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

Adolescent Adult Biomarkers Deglutition Disorders / etiology Disease Progression Female Humans Male Middle Aged Quality of Life Speech Articulation Tests Speech Disorders / etiology Spinocerebellar Ataxias / complications Young Adult

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
14 07 2020
Historique:
received: 31 07 2019
accepted: 17 12 2019
pubmed: 13 6 2020
medline: 2 10 2020
entrez: 13 6 2020
Statut: ppublish

Résumé

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. Forty-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. Reduced 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. Speech 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.

Identifiants

DOI: 10.1212/WNL.0000000000009776 PMID: 32527970
pubmed: 32527970
pii: WNL.0000000000009776
doi: 10.1212/WNL.0000000000009776
doi:

Substances chimiques

Biomarkers 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e194-e205

Informations de copyright

© 2020 American Academy of Neurology.

Auteurs

Adam P Vogel (AP)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany. vogela@unimelb.edu.au.
ORCID: 0000-0002-3505-2631

Michelle Magee (M)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.
ORCID: 0000-0001-6642-0882

Reidenis Torres-Vega (R)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Jacqueline Medrano-Montero (J)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Melissa P Cyngler (MP)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Megan Kruse (M)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Sandra Rojas (S)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Sebastian Contreras Cubillos (SC)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Tamara Canento (T)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Fernanda Maldonado (F)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Yaimee Vazquez-Mojena (Y)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Winfried Ilg (W)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Roberto Rodríguez-Labrada (R)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.

Luis Velázquez-Pérez (L)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.
ORCID: 0000-0003-1628-2703

Matthis Synofzik (M)

From the Centre for Neuroscience of Speech (A.P.V., M.M., M.P.C., M.K., S.R., T.C., F.M.), The University of Melbourne, Victoria, Australia; Department of Neurodegeneration (A.P.V., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; Center for Neurology (A.P.V., W.I., M.S.), University Hospital Tübingen, Germany; Redenlab (A.P.V.), Melbourne, Australia; Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH) (R.T.-V., J.M.-M., Y.V.-M., R.R.-L., L.V.-P.), Holguin, Cuba; Escuela de Fonoaudiologia (S.C.C.), Facultad de Salud, Universidad Santo Tomas, Talca; Physical Medicine & Rehabilitation Service, Speech Therapy Unit (S.C.C.), Hospital of Curico, Chile; and German Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany.
ORCID: 0000-0002-2280-7273

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Maladies oto-rhino-laryngologiques › Maladies du pharynx › Troubles de la déglutition › Features of speech and swallowing dysfunction...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Évolution de la maladie › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Mesures épidémiologiques › Démographie › État de santé › Qualité de vie › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Mesures de production de la parole › Tests d'élocution › Features of speech and swallowing dysfunction...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles du langage › Troubles de la parole › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › Ataxies spinocérébelleuses › Features of speech and swallowing dysfunction...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Features of speech and swallowing dysfunction...