TY  - JOUR
AU  - Vogel, Adam P
AU  - Rommel, Natalie
AU  - Oettinger, Andreas
AU  - Stoll, Lisa H
AU  - Kraus, Eva-Maria
AU  - Gagnon, Cynthia
AU  - Horger, Marius
AU  - Krumm, Patrick
AU  - Timmann, Dagmar
AU  - Storey, Elsdon
AU  - Schöls, Ludger
AU  - Synofzik, Matthis
TI  - Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
JO  - Journal of neurology
VL  - 265
IS  - 9
SN  - 0340-5354
CY  - Berlin
PB  - Springer73057
M1  - DZNE-2020-06489
SP  - 2060-2070
PY  - 2018
AB  - 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.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consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts.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.
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Deglutition
KW  - Deglutition Disorders: diagnostic imaging
KW  - Deglutition Disorders: etiology
KW  - Deglutition Disorders: physiopathology
KW  - Female
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle Spasticity: diagnostic imaging
KW  - Muscle Spasticity: physiopathology
KW  - Muscle Spasticity: therapy
KW  - Qualitative Research
KW  - Quality of Life
KW  - Speech
KW  - Speech Disorders: diagnostic imaging
KW  - Speech Disorders: etiology
KW  - Speech Disorders: physiopathology
KW  - Spinocerebellar Ataxias: congenital
KW  - Spinocerebellar Ataxias: diagnostic imaging
KW  - Spinocerebellar Ataxias: physiopathology
KW  - Spinocerebellar Ataxias: therapy
KW  - Time Factors
KW  - Young Adult
LB  - PUB:(DE-HGF)16
C6  - pmid:29968200
DO  - DOI:10.1007/s00415-018-8950-4
UR  - https://pub.dzne.de/record/140167
ER  -