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000140167 1001_ $$0P:(DE-HGF)0$$aVogel, Adam P$$b0$$eCorresponding author
000140167 245__ $$aCoordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
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000140167 520__ $$aAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. A comprehensive quantitative and qualitative characterization of speech and swallowing function will support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management.11 consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts. A comprehensive behavioural assessment including objective acoustic analysis and expert perceptual ratings of motor speech, the Clinical Assessment of Dysphagia in Neurodegeneration (CADN), videofluoroscopy and standardized tests of dysarthria and swallowing related quality of life was conducted.Speech in this ARSACS cohort is characterized by pitch breaks, prosodic deficits including reduced rate and prolonged intervals, and articulatory deficits. The swallowing profile was characterized by delayed initiation of the swallowing reflex and late epiglottic closure. Four out of ten patients were observed aspirating thin liquids on videofluoroscopy. Patients report that they regularly cough or choke on thin liquids and solids during mealtimes. Swallowing and speech-related quality of life was worse than healthy controls on all domains except sleep.The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordination and timing. Dysphagia contributes to a significant impairment in functional quality of life in ARSACS, and appears to manifest distinctly from other ARSACS dysfunctions such as ataxia or spasticity.
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000140167 650_2 $$2MeSH$$aAdolescent
000140167 650_2 $$2MeSH$$aAdult
000140167 650_2 $$2MeSH$$aChild
000140167 650_2 $$2MeSH$$aDeglutition
000140167 650_2 $$2MeSH$$aDeglutition Disorders: diagnostic imaging
000140167 650_2 $$2MeSH$$aDeglutition Disorders: etiology
000140167 650_2 $$2MeSH$$aDeglutition Disorders: physiopathology
000140167 650_2 $$2MeSH$$aFemale
000140167 650_2 $$2MeSH$$aHumans
000140167 650_2 $$2MeSH$$aMale
000140167 650_2 $$2MeSH$$aMiddle Aged
000140167 650_2 $$2MeSH$$aMuscle Spasticity: diagnostic imaging
000140167 650_2 $$2MeSH$$aMuscle Spasticity: physiopathology
000140167 650_2 $$2MeSH$$aMuscle Spasticity: therapy
000140167 650_2 $$2MeSH$$aQualitative Research
000140167 650_2 $$2MeSH$$aQuality of Life
000140167 650_2 $$2MeSH$$aSpeech
000140167 650_2 $$2MeSH$$aSpeech Disorders: diagnostic imaging
000140167 650_2 $$2MeSH$$aSpeech Disorders: etiology
000140167 650_2 $$2MeSH$$aSpeech Disorders: physiopathology
000140167 650_2 $$2MeSH$$aSpinocerebellar Ataxias: congenital
000140167 650_2 $$2MeSH$$aSpinocerebellar Ataxias: diagnostic imaging
000140167 650_2 $$2MeSH$$aSpinocerebellar Ataxias: physiopathology
000140167 650_2 $$2MeSH$$aSpinocerebellar Ataxias: therapy
000140167 650_2 $$2MeSH$$aTime Factors
000140167 650_2 $$2MeSH$$aYoung Adult
000140167 7001_ $$aRommel, Natalie$$b1
000140167 7001_ $$aOettinger, Andreas$$b2
000140167 7001_ $$aStoll, Lisa H$$b3
000140167 7001_ $$aKraus, Eva-Maria$$b4
000140167 7001_ $$aGagnon, Cynthia$$b5
000140167 7001_ $$aHorger, Marius$$b6
000140167 7001_ $$aKrumm, Patrick$$b7
000140167 7001_ $$aTimmann, Dagmar$$b8
000140167 7001_ $$aStorey, Elsdon$$b9
000140167 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b10$$udzne
000140167 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b11$$eLast author$$udzne
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