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DOI: 10.1590/0004-282X-ANP-2021-0034
Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy
Caracterização da fala e da deglutição em pacientes com distrofia muscular facioescapuloumeral
ABSTRACT
Background: Although facial muscle weakness is common in patients with Facioscapulohumeral Muscular Dystrophy (FSHD), the literature is scarce on the speech and swallowing aspects. Objective: To investigate speech and swallowing patterns in FSHD and assess the correlation with clinical data. Methods: 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. Results: 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. 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.
RESUMO
Antecedentes: Embora haja predomínio de fraqueza muscular facial na distrofia facioescapuloumeral (FSHD), é escassa a literatura sobre aspectos de fala e deglutição. Objetivo: Investigar os padrões de fala e deglutição na FSHD e correlacioná-los com dados clínicos da doença. Métodos: Estudo transversal. Pacientes com confirmação clínica de FSHD e idade acima de 18 anos foram incluídos e pareados por idade e sexo com controles saudáveis. Foram excluídos indivíduos que apresentassem condições neurológicas que pudessem interferir nos resultados dos testes. Aplicaram-se as seguintes avaliações: fala (análise acústica e perceptivo-auditiva); deglutição, por meio do Northwestern Dysphagia Patient Check Sheet (NDPCS), Eat Assessment Tool (EAT-10), Protocolo de Avaliação para Risco de Disfagia (PARD) e Functional Oral Intake Scale (FOIS); estadiamento da doença, por meio da Gardner-Medwin-Walton scale (GMWS); e qualidade de vida, com o Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). Resultados de fala e deglutição foram correlacionados com dados clínicos da doença por teste não paramétrico. Resultados: Foram avaliados 13 indivíduos com FSHD e dez controles saudáveis. Houve diferença significativa entre os grupos nas bases motoras fonação e respiração. Na deglutição, dois (15%) indivíduos apresentaram disfagia leve e sete (53,8%), força reduzida da musculatura da face. Esses resultados não foram correlacionados com tempo de doença, idade de início dos sintomas e qualidade de vida. A disfagia esteve relacionada com a gravidade da doença. Conclusões: Pacientes com FSHD apresentaram disartria e disfagia leves. O monitoramento frequente desses sintomas pode ser uma forma importante de proporcionar reabilitação precoce e melhor qualidade de vida.
Keywords:
Muscular Dystrophy, Facioscapulohumeral - Dysarthria - Speech - Deglutition Disorders - Neuromuscular DiseasesPalavras-chave:
Distrofia Muscular Facioescapuloumeral - Disartria - Fala - Transtornos de Deglutição - Doenças NeuromuscularesAuthors’ contributions:
VBS: study conduction, data collection, manuscript writing and final review; RSR: data analysis and manuscript writing; LAJS, AA: manuscript writing and review; MRO, JMS: study conception and design and final review of the manuscript; AAO: writing and revision of the final manuscript.
Support
This study received funding from the Brazilian government through the master scholarship kindly awarded to Vanessa Brzoskowski dos Santos by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
Publication History
Received: 18 February 2021
Accepted: 31 July 2021
Article published online:
31 January 2023
© 2022. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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References
- 1 Wagner KR. Facioscapulohumeral muscular dystrophies. Continuum (Minneap Minn) 2019; Dec; 25 (06) 1662-1681 https://doi.org/10.1212/CON.20210034202100340801
- 2 Statland J, Tawil R. Facioscapulohumeral muscular dystrophy. Neurol Clin. 2014 Aug;32(3):721-8, ix https://doi.org/10.1016/j.ncl.2014.04.003
- 3 Preston MK, Tawil R, Wang LH, Facioscapulohumeral Muscular Dystrophy. 1999 Mar 8 [updated 2020 Feb 6]. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G. et al. GeneReviews® . Seattle (WA): University of Washington; 199- 2021.
- 4 Greco A, Goossens R, van Engelen B, van der Maarel SM. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy. Clin Genet 2020; Jun; 97 (06) 799-814 https://doi.org/10.1111/cge.13726
- 5 Mul K, Lassche S, Voermans NC, Padberg GW, Horlings CGC, van Engelen BGM. What’s in a name? The clinical features of facioscapulohumeral muscular dystrophy. Pract Neurol 2016; Jun; 16 (03) 201-207 https://doi.org/10.1136/practneurol-2015-001353
- 6 Mul K, van den Boogaard ML, van der Maarel SM, van Engelen BGM. Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy. Curr Opin Neurol 2016; Oct; 29 (05) 606-613 https://doi.org/10.1097/WCO.20210034202100340360
- 7 Ortiz KZ, Carrillo L. Comparação entre as análises auditiva e acústica nas disartrias. Rev Soc Bras Fonoaudiol 2008; 13 (04) 325-331 https://doi.org/10.1590/S1516-80342008000400005
- 8 Mul K, Berggren KN, Sills MY, McCalley A, Van Engelen BGM, Johnson NE. et al. Effects of weakness of orofacial muscles on swallowing and communication in FSHD. Neurology 2019; Feb; 92 (09) e957-e963 https://doi.org/10.1212/WNL.20210034202100347013
- 9 Baijens LWJ, Clavé P, Cras P, Ekberg O, Forster A, Kolb GF. et al. European society for swallowing disorders - European union geriatric medicine society white paper: Oropharyngeal dysphagia as a geriatric syndrome. Clin Interv Aging 2016; Oct; 11: 1403-1428 https://doi.org/10.2147/CIA.S107750
- 10 Stübgen JP. Facioscapulohumeral muscular dystrophy: A radiologic and manometric study of the pharynx and esophagus. Dysphagia 2008; Dec; 23 (04) 341-347 https://doi.org/10.1007/s00455-007-9141-0
- 11 Wohlgemuth M, de Swart BJM, Kalf JG, Joosten FBM, van der Vliet AM, Padberg GW. Dysphagia in facioscapulohumeral muscular dystrophy. Neurology 2006; Jun; 66 (12) 1926-1928 https://doi.org/10.1212/01.wnl.0000219760.76441.f8
- 12 Yamanaka G, Goto K, Matsumura T, Funakoshi M, Komori T, Hayashi YK. et al. Tongue atrophy in facioscapulohumeral muscular dystrophy. Neurology 2001; Aug; 57 (04) 733-735 https://doi.org/10.1212/wnl.57.4.733
- 13 Statland JM, Tawil R. Risk of functional impairment in facioscapulohumeral muscular dystrophy. Muscle Nerve 2014; Apr; 49 (04) 520-527 https://doi.org/10.1002/mus.23949
- 14 Fanin M, Angelini C. Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol 2002; Dec; 28 (06) 461-470 https://doi.org/10.1046/j.1365-2990.2002.00417.x
- 15 Ciconelli RM, Ferraz MB, Santos W, Meinao I, Quaresma MR. Brazilian-Portuguese version of the SF-36. A reliable and valid quality of life outcome measure. Rev Bras Reumatol May-Jun 1999; 39 (03) 143-150
- 16 Memória CM, Yassuda MS, Nakano EY, Forlenza OV. Brief screening for mild cognitive impairment: Validation of the Brazilian version of the Montreal cognitive assessment. Int J Geriatr Psychiatry 2013; Jan; 28 (01) 34-40 https://doi.org/10.1002/gps.3787
- 17 Boersma P, Weenink D. Praat, a system for doing phonetics by computer. Glot Int Nov-Dec 2001; 5: 341-345
- 18 Behlau M, Azevedo R, Pontes P, Conceito de voz normal e classificação das disfonias. Behlau M. Voz: o livro do especialista. Rio Janeiro: Revinter; 2001: 53-79
- 19 Padovani M, Gielow I, Behlau M. Phonarticulatory diadochokinesis in young and elderly individuals. Arq Neuro-Psiquiatr 2009; Mar; 67 (01) 58-61 https://doi.org/10.1590/s0004-282x2009000100015
- 20 Magalhães Junior HV, Pernambuco LA, Souza LBR, Ferreira MAF, Lima KC. Tradução e adaptação transcultural do Northwestern Dysphagia Patient Check Sheet para o português brasileiro. CoDAS 2013; 25 (04) 369-374
- 21 Gonçalves MIR, Remaili CB, Behlau M. Cross-cultural adaptation of the Brazilian version of the Eating Assessment Tool - EAT-10. CoDAS 2013; Dec; 25 (06) 601-604 https://doi.org/10.1590/S2317-17822013.05000012
- 22 Padovani A, Moraes D, Mangili L, Andrade C. Protocolo Fonoaudiológico de Avaliação do Risco para Disfagia (PARD). Rev Soc Bras Fonoaudiol 2007; Sep; 12 (03) 199-205 https://doi.org/10.1590/S1516-80342007000300007
- 23 Crary MA, Carnaby Mann GD, Groher ME. Initial psychometric assessment of a functional oral intake scale for dysphagia in stroke patients. Arch Phys Med Rehabil 2005; Aug; 86 (08) 1516-1520 https://doi.org/10.1016/j.apmr.2004.11.049
- 24 Oates J. Auditory-perceptual evaluation of disordered voice quality: pros, cons and future directions. Folia Phoniatr Logop 2009; 61 (01) 49-56 https://doi.org/10.1159/000200768
- 25 Schipper K, Bakker M, Abma T. Fatigue in facioscapulohumeral muscular dystrophy: a qualitative study of people’s experiences. Disabil Rehabil 2017; Sep; 39 (18) 1840-1846 https://doi.org/10.1080/09638288.2016.1212109
- 26 Voet NBM, Bleijenberg G, Padberg GW, van Engelen BGM, Geurts ACH. Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: Protocol of the FACTS-2-FSHD trial. BMC Neurol 2010; Jun; 10: 56-56 https://doi.org/10.1186/1471-2377-10-56
- 27 Henke C, Spiesshoefer J, Kabitz HJ, Herkenrath S, Randerath W, Brix T. et al. Respiratory muscle weakness in facioscapulohumeral muscular dystrophy. Muscle Nerve 2019; Dec; 60 (06) 679-686 https://doi.org/10.1002/mus.26717
- 28 Lundy DS, Roy S, Xue JW, Casiano RR, Jassir D. Spastic/spasmodic vs. tremulous vocal quality: Motor speech profile analysis. J Voice 2004; Mar; 18 (01) 146-152 https://doi.org/10.1016/j.jvoice.2003.12.001
- 29 Hustad KC. Comprehension and intelligibility scores for speakers with dysarthria. J Speech Lang Hear Res 2008; Jun; 51 (03) 562-573 https://doi.org/10.1044/1092-4388(2008/040)
- 30 Kumar S, Kar P, Singh D, Sharma M. Analysis of diadochokinesis in persons with Parkinson’s disease. J Datta Meghe Inst Med Sci Univ 2018; Jul; 13 (03) 140-142 https://doi.org/10.4103/jdmimsu.jdmimsu_66_18