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