Perfil de fala em pacientes com Doença de Huntington: correlações cognitivas, clínicas e sociodemográficas
Speech profile in patients with Huntington’s Disease: cognitive, clinical, and sociodemographic correlations
Nathália Vescia Bauer; Maria Eduarda Soares Machado; Maiara Laís Mallmann Kieling Peres; Raphael Machado de Castilhos; Maira Rozenfeld Olchik
Resumo
Objetivo: Descrever o perfil de fala na Doença de Huntington (DH), correlacionar com aspectos cognitivos e clínicos, e comparar com controles. Método: Foram incluídos indivíduos sintomáticos, com diagnóstico clínico e molecular de DH e controles. Foram obtidos dados clínicos e sociodemográficos. A gravidade foi coletada pela Unified Huntington’s Disease Rating Scale (UHDRS). A cognição foi avaliada pelos testes: fluência verbal, dígitos e stroop. A avaliação de fala foi feita por julgamento perceptivo auditivo e análise acústica. Resultados: Foram incluídos 7 indivíduos com DH, sendo 4 mulheres, com idade média de 48,86 (±16,03). Destes, 57,15% apresentaram disartria grave, 28,57% moderada e 14,28% leve. Sete controles saudáveis, pareados por sexo e idade, participaram do estudo. As alterações de fala dos indivíduos com DH estão relacionadas com a evolução dos sintomas motores, quanto piores os sintomas motores, pior o desempenho na fala. Com os demais dados clínicos, não houve correlação. Os indivíduos com DH foram significativamente piores comparados ao grupo controle nos subsistemas da fonação (frequência fundamental, tempo de fonação, jitter local, shimmer local), respiração (tempo máximo de fonação) e articulação (speech rate, tempo de fonação na fala espontânea, número de sílabas na fala espontânea, média de duração das sílabas e na duração da fala espontânea). Conclusão: Os subsistemas da fala mais afetados foram articulação, fonação e respiração. O perfil de fala está relacionado à progressão dos sintomas motores. A avaliação da fala tem a possibilidade de se configurar como um preditor da progressão da DH.
Palavras-chave
Abstract
Purpose: To describe speech profiles in individuals with Huntington’s Disease (HD), correlate them with cognitive and clinical aspects, and compare them with healthy controls. Methods: Symptomatic individuals with a clinical and molecular diagnosis of HD were included. Seven healthy controls, matched by age and sex, were also included. Clinical and sociodemographic data were obtained from medical records. The Unified Huntington’s Disease Rating Scale was used to measure severity. Cognitive data were collected using verbal fluency, symbol digit modalities, and Stroop tests. Auditory perceptual assessments were used to evaluate speech, and acoustic analysis extracted information about the following tasks: sustained vowel /a/, utterances with different intonations, oral diadochokinesis, spontaneous speech, and the repeated diphthong /ju:/. Results: Of the seven individuals with HD, four women with a mean age of 48.86 (±16.03), presented severe (57.15%), moderate (28.57%), and mild (14.28%) dysarthria. Speech impairment in HD case subjects was related to overall motor decline; the worse the motor symptoms, the worse the speech impairment. There was no correlation with the other clinical data or cognition. The case subjects were significantly worse than the control group, specifically regarding the subsystems of phonation (fundamental frequency, phonation time, local jitter, local shimmer), respiration (maximum phonation time) and articulation (speech rate, phonation time in spontaneous speech, number of syllables in spontaneous speech, average duration of syllables and duration of spontaneous speech). Conclusion: In HD subjects, the most affected speech subsystems were articulation, phonation, and respiration. Poor motor speech patterns were associated with overall motor decline. Speech assessments may provide biomarkers that predict HD progression.
Keywords
Referências
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Submetido em:
06/01/2024
Aceito em:
05/10/2024


