The Cerebellum

, Volume 12, Issue 4, pp 475–484 | Cite as

Friedreich Ataxia: Dysarthria Profile and Clinical Data

  • Bettina Brendel
  • Hermann Ackermann
  • Daniela Berg
  • Tobias Lindig
  • Theresa Schölderle
  • Ludger Schöls
  • Matthis Synofzik
  • Wolfram Ziegler
Original Paper

Abstract

Friedreich ataxia (FRDA) is the most frequent recessive ataxia in the Western world. Dysarthria is a cardinal feature of FRDA, often leading to severe impairments in daily functioning, but its exact characteristics are only poorly understood so far. We performed a comprehensive evaluation of dysarthria severity and the profile of speech motor deficits in 20 patients with a genetic diagnosis of FRDA based on a carefully selected battery of speaking tasks and two widely used paraspeech tasks, i.e., oral diadochokinesis and sustained vowel productions. Perceptual ratings of the speech samples identified respiration, voice quality, voice instability, articulation, and tempo as the most affected speech dimensions. Whereas vocal instability predicted ataxia severity, tempo turned out as a significant correlate of disease duration. Furthermore, articulation predicted the overall intelligibility score as determined by a systematic speech pathology assessment tool. In contrast, neurologists’ ratings of intelligibility—a component of the “Scale for the Assessment and Rating of Ataxia”—were found to be related to perceived speech tempo. Obviously, clinicians are more sensitive to slowness of speech than to any other feature of spoken language during dysarthria evaluation. Our results suggest that different components of speech production and trunk/limb motor functions are differentially susceptible to FRDA pathology. Furthermore, evidence emerged that paraspeech tasks do not allow for an adequate scaling of speech deficits in FRDA.

Keywords

Friedreich ataxia Ataxia score Dysarthria Intelligibility Dysarthria severity 

Abbreviation

BoDyS

Bogenhausen Dysarthria Scales

BoDyS

Speech dimensions

RSP

Respiration

VQL

Voice quality

VST

Voice stability

ART

Articulation

TEM

Tempo

VPL

Vocal pitch/loudness

FLU

Speech fluency

MOD

Prosodic modulation

NRS

Nasal resonance

DDK

Oral diadochokinesis

FRDA

Friedreich ataxia

MVP

Munich intelligibility profile

PVC

Pitch variation coefficient

SARA

Scale for the assessment and rating of ataxia

SVP

Sustained vowel production

TCS

Transcranial sonography

Supplementary material

12311_2012_440_MOESM1_ESM.doc (38 kb)
ESM 1(DOC 37.5 kb)

References

  1. 1.
    Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nature Rev Neurol. 2009;5:222–34.CrossRefGoogle Scholar
  2. 2.
    Taroni F, DiDonato S. Pathways to motor incoordination: the inherited ataxias. Nature Rev Neurosci. 2004;5:641–55.CrossRefGoogle Scholar
  3. 3.
    Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256 Suppl 1:3–8.PubMedCrossRefGoogle Scholar
  4. 4.
    Schöls L, Amoiridis G, Przuntek H, et al. Friedreich's ataxia—revision of the phenotype according to molecular genetics. Brain. 1997;120:2131–40.PubMedCrossRefGoogle Scholar
  5. 5.
    Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. J Med Genet. 2000;37:1–8.PubMedCrossRefGoogle Scholar
  6. 6.
    Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia. Phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005;62:1865–9.PubMedCrossRefGoogle Scholar
  7. 7.
    Della Nave R, Ginestroni A, Giannelli M, et al. Brain structural damage in Friedreich’s ataxia. J Neurol Neurosurg Psychiatry. 2008;79:82–5.PubMedCrossRefGoogle Scholar
  8. 8.
    Della Nave R, Ginestroni A, Tessa C, et al. Brain white matter tracts degeneration in Friedreich ataxia: an in vivo MRI study using tract-based spatial statistics and voxel-based morphometry. NeuroImage. 2008;40:19–25.PubMedCrossRefGoogle Scholar
  9. 9.
    Synofzik M, Godau J, Lindig T, et al. Transcranial sonography reveals cerebellar, nigral, and forebrain abnormalities in Friedreich’s ataxia. Neurodegener Dis. 2011;8:470–5.PubMedCrossRefGoogle Scholar
  10. 10.
    Koeppen AH, Davis AN, Morral JA. The cerebellar component of Friedreich's ataxia. Acta Neuropathol. 2011;122:323–30.PubMedCrossRefGoogle Scholar
  11. 11.
    Harding AE. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104:589–620.PubMedCrossRefGoogle Scholar
  12. 12.
    Ackermann H, Ziegler W. Cerebellar dysarthria—a review [German]. Fortschr Neurol Psychiatr. 1992;60:28–40.PubMedCrossRefGoogle Scholar
  13. 13.
    Dürr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335:1169–75.PubMedCrossRefGoogle Scholar
  14. 14.
    Delatycki MB, Paris DBBP, McKinlay Gardner RJ, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999;87:168–74.PubMedCrossRefGoogle Scholar
  15. 15.
    Joanette Y, Dudley JG. Dysarthric symptomatology of Friedreich’s ataxia. Brain Lang. 1980;10:39–50.PubMedCrossRefGoogle Scholar
  16. 16.
    Folker JE, Murdoch BE, Cahill LM, et al. Dysarthria in Friedreich’s ataxia: a perceptual analysis. Folia Phoniatr Logop. 2010;62:97–103.PubMedCrossRefGoogle Scholar
  17. 17.
    Singh A, Epstein E, Myers LM, et al. Clinical measures of dysarthria in Friedreich’s ataxia. Mov Disord. 2010;25:108–11.PubMedCrossRefGoogle Scholar
  18. 18.
    Eigentler A, Rhomberg J, Nachbauer W, et al. The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich’s ataxia. J Neurol. 2012;259:420–6.PubMedCrossRefGoogle Scholar
  19. 19.
    Gentil M. Dysarthria in Friedreich disease. Brain Lang. 1990;38:438–48.PubMedCrossRefGoogle Scholar
  20. 20.
    Ackermann H, Hertrich I. Dysarthria in Friedreich’s ataxia: timing of speech segments. Clin Linguist Phonet. 1993;7:75–91.CrossRefGoogle Scholar
  21. 21.
    Ackermann H, Hertrich I. Speech rate and rhythm in cerebellar dysarthria—an acoustic analysis of syllabic timing. Folia Phoniatr Logop. 1994;46:70–8.PubMedCrossRefGoogle Scholar
  22. 22.
    Ziegler W, Wessel K. Speech timing in ataxic disorders: sentence production and rapid repetitive articulation. Neurology. 1996;47:208–14.PubMedCrossRefGoogle Scholar
  23. 23.
    Folker JE, Murdoch BE, Cahill LM, et al. Kinematic analysis of lingual movements during consonant productions in dysarthric speakers with Friedreich’s ataxia: a case-by-case analysis. Clin Linguist Phonet. 2011;25:66–79.CrossRefGoogle Scholar
  24. 24.
    Synofzik M, Srulijes K, Godau J, et al. Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum. 2012. doi:10.1007/s12311-012-0378-2.
  25. 25.
    Ziegler W. Speech motor control is task-specific. Evidence from dysarthria and apraxia of speech. Aphasiology. 2003;17:3–36.CrossRefGoogle Scholar
  26. 26.
    Bunton K. Speech versus nonspeech: different tasks. Different neural organization. Semin Speech Lang. 2008;29:267–75.PubMedCrossRefGoogle Scholar
  27. 27.
    Ziegler W. Task-related factors in oral motor control: speech and oral diadochokinesis in dysarthria and apraxia of speech. Brain Lang. 2002;80:556–75.PubMedCrossRefGoogle Scholar
  28. 28.
    Ackermann H, Ziegler W. Cerebellar voice tremor. J Neurol Neurosurg Psychiatry. 1991;54:74–6.PubMedCrossRefGoogle Scholar
  29. 29.
    Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717–20.PubMedCrossRefGoogle Scholar
  30. 30.
    Bürk K, Mälzig U, Wolf S, et al. Comparison of three clinical rating scales in Friedreich’s ataxia (FRDA). Mov Disord. 2009;24:1779–84.PubMedCrossRefGoogle Scholar
  31. 31.
    Murdoch BE, Theodoros DG. Ataxic dysarthria. In: Murdoch BE, editor. Dysarthria: a physiological approach to assessment and treatment. Cheltenham: Stanley Thornes; 1998. p. 242–65.Google Scholar
  32. 32.
    Ziegler W, Zierdt A. Telediagnostic assessment of intelligibility in dysarthria: a pilot investigation of MVP-Online. J Commun Dis. 2008;41:553–77.CrossRefGoogle Scholar
  33. 33.
    Nicola F, Ziegler W, Vogel M. The Bogenhausener Dysarthria Scales (BODYS): an instrument for clinical diagnostic of dysarthria [German]. Forum Logopädie. 2004;18:14–22.Google Scholar
  34. 34.
    Ackermann H, Hertrich I, Ziegler W. Dysarthria. In: Damico JS, Müller N, Ball MJ, editors. The handbook of language and speech disorders. Hoboken: Wiley-Blackwell; 2010. pp. 362–390.Google Scholar
  35. 35.
    Levelt WJM. Speaking. From intention to articulation. Cambridge: MIT; 1989.Google Scholar
  36. 36.
    Kent RD, Kent JF, Weismer G, Duffy JR. What dysarthrias can tell us about the neural control of speech. J Phon. 2000;28:273–302.CrossRefGoogle Scholar
  37. 37.
    Ackermann H, Ziegler W. Acoustic analysis of vocal instability in cerebellar dysfunction. Ann Otol Rhinol Laryngol. 1994;103:98–104.PubMedGoogle Scholar
  38. 38.
    Ackermann H, Hertrich I, Hehr T. Oral diadochokinesis in neurological dysarthrias. Folia Phoniatr Logop. 1995;47:15–23.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Bettina Brendel
    • 1
  • Hermann Ackermann
    • 1
  • Daniela Berg
    • 2
    • 3
  • Tobias Lindig
    • 2
    • 4
  • Theresa Schölderle
    • 5
  • Ludger Schöls
    • 2
    • 3
  • Matthis Synofzik
    • 2
    • 3
  • Wolfram Ziegler
    • 5
  1. 1.Department of General Neurology, Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  2. 2.Department of Neurodegeneration, Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  3. 3.German Research Center for Neurodegenerative Diseases (DZNE)TübingenGermany
  4. 4.Department of NeuroradiologyUniversity of TübingenTübingenGermany
  5. 5.Clinical Neuropsychology Research Group (EKN)City-Hospital Munich-BogenhausenMunichGermany

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