Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation

Neurol Sci. 2018 Sep;39(9):1547-1550. doi: 10.1007/s10072-018-3453-8. Epub 2018 May 26.

Abstract

Background: Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated.

Objective: The goal of this study was to investigate dysarthrophonia in SPG11 patients using quantitative measures. The voice/speech of two patients and a non-affected mutation carrier was recorded and analyzed using electroglottography (EGG) and speech acoustics.

Results: Dysarthrophonia showed a higher standard deviation of the average fundamental frequency, a three to eight times higher jitter, a 80-110 Hz higher mean fundamental frequency, and a two times higher fundamental frequency range. Diadochokinesis showed a pattern of a two to three times increase in the mean duration of the release burst of the phonemes /p/, /t/, /k/ as well as a 1.5 time increase in the mean vowel duration of the syllables /pa/, /ta/, /ka/.

Conclusion: Non-invasive physiological methods (EGG and speech acoustics) offer essential tools for the assessment of dysarthrophonia in SPG11 patients.

Keywords: Acoustics; Dysarthrophonia; Electroglottography; Hereditary spastic paraplegia.

Publication types

  • Case Reports

MeSH terms

  • Family
  • Female
  • Glottis / physiopathology
  • Heterozygote
  • Homozygote
  • Humans
  • Middle Aged
  • Mutation*
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology*
  • Speech Acoustics
  • Speech Disorders / genetics*
  • Speech Disorders / physiopathology*

Substances

  • Proteins
  • SPG11 protein, human