ArticlePloS one2014
Phonatory dysfunction as a preclinical symptom of Huntington disease.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- A machine learning-derived speech index as a biomarker for Huntington's disease severity.Journal of neurology · 2026Article
- Challenging or less challenging oral diadochokinetic tasks-what works best in Huntington disease? A cross-sectional study.Journal of neurology · 2025Article
- Digital assessment of speech in Huntington disease.Frontiers in neurology · 2024Article
- Dysarthria in hereditary spastic paraplegia type 4.Clinics (Sao Paulo, Brazil) · 2023Article
- Voice biomarkers as indicators of cognitive changes in middle and later adulthood.Neurobiology of aging · 2022Article
- Predicting clinical scores in Huntington's disease: a lightweight speech test.Journal of neurology · 2022Article
- No optical coherence tomography changes in premanifest Huntington's disease mutation carriers far from disease onset.Brain and behavior · 2022Article
- The diagnostic utility of patient-report and speech-language pathologists' ratings for detecting the early onset of bulbar symptoms due to ALS.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2017Article
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Authors and funding
5 authors.
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Abstract
purposeAlthough dysphonia has been shown to be a common sign of Huntington disease (HD), the extent of phonatory dysfunction in gene positive premanifest HD individuals remains unknown. The aim of the current study was to explore the possible occurrence of phonatory abnormalities in prodromal HD.
methodSustained vowel phonations were acquired from 28 premanifest HD individuals and 28 healthy controls of comparable age. Data were analysed acoustically for measures of several phonatory dimensions including airflow insufficiency, aperiodicity, irregular vibration of vocal folds, signal perturbations, increased noise, vocal tremor and articulation deficiency. A predictive model was built to find the best combination of acoustic features and estimate sensitivity/specificity for differentiation between premanifest HD subjects and controls. The extent of voice deficits according to a specific phonatory dimension was determined using statistical decision making theory. The results were correlated to global motor function, cognitive score, disease burden score and estimated years to disease onset.
resultsMeasures of aperiodicity and increased noise were able to significantly differentiate between premanifest HD individuals and controls (p<0.01). The combination of these aspects of dysphonia led to a sensitivity of 91.5% and specificity of 79.2% to correctly distinguish speakers with premanifest HD from healthy individuals. Some form of disrupted phonatory function was revealed in 68% of our premanifest HD subjects, where 18% had one affected phonatory dimension and 50% showed impairment of two or more dimensions. A relationship between pitch control and cognitive score was also observed (r = -0.50, p = 0.007).
conclusionsPhonatory abnormalities are detectable even the in premotor stages of HD. Speech investigation may have the potential to provide functional biomarkers of HD and could be included in future clinical trials and therapeutic interventions.
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