Session Information
Date: Sunday, October 7, 2018
Session Title: Ataxia
Session Time: 1:45pm-3:15pm
Location: Hall 3FG
Objective: To provide a comprehensive quantitative and qualitative characterization of speech and swallowing function in ARSACS to support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management.
Background: Autosomal 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.
Methods: 11 consecutive patients with ARSACS and controls were recruited. A comprehensive behavioral 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.
Results: Speech in ARSACS 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.
Conclusions: The dysphagia and dysarthria profile of ARSACS is symptomatic of 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 like ataxia or spasticity.
To cite this abstract in AMA style:
A. Vogel, N. Rommel, A. Oettinger, L. Stoll, E-M. Kraus, C. Gagnon, P. Krumm, M. Horger, D. Timmann, E. Storey, L. Schöls, M. Synofzik. Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/motor-speech-and-swallowing-phenotype-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs/. Accessed May 15, 2025.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/motor-speech-and-swallowing-phenotype-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs/