Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

Autor: Sebastian Contreras Cubillos, Roberto Rodríguez-Labrada, Matthis Synofzik, Tamara Canento, Winfried Ilg, Jacqueline Medrano-Montero, Yaimeé Vázquez-Mojena, Sandra Rojas, Luis Velázquez-Pérez, Melissa P. Cyngler, Fernanda Maldonado, Reidenis Torres-Vega, Megan Kruse, Michelle Magee, Adam P. Vogel
Rok vydání: 2020
Předmět:
Adult
Male
medicine.medical_specialty
Ataxia
Adolescent
physiopathology [Deglutition Disorders]
physiopathology [Speech Disorders]
physiopathology [Spinocerebellar Ataxias]
Disease
Audiology
Speech Disorders
psychology [Spinocerebellar Ataxias]
Young Adult
03 medical and health sciences
Dysarthria
0302 clinical medicine
Quality of life
Swallowing
otorhinolaryngologic diseases
medicine
Humans
Spinocerebellar Ataxias
ddc:610
Young adult
030223 otorhinolaryngology
complications [Spinocerebellar Ataxias]
business.industry
Middle Aged
medicine.disease
Dysphagia
Speech Articulation Tests
etiology [Speech Disorders]
psychology [Speech Disorders]
psychology [Deglutition Disorders]
Disease Progression
Quality of Life
Spinocerebellar ataxia
Female
Neurology (clinical)
medicine.symptom
Deglutition Disorders
business
Biomarkers
030217 neurology & neurosurgery
etiology [Deglutition Disorders]
Zdroj: Neurology 95(2), e194-e205 (2020). doi:10.1212/WNL.0000000000009776
ISSN: 1526-632X
0028-3878
DOI: 10.1212/wnl.0000000000009776
Popis: ObjectiveTo determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers.MethodsForty-six individuals (16 with pre-ataxic SCA2, 14 with early-stage ataxic SCA2, and 16 healthy controls) were recruited in Holguin, Cuba. All participants underwent a comprehensive battery of assessments including objective acoustic analysis, clinician-derived ratings of speech function and swallowing, and quality of life assessments of swallowing.ResultsReduced speech agility manifest at the pre-ataxic stage was observed during diadochokinetic tasks, with the magnitude of speech deficit augmented in the early ataxic stage. Speech rate was slower in early-stage ataxic SCA2 compared with pre-ataxic SCA2 and healthy controls. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset, verifying that speech deficits occur prior to ataxia onset and increase in severity as the disease progresses. Whereas dysphagia was observed in both pre-ataxic and ataxic SCA2, it was not associated with swallowing-related quality of life, disease severity, or time to ataxia onset.ConclusionsSpeech and swallowing deficits appear sensitive to disease progression in early-stage SCA2, with syllabic rate a viable marker. Findings provide insight into mechanisms of disease progression in early-stage SCA2, signaling an opportunity for stratifying early-stage SCA2 and identifying salient markers of disease onset as well as outcome measures in future early-stage therapeutic studies.
Databáze: OpenAIRE
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