Advertisement

Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy

  • Tommaso SchirinziEmail author
  • Andrea Sancesario
  • Enrico Bertini
  • Enrico Castelli
  • Gessica Vasco
Review
  • 31 Downloads

Abstract

Speech and language disorders are prominent signs in Friedreich ataxia (FRDA), which significantly impact on patients’ quality of life. Despite such relevance, several issues regarding phenomenology, assessment, and treatment are still unmet. In this short review, we thus analyzed the existing literature to summarize what is known about the features of speech and language disorders in FRDA, which methods are used for evaluation and rating, and what are the available therapeutic strategies and future direction of scientific research in this field, in order to highlight critical aspects for a better clinical approach to the problem. FRDA patients often present dysarthria, resulting from central and peripheral causes and additional primary language disorders. Speech disturbances have peculiar characteristics, although variable among patients, and progress along the disease course. Assessment relies on multiple but not specific clinical scales, some of which can also reflect the general severity of ataxia; classical instrumental investigations and novel technologies allow more accurate measurements of several speech parameters, which could found application as potential disease’s biomarkers. No successful treatments exist for communication disorders of FRDA patients; however, the tailored speech training or the non-invasive neuromodulation appear as the most reliable therapeutic options to be validate in future trials.

Keywords:

Friedreich ataxia Speech Language Voice Biomarkers 

Notes

Authors’ Contribution

EC and GV had the idea for the article; TS and AS performed the literature search and data analysis and drafted the work; GV, EC, and EB critically revised the work.

Funding Information

This study was partially funded by “Progetto di Rete NET-2013-02356160,” Italian Ministry of Health.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Reetz K, Dogan I, Hilgers R-D, Giunti P, Mariotti C, Durr A, et al. Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2-year cohort study. Lancet Neurol. 2016;15:1346–54.CrossRefGoogle Scholar
  2. 2.
    Koeppen AH, Mazurkiewicz JE. Friedreich Ataxia: Neuropathology revised. J Neuropathol Exp Neurol. 2013;72:78–90.CrossRefGoogle Scholar
  3. 3.
    Petrillo S, Piermarini E, Pastore A, Vasco G, Schirinzi T, Carrozzo R, et al. Nrf2-inducers counteract neurodegeneration in frataxin-silenced motor neurons: disclosing new therapeutic targets for Friedreich’s ataxia. Int J Mol Sci. 2017;18:2173.CrossRefGoogle Scholar
  4. 4.
    Schirinzi T, Vasco G, Zanni G, Petrillo S, Piemonte F, Castelli E, et al. Serum uric acid in Friedreich ataxia. Clin Biochem. 2018;54:139–41.CrossRefGoogle Scholar
  5. 5.
    Zesiewicz TA, Wilmot G, Kuo S-H, Perlman S, Greenstein PE, Ying SH, et al. Comprehensive systematic review summary: treatment of cerebellar motor dysfunction and ataxia. Neurology. 2018;90:464–71.CrossRefGoogle Scholar
  6. 6.
    Wilson CL, Fahey MC, Corben LA, Collins VR, Churchyard AJ, Lamont PJ, et al. Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important? Eur J Neurol. 2007;14:1040–7.CrossRefGoogle Scholar
  7. 7.
    Paulsen EK, Friedman LS, Myers LM, Lynch DR. Health-related quality of life in children with Friedreich ataxia. Pediatr Neurol. 2010;42:335–7.CrossRefGoogle Scholar
  8. 8.
    Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, et al. Health related quality of life measures in Friedreich ataxia. J Neurol Sci. 2008;272:123–8.CrossRefGoogle Scholar
  9. 9.
    Boschi V, Catricalà E, Consonni M, Chesi C, Moro A, Cappa SF. Connected speech in neurodegenerative language disorders: a review. Front Psychol. 2017;8:269.CrossRefGoogle Scholar
  10. 10.
    Neumann S, Quinting J, Rosenkranz A, de Beer C, Jonas K, Stenneken P. Quality of life in adults with neurogenic speech-language-communication difficulties: a systematic review of existing measures. J Commun Disord. 2019;79:24–45.CrossRefGoogle Scholar
  11. 11.
    Harding IH, Corben LA, Storey E, Egan GF, Stagnitti MR, Poudel GR, et al. Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study. Hum Brain Mapp. 2016;37:338–50.CrossRefGoogle Scholar
  12. 12.
    Schirinzi T, Sciamanna G, Mercuri NB, Pisani A. Dystonia as a network disorder. Curr Opin Neurol. 2018 [cited 2019 Feb 12];31:1.CrossRefGoogle Scholar
  13. 13.
    Carson C, Ryalls J, Hardin-Hollingsworth K, Le Normand M-T, Ruddy B. Acoustic analyses of prolonged vowels in young adults with Friedreich ataxia. J Voice. 2016;30:272–80.CrossRefGoogle Scholar
  14. 14.
    Folker J, Murdoch B, Cahill L, Delatycki M, Corben L, Vogel A. Dysarthria in Friedreich’s ataxia: a perceptual analysis. Folia Phoniatr Logop. 2010;62:97–103.CrossRefGoogle Scholar
  15. 15.
    Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, et al. Voice in Friedreich ataxia. J Voice. 2017 ;31:243.e9-243.e19.Google Scholar
  16. 16.
    Blaney BE, Hewlett N. Voicing status of word final plosives in Friedreich’s ataxia dysarthria. Clin Linguist Phon. 2007;21:759–69.CrossRefGoogle Scholar
  17. 17.
    Rosen KM, Folker JE, Vogel AP, Corben LA, Murdoch BE, Delatycki MB. Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint. J Neurol. 2012;259:2471–7.CrossRefGoogle Scholar
  18. 18.
    Brendel B, Ackermann H, Berg D, Lindig T, Schölderle T, Schöls L, et al. Friedreich ataxia: dysarthria profile and clinical data. Cerebellum. 2013;12:475–84.CrossRefGoogle Scholar
  19. 19.
    Vogel AP, Fletcher J, Snyder PJ, Fredrickson A, Maruff P. Reliability, stability, and sensitivity to change and impairment in acoustic measures of timing and frequency. J Voice. 2011;25:137–49.CrossRefGoogle Scholar
  20. 20.
    Eigentler A, Rhomberg J, Nachbauer W, Ritzer I, Poewe W, Boesch S. The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich’s ataxia. J Neurol. 2012;259:420–6.CrossRefGoogle Scholar
  21. 21.
    Singh A, Epstein E, Myers LM, Farmer JM, Lynch DR. Clinical measures of dysarthria in Friedreich ataxia. Mov Disord. 2010;25:108–11.CrossRefGoogle Scholar
  22. 22.
    Awan SN, Roy N, Dromey C. Estimating dysphonia severity in continuous speech: application of a multi-parameter spectral/cepstral model. Clin Linguist Phon . 2009 ;23:825–841.CrossRefGoogle Scholar
  23. 23.
    de Nóbrega E, Nieto A, Barroso J, Montón F. Differential impairment in semantic, phonemic, and action fluency performance in Friedreich’s ataxia: possible evidence of prefrontal dysfunction. J Int Neuropsychol Soc. 2007;13:944–52.CrossRefGoogle Scholar
  24. 24.
    Nieto A, Correia R, de Nóbrega E, Montón F, Hess S, Barroso J. Cognition in Friedreich ataxia. The Cerebellum. 2012;11:834–44.CrossRefGoogle Scholar
  25. 25.
    Sayah S, Rotgé J-Y, Francisque H, Gargiulo M, Czernecki V, Justo D, et al. Personality and neuropsychological profiles in Friedreich ataxia. Cerebellum. 2018;17:204–12.CrossRefGoogle Scholar
  26. 26.
    Corben LA, Klopper F, Stagnitti M, Georgiou-Karistianis N, Bradshaw JL, Rance G. et al. Measuring inhibition and cognitive flexibility in Friedreich ataxia.Google Scholar
  27. 27.
    Schirinzi T, Di Lorenzo F, Ponzo V, Palmieri MG, Bentivoglio AR, Schillaci O, et al. Mild cerebello-thalamo-cortical impairment in patients with normal dopaminergic scans (SWEDD). Parkinsonism Relat Disord. 2016;28:23–8.CrossRefGoogle Scholar
  28. 28.
    Rance G, Fava R, Baldock H, Chong A, Barker E, Corben L, et al. Speech perception ability in individuals with Friedreich ataxia. Brain. Narnia. 2008;131:2002–12.CrossRefGoogle Scholar
  29. 29.
    Vogel AP, Folker J, Poole ML. Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. Ltd: Cochrane Database Syst Rev John Wiley & Sons; 2014.CrossRefGoogle Scholar
  30. 30.
    Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014;9:184.CrossRefGoogle Scholar
  31. 31.
    Schirinzi T, Romano A, Favetta M, Sancesario A, Burattini R, Summa S, et al. Non-invasive focal mechanical vibrations delivered by wearable devices: an open-label pilot study in childhood ataxia. Front Neurol. 2018;9:849.CrossRefGoogle Scholar
  32. 32.
    Lawerman TF, Brandsma R, Burger H, Burgerhof JGM. Sival DA, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society. Age-related reference values for the pediatric scale for assessment and rating of ataxia: a multicentre study. Dev Med Child Neurol. 2017;59:1077–82.PubMedGoogle Scholar
  33. 33.
    Brandsma R, Lawerman TF, Kuiper MJ, Lunsing RJ, Burger H, Sival DA. Reliability and discriminant validity of ataxia rating scales in early onset ataxia. Dev Med Child Neurol [Internet]. 2017;59:427–32.CrossRefGoogle Scholar
  34. 34.
    Noffs G, Perera T, Kolbe SC, Shanahan CJ, Boonstra FMC, Evans A, et al. What speech can tell us: a systematic review of dysarthria characteristics in multiple sclerosis. Autoimmun Rev. 2018;17:1202–9.CrossRefGoogle Scholar
  35. 35.
    Vogel AP, Rommel N, Oettinger A, Stoll LH, Kraus E-M, Gagnon C, et al. Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). J Neurol. 1234;265:2060–70.CrossRefGoogle Scholar
  36. 36.
    Schalling E, Hartelius L. Speech in spinocerebellar ataxia. Brain Lang. 2013;127:317–22.CrossRefGoogle Scholar
  37. 37.
    Vogel AP, Stoll LH, Oettinger A, Rommel N, Kraus E-M, Timmann D, et al. Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. J Neurol. 2019;266:1260–6.CrossRefGoogle Scholar
  38. 38.
    Murdoch BE, Barwood CHS. Non-invasive brain stimulation: a new frontier in the treatment of neurogenic speech-language disorders. Int J Speech Lang Pathol . 2013;15:234–244.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of NeurosciencesIRCCS Bambino Gesù Children’s HospitalRomeItaly
  2. 2.Department of Systems MedicineUniversity of Roma Tor VergataRomeItaly
  3. 3.Unit of NeurorehabilitationIRCCS Bambino Gesù Children’s HospitalRomeItaly

Personalised recommendations