, examination is speech and language dysfunction, if the auditory and visual transmission is of sufficient quality to allow adequate patient participation and reliable, valid interpretation of signs and symptoms (Duffy et al 1997).
Language dysfunction?
Lack of coordinated movement, poor balance, and unclear speech imply dysfunction of the cerebellum, which is known to be reduced in volume in DS.
The best known example of these defects is Angelman syndrome characterised by intellectual disability, absence of speech, motor dysfunction and seizures (MIM 105830) caused by loss of function of the imprinted gene UBE3A (ubiquitin protein ligase E3A) [ 10, 11].
A new report has documented that a single dose of perispinal etanercept produced an immediate, profound, and sustained improvement in expressive aphasia, speech apraxia, cognitive dysfunction, and left hemiparesis in a patient with chronic, intractable, debilitating neurological dysfunction present for more than 3 years after acute brain injury [ 11].
Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion.
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CEO of Professional Science Editing for Scientists @ prosciediting.com