Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS.

We aimed to provide proof-of-principle evidence that intensive home-based speech treatment can improve dysarthria in complex multisystemic degenerative ataxias, exemplified by autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS). Feasibility and piloting efficacy of speech training specifically tailored to cerebellar dysarthria was examined through a 4-week program in seven patients with rater-blinded assessment of intelligibility (primary outcome) and naturalness and acoustic measures of speech (secondary outcomes) performed 4 weeks before, immediately prior to, and directly after training (intraindividual control design). Speech intelligibility and naturalness improved post treatment. This provides piloting evidence that ataxia-tailored speech treatment might be effective in degenerative cerebellar disease.

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

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consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts.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

Validation and Psychometric Properties of the German Version of the SWAL-QOL.

The SWAL-QOL questionnaire is a common tool for evaluating patients' dysphagia-specific quality of life. A validated German version is not available. This study aimed to establish a German version of the SWAL-QOL (G-SWAL-QOL) using a standardized translation procedure and to systematically evaluate its psychometric properties. The original SWAL-QOL was translated into German following international translation guidelines. A pilot study (45 subjects) confirmed comprehensibility of the G-SWAL-QOL. A consecutive series of 158 subjects (103 patients with dysphagia; 55 healthy controls) was then recruited to assess validity and reliability of the G-SWAL-QOL. Construct validity was analyzed through a correlation analysis with both (i) the Anderson Dysphagia Inventory (ADI-D) and (ii) the Short Form 36 (SF-36). Internal consistency and test-retest reliability were evaluated to determine reliability. All questions of the G-SWAL-QOL were comprehensible, except one which was subsequently revised. Construct validity of the G-SWAL-QOL was demonstrated by moderate to high correlations with the ADI-D (Spearman's rho 0.36 - 0.88). The G-SWAL-QOL was able to differentiate between patients with dysphagia and healthy controls (p < 0.001) and was sensitive to disease severity measured by different food textures. Reliability of the G-SWAL-QOL was good to excellent for both internal consistency (Cronbach's α > 0.7 for all domains, except eating desire [α = 0.69]) and test-retest reliability (Spearman's rho ≥ 0.68 for all domains; ICC > 0.8 for all domains). The G-SWAL-QOL is a valid and reliable measuring tool for dysphagia-specific quality of life in German-speaking persons.