title: Voice in Friedreich Ataxia.
abstract: BACKGROUND
  Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.
  
  
  OBJECTIVE
  To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.
  
  
  METHODS
  Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech and voice samples were analyzed acoustically using the Analysis of Dysphonia in Speech and Voice program and perceptually using the Consensus Auditory-Perceptual Evaluation of Voice form. Correlations between dysphonia and overall dysarthria severity, demographic, clinical, and genetic information were explored.
  
  
  RESULTS
  Individuals with FRDA presented with mild dysphonia characterized by hoarseness (combined roughness and breathiness), increased strain, and altered pitch variability (increased in vowel productions; slightly decreased on reading samples). Acoustically, individuals with FRDA had significantly higher scores on the Cepstral Spectral Index of Dysphonia during vowel production. A combination of perceptual and acoustic measures of dysphonia used in this study was quite effective in categorizing the FRDA versus control participants, with >80% overall accuracy.
  
  
  CONCLUSIONS
  Although dysphonia severity in FRDA did not correlate significantly with overall disease severity, speaking rate and syllabic duration significantly correlated with age at disease onset and disease duration, and also have an effect on listener perception of dysphonia. The relationship between dysphonia and dysarthria in FRDA suggests that reducing overall dysphonia severity via therapeutic techniques that improve phonatory stability and increase speaking rate is a viable target for speech therapy.
authors: Centre for Neuroscience of Speech, The University of Melbourne, Melbourne, Australia; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany. Electronic address: vogela@unimelb.edu.au.
authors: Adam P
authors: AP
authors: Vogel
authors: Centre for Neuroscience of Speech, The University of Melbourne, Melbourne, Australia.
authors: Mayumi I
authors: MI
authors: Wardrop
authors: School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, Australia.
authors: Joanne E
authors: JE
authors: Folker
authors: Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany.
authors: Matthis
authors: M
authors: Synofzik
authors: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia; School of Psychological Sciences, Monash University, Melbourne, Australia; Monash Health, Melbourne, Australia.
authors: Louise A
authors: LA
authors: Corben
authors: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia; Clinical Genetics, Austin Health, Melbourne, Australia.
authors: Martin B
authors: MB
authors: Delatycki
authors: Department of Audiology & Speech Pathology, Bloomsburg University of Pennsylvania, Bloomsburg, Pennsylvania.
authors: Shaheen N
authors: SN
authors: Awan
mesh_terms: D000162:Acoustics; D000328:Adult; D016022:Case-Control Studies; D055154:Dysphonia / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007600:Judgment; D008297:Male; D008875:Middle Aged; D015588:Observer Variation; D010641:Phenotype; D010699:Phonation; D011237:Predictive Value of Tests; D020127:Recovery of Function; D015203:Reproducibility of Results; D012720:Severity of Illness Index; D012815:Signal Processing, Computer-Assisted; D013018:Sound Spectrography; D013061:Speech Acoustics; D013065:Speech Intelligibility; D013067:Speech Perception; D013068:Speech Production Measurement; D013070:Speech Therapy / Q000379:methods*; D013997:Time Factors; D016896:Treatment Outcome; D014833:Voice Quality; D014834:Voice Training; D055815:Young Adult
keywords: acoustics; clinical markers; dysarthria; dysphonia; hereditary ataxia