Aspectos clinicos da deglutição, da fonoarticulação e suas correlações geneticas na Doença de Machado Joseph / Clinical aspects of swallowing, voice/speech and genetic correlation in Machado Joseph disease

AUTOR(ES)
DATA DE PUBLICAÇÃO

2008

RESUMO

Introduction: Machado-Joseph (MJO) is a degenerative, autosomal dominant inherited disease, common to populations of Portuguese descent. It is a form of triplet repeat genetic disorder. The original mutation is caused by an abnormal repetition of the CAG code on chromosome 14q. The estimated prevalence in Brazil is 1: 1 00,000. The polymorphic symptoms appear between ages 30 and 50. The disease begins with various muscle alterations, difficulty in walking and balance, ataxia, involuntary eye movement, and double vision. The degenerative progression damages different areas and/or functions of the central and/or peripheral nervous system(s), among these, the areas and channels responsible for the motor control of speech and deglutition. As the disease advances, the ability to communicate and deglutition become hindered, and the use of alternative methods becomes an important resource. Speech therapy interventions aimed at the alterations in deglutition are important, as most cases of difficulty in swallowing can cause aspiration pneumonia. The Objective of this study is to characterize phono-articulation in MJO and correlate it to the size of the CAG triplet, the time the disease takes to evolve, the age at which the first symptoms were detected, and clinical type, and characterize the deglutition in this group. Method: Thirty-three MJO patients participated by recording samples of their spontaneous speech and motor gesture of alternate speech (GMFA - Ipal Ital Ikal Ipatakal la/), and 12 patients underwent videoendoscopies of their deglutition. The analysis of the recorded material was carried out in three distinct forms. The first, tested on ali patients, was the analysis of the intelligibility of a five-second passage of spontaneous speech, in a single listening through an earphone, by three experienced speech therapists who registered a phonetic transcription. The second form, hearing perception, now with a free number of listening trials, was performed by the same evaluators by following the protocol adapted by the Mayo Clinic for dysarthria. The third form, employing GMFA, 28 patients had their GMFA samples evaluated by the Motor Speech Profile program by Kay Pentax, which obtained the average duration of the vowel consonant pedod (Ex. Ipa/) in ms, the number of syllables per second, the deflection standard of the period (ms), the variable coefficient of the period (%) and the perturbation of the period (%). These analyses were compared to normative voice banks, one by one, according to category. For the deglutition analysis, the protocol of Unicamp s dysphagia medical clinic was adopted. Results and Conclusions: The phono-articulation is characterized by alterations in pitch, vocal quality, resonance and intra-oral pressure, intelligibility, pronunciation and articulation. These data presented a high to moderate degree of correlation with age at which the disease manifested and the size of the CAG expansion. As to the GMFA trials, the MJO group was significantly different from the control group, and the time span of the disease correlates to the worst capacity to perform the GMFA. In relation to deglutition, we can conclude that alterations do exist in the pharyngeal phase of swallowing in patients suffering from MJO due to alterations in the control of the oral motor, which hampers the manipulation of larger viscosities and volume in the oral cavity, increasing the occurrences of stasis and penetrations

ASSUNTO(S)

voz speech swallowing deglutição machado-joseph disease doença de machado-joseph fala voice

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