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Journal of Neurology
Published in: Journal of Neurology 9/2018

01-09-2018 | Original Communication

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

Authors: Adam P. Vogel, Natalie Rommel, Andreas Oettinger, Lisa H. Stoll, Eva-Maria Kraus, Cynthia Gagnon, Marius Horger, Patrick Krumm, Dagmar Timmann, Elsdon Storey, Ludger Schöls, Matthis Synofzik

Published in: Journal of Neurology | Issue 9/2018

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Abstract

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consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts.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.

Results

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.

Conclusions

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.
Appendix
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Metadata
Title
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)
Authors
Adam P. Vogel
Natalie Rommel
Andreas Oettinger
Lisa H. Stoll
Eva-Maria Kraus
Cynthia Gagnon
Marius Horger
Patrick Krumm
Dagmar Timmann
Elsdon Storey
Ludger Schöls
Matthis Synofzik
Publication date
01-09-2018
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 9/2018
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-018-8950-4

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