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Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study
Carneiro, Luciana; Souza, Carolina F.M.; Giugliani, Roberto; Fagondes, Simone C..
Affiliation
  • Carneiro, Luciana; Universidade Federal do Rio Grande do Sul. Programa de Pós-graduação em Ciências Pneumológicas. Porto Alegre. BR
  • Souza, Carolina F.M.; Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre. BR
  • Giugliani, Roberto; Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre. BR
  • Fagondes, Simone C.; Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Programa de Pós-graduação em Ciências Pneumológicas. Porto Alegre. BR
J. inborn errors metab. screen ; 10: e20220004, 2022. tab
Article in En | LILACS-Express | LILACS | ID: biblio-1421991
Responsible library: BR1.1
ABSTRACT
Abstract Mucopolysaccharidoses (MPS) are rare inborn errors of metabolism, leading to the accumulation of glycosaminoglycans (GAG) in distinct tissues. We investigated oropharyngeal dysphagia using the videofluoroscopic swallowing study (VFSS) in patients with different MPS types. Since there is a lack of studies systematically evaluating this disorder in this population, the use of a standard technique should contribute to better evaluate individuals with MPS. A cross-sectional and observational study enrolling patients followed by an outpatient service for lysosomal diseases at the Genetics Service of the Hospital de Clínicas de Porto Alegre (SGM/HCPA) was conducted. Patients underwent semi-structured interviews, clinical evaluation and VFSS. Nineteen patients were evaluated, including patients with MPS types I (16%), II (42%), IIIb (10%) and IVa (32%). Nearly all patients (95%) presented with oropharyngeal dysphagia in the VFSS. The most frequent findings were impaired chewing during oral phase (94%) and reduced laryngeal elevation in the pharyngeal phase (72%). Oropharyngeal dysphagia constituted a prevalent symptom in the studied cohort regardless of MPS type. Our data reinforces the notion that this disorder should be objectively assessed since it can significantly compromise the nutrition and the hydration of these patients as well as lead to tracheobronchial aspiration, thus resulting in aspiration pneumonia and even death eventually.
Key words

Full text: 1 Index: LILACS Type of study: Observational_studies / Qualitative_research Language: En Journal: J. inborn errors metab. screen Journal subject: Medicina Cl¡nica / Patologia Year: 2022 Type: Article

Full text: 1 Index: LILACS Type of study: Observational_studies / Qualitative_research Language: En Journal: J. inborn errors metab. screen Journal subject: Medicina Cl¡nica / Patologia Year: 2022 Type: Article