TY - JOUR
T1 - Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2
AU - Vogel, Adam P.
AU - Magee, Michelle
AU - Torres-Vega, Reidenis
AU - Medrano-Montero, Jacqueline
AU - Cyngler, Melissa P.
AU - Kruse, Megan
AU - Rojas, Sandra
AU - Cubillos, Sebastian Contreras
AU - Canento, Tamara
AU - Maldonado, Fernanda
AU - Vazquez-Mojena, Yaimee
AU - Ilg, Winfried
AU - Rodríguez-Labrada, Roberto
AU - Velázquez-Pérez, Luis
AU - Synofzik, Matthis
N1 - Publisher Copyright:
© American Academy of Neurology.
PY - 2020/7/14
Y1 - 2020/7/14
N2 - Objective To 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.
AB - Objective To 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.
UR - http://www.scopus.com/inward/record.url?scp=85088177939&partnerID=8YFLogxK
U2 - 10.1212/WNL.0000000000009776
DO - 10.1212/WNL.0000000000009776
M3 - Article
C2 - 32527970
AN - SCOPUS:85088177939
SN - 0028-3878
VL - 95
SP - E194-E205
JO - Neurology
JF - Neurology
IS - 2
ER -