Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy.

Vanessa Brzoskowski Dos Santos,Jonas Alex Morales Saute,Annelise Ayres,Alcyr Alves De Oliveira,Rafaela Soares Rech,Laís Alves Jacinto-Scudeiro,Maira Rozenfeld Olchik

doi:10.1590/0004-282x-anp-2021-0034

Abstract

Although facial muscle weakness is common in patients with Facioscapulohumeral Muscular Dystrophy (FSHD), the literature is scarce on the speech and swallowing aspects. To investigate speech and swallowing patterns in FSHD and assess the correlation with clinical data. A cross-sectional study was conducted. Patients with clinical confirmation of FSHD and aged above 18 years were included and paired with healthy control individuals by age and gender. Individuals who had neurological conditions that could interfere with test results were excluded. The following assessments were applied: speech tests (acoustic and auditory-perceptual analysis); swallowing tests with the Northwestern Dysphagia Patient Check Sheet (NDPCS), the Eat Assessment Tool (EAT-10), the Speech Therapy Protocol for Dysphagia Risk (PARD), and the Functional Oral Intake Scale (FOIS); disease staging using the modified Gardner-Medwin-Walton scale (GMWS); and quality of life with the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). The correlation between test results and clinical data was verified by non-parametric statistics. Thirteen individuals with FSHD and 10 healthy controls were evaluated. The groups presented significant differences in the motor bases of phonation and breathing. Regarding swallowing, two (15%) individuals presented mild dysphagia and seven (53.8%) showed reduced facial muscles strength. These results were not correlated with duration of the disease, age at symptoms onset, and quality of life. Dysphagia was related to worsening disease severity. FSHD patients presented mild dysarthria and dysphagia. Frequent monitoring of these symptoms could be an important way to provide early rehabilitation and better quality of life.

Highlights

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic neuromuscular disease characterized by muscle weakness and progressive atrophy[1,2]
When the two patients who had a diagnosis of mild dysphagia were individually analyzed, we found that both scored the highest values in the Gardner-Medwin-Walton scale (GMWS)
We carried out a detailed characterization of speech and swallowing in FSHD patients undergoing treatment at a neuromuscular genetic disease care center in southern Brazil

Summary

Introduction

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic neuromuscular disease characterized by muscle weakness and progressive atrophy[1,2]. FSHD is one of the most frequent forms of muscular dystrophy in adults, with an estimated prevalence between four and ten per 100,000 population[3] This disease primarily affects the facial muscles, scapula muscles, and humerus muscles[4]. Facial muscle weakness is common in patients with Facioscapulohumeral Muscular Dystrophy (FSHD), the literature is scarce on the speech and swallowing aspects. Two (15%) individuals presented mild dysphagia and seven (53.8%) showed reduced facial muscles strength. These results were not correlated with duration of the disease, age at symptoms onset, and quality of life. Conclusions: FSHD patients presented mild dysarthria and dysphagia Frequent monitoring of these symptoms could be an important way to provide early rehabilitation and better quality of life

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Conclusion