Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal

Abstract

Objective: To characterize the stomatognathic system and stomatognathic functions in patients with mucopolysaccharidosis. Methods:Cross-sectional and observational study of patients with mucopolysaccharidosis seen at the outpatient clinic at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre. The inclusion criteria were the existence of a biochemical or molecular diagnosis of any type of mucopolysaccharidosis and the agreement to participate in the study by signing an informed consent form. Seventy-eight patients were evaluated through phonoaudiological anamnesis and physical exam.Results: Alterations in at least one item of each structure of the stomatognathic system or stomatognathic function were found in all patients who allowed evaluation of both items on physical examination (n = 76/78). The most frequently compromised structures and functions were respectively the dental arch and the tongue, swallowing and mastication. The only statistically significant difference found between types of mucopolysaccharidosis involved the habitual position of the tongue between the teeth (most frequent in mucopolysaccharidosis VI). Among patients with mucopolysaccharidosis I, II or VI who underwent enzyme replacement therapy or not, there was statistically significant difference in oral breathing mode (more frequent in the group without enzyme replacement therapy). Conclusions:Alterations in stomatognathic systems and functions are prevalent among individuals with mucopolysaccharidosis, even if enzyme replacement therapy is administered. Such finding suggests that speech therapy follow-up plays a major role in the treatment plan of this group of diseases; this hypothesis should be confirmed by additional studies.

Interferência da disfagia orofaríngea no consumo alimentar de indivíduos com mucopolissacaridose II

“…Turra & Schwarts 32 , avaliando a motricidade oral em 78 pacientes com MPS atendidos no ambulatório de genética médica do hospital de clínicas de Porto Alegre, encontraram alterações em pelo menos um item de cada estrutura do sistema estomatognático ou função estomatogná-tica, como exemplo alterações na arcada dentária, na língua, na mastigação e na deglutição, sendo está última alteração presente em 98,5% dos portadores de MPS. Na avaliação funcional da deglutição no presente estudo houve presença de disfagia em mais de 70% dos portadores de MPS II avaliados.…”