Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-sectional study

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. Resultados: Alterações em pelo menos um item de cada estrutura do sistema estomatognático ou função estomatognática foram encontradas em todos os pacientes que permitiram a avaliação de ambos estes itens do exame físico (n = 76/78). As estruturas e funções mais frequentemente comprometidas foram, respectivamente, a arcada dentária e a língua e a deglutição e a mastigação. A única diferença estatisticamente significativa encontrada entre os tipos de mucopolissacaridose envolveu a posição habitual da língua entre os dentes (mais frequente na mucopolissacaridose VI). Entre os pacientes com mucopolissacaridose I, II ou VI submetidos ou não à terapia de reposição enzimática, foi encontrada diferença estatisticamente significativa no modo oral de respiração (mais frequente no grupo sem terapia de reposição enzimática). J Pediatr (Rio J) Conclusões:Alterações dos sistemas e funções estomatognáticas são prevalentes em indivíduos com mucopolissacaridose, mesmo na vigência de terapia de reposição enzimática. Tal achado sugere que o acompanhamento fonoterápico tenha papel importante no plano de tratamento desse grupo de doenças, hipótese que deve ser confirmada por estudos adicionais. Fonte financiadora: Rede MPS Brasil, CAPES. J Pediatr (Rio J)Não foram declarados conflitos de interesse associados ...

Oral manifestations in children with mucopolysaccharidosis

“…the most common are dwarfism, umbilical and inguinal hernias, macrocephaly, coarse facial changes, delayed motor skills, corneal clouding, glaucoma, dysostoses, bone dysplasias, heart disease, respiratory distress (obstructive/ restrictive disease), hepatosplenomegaly, progressive neurodegenerative disease, limited joint mobility as well as hearing loss. [1][2][3][4][6][7][8][9][13][14][15] The average life expectancy in the most severe forms is between ten to twenty years, though in attenuated forms survival may be normal. [1][2][3][4][6][7][8][9][13][14][15] Death is usually a result of either respiratory tract infection or cardiac disease, which are caused by the deposition of mucopolysaccharides.…”

“…[1][2][3][4][6][7][8][9][13][14][15] The average life expectancy in the most severe forms is between ten to twenty years, though in attenuated forms survival may be normal. [1][2][3][4][6][7][8][9][13][14][15] Death is usually a result of either respiratory tract infection or cardiac disease, which are caused by the deposition of mucopolysaccharides. [1][2][3][4]6,15,16 Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression.…”

“…The accumulation of mucopolysaccharides impacts the stomatognathic system, leading to changes in oral health and to the development of the dentition of patients with this disease. 3,[7][8][9][13][14][15][17][18][19][20][21][22][23][24][25][26][27] Craniofacial features consist of coarse facial features high prominent forehead, snub nose with a depressed nasal bridge, broad nasal tip, and anteverted nostrils. 3,7-9,13-15,17-27 Thick lips with an open mouth posture are also features associated with this syndrome.…”

“…Radiographic features that have been reported include short mandibular rami with abnormal condyles; reports also include delayed eruption teeth related to the presence of multiple unerupted teeth with large thickened dental follicles secondary to excessive dermatan sulfate and collagen deposition. 3,[7][8][9][13][14][15][17][18][19][20][21][22][23][24][25][26][27] Notwithstanding, to date there are no studies comparing oral features of patients with mucopolysaccharidosis with controls without the disease. The evaluation of dental conditions in patients with MPS is scarce considering that in literature only clinical cases are described.…”

“…Patients may appear normal at birth and manifest symptoms later. [1][2][3][4][6][7][8][9][13][14][15] Among the various features that characterize MPS patients, MedicalExpress (Sao Paulo, online) 2017 October;4(5):M170504…”