Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis / Test de medida de independencia funcional en la evaluación de pacientes con mucopolisacaridosis

Abstract Objective: To assess the functional independence of a group of patients with mucopolysaccharidosis using the Functional Independence Measure as a tool that accomplishes this purpose. Methods: This is a cross-sectional study of patients with mucopolysaccharidosis. Our data was collected between June 2015 and July 2016. In addition to history of present illness and physical examination each study participant was asked to answer a questionnaire to specifically evaluate their functional independence using the functional independence measure. the internal consistency of the functional independence measure was assessed using Cronbach's alpha coefficient. Results: We collected data on 20 patients with mucopolysaccharidosis. The average age was 10.8 (8.67-13.03) years, the average weight was 23.6 (19.91-27.37) kg and the average height was 1 (0.83-1.17) m. The most prevalent type of mucopolysaccharidosis in the study was type VI (n= 14). The average total functional independence measure score was 104.4 (97.61-111.19), the average for the mobility domain was 73.50 (68.22-78.78) and the average for the cognitive function domain was 30.90 (28.68-33.13). The internal consistency of the entire questionnaire was 0.859, with values of 0.966 for the mobility domain and 0.624 for the cognitive function domain. Conclusion: The lowest functional independence measure scores were obtained in the following sub-domains: self-care, locomotion and cognitive function. The functional independence measure questionnaire demonstrated internal consistency for the evaluation of functional independence in patients with mucopolysaccharidosis, being able to value all the affected sub-domains separately.

Resumen Objetivo: Evaluar la independencia funcional de un grupo de pacientes con mucopolisacaridosis utilizando la Medida de Independencia Funcional como herramienta para lograr este propósito. Métodos: Este es un estudio transversal de pacientes con mucopolisacaridosis. Nuestros datos se recopilaron entre junio de 2015 y julio de 2016. Además de la historia de la enfermedad actual y el examen físico, se pidió a cada participante del estudio que respondiera un cuestionario para evaluar específicamente su independencia funcional utilizando la Medida de Independencia Funcional. la consistencia interna de la Medida de Independencia Funcional se evaluó mediante el coeficiente alfa de Cronbach. Resultados: Recopilamos datos de 20 pacientes con mucopolisacaridosis. La edad promedio fue de 10.8 (8.67-13.03) años, el peso promedio fue de 23.6 (19.91-27.37) kg y la altura promedio fue de 1 m (0.83-1.17). El tipo de mucopolisacaridosis más prevalente en el estudio fue el tipo VI (n= 14). El puntaje promedio de la medida de independencia funcional total fue 104.4 (97.61-111.19), el promedio para el dominio de movilidad fue 73.50 (68.22-78.78) y el promedio para el dominio de función cognitiva fue 30.90 (28.68-33.13). La consistencia interna de todo el cuestionario fue de 0.859, con valores de 0.966 para el dominio de movilidad y 0.624 para el dominio de función cognitiva. Conclusión: Las puntuaciones más bajas de la medida de independencia funcional se obtuvieron en los siguientes subdominios: autocuidado, locomoción y función cognitiva. El cuestionario de medida de independencia funcional demostró consistencia interna para la evaluación de la independencia funcional en pacientes con mucopolisacaridosis, pudiendo valorar todos los subdominios afectados por separado.

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça / Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

OBJETIVO: Descrever o perfil de mobilidade articular e das forças de garra e de pinça de indivíduos com MPS VI, além de sua correlação com a excreção urinária de glicosaminoglicanos, atividade da ARSB e distância percorrida no teste de caminhada de 6 minutos. MÉTODOS: Estudo observacional de 28 pacientes com MPS VI, não submetidos a tratamento específico. Todos os pacientes foram avaliados em relação à amplitude da mobilidade articular, forças de garra e de pinça, excreção urinária de glicosaminoglicanos, atividade da ARSB e teste de caminhada de 6 minutos. RESULTADOS: Demonstrou-se maior comprometimento de flexão de ombro, sem correlação com a idade, e da extensão de joelho e flexão de cotovelo, estas últimas correlacionadas negativamente com a idade. A força de garra mostrou-se comprometida em todos os pacientes, e a força de pinça apresentou correlação positiva com idade. CONCLUSÕES: A restrição da flexão de ombro, sem correlação com a idade, sugere que este achado esteja presente precocemente na MPS VI e se constitua em sinal clínico importante para suspeita diagnóstica desta doença. A amplitude da extensão de joelho e da flexão de cotovelo, por sua vez, por apresentarem correlação negativa com a idade, são possíveis marcadores da evolução da doença. Estudos adicionais são necessários para confirmação dessas hipóteses.

OBJECTIVE: To describe the profile of joint mobility and grip and pinch strength of MPS VI patients and to correlate this with urinary excretion of glycosaminoglycans (GAGs), ARSB activity, and the distance covered in a 6-minute walking test (6MWT). METHODS: This was an observational study of 28 patients with MPS VI, who had not undergone specific treatment. All patients were assessed for amplitude of joint mobility (shoulder, elbow, and knee), grip and pinch strength and urinary GAG excretion and also performed the 6MWT. RESULTS: Shoulder flexion exhibited the greatest limitation, with no correlation with age, followed by knee extension and elbow flexion, both of which were correlated inversely with age. Hand grip strength was compromised in all patients, and pinch strength exhibited a positive correlation with age. CONCLUSIONS: The fact that restricted shoulder flexion was not correlated with age suggests that this finding is present early on in MPS VI and that it constitutes an important clinical sign that should arouse diagnostic suspicion of this disease. The amplitude of knee extension and elbow flexion, in turn, are possible markers of disease progression since they have a negative correlation with age. Further studies are needed to confirm these hypotheses.

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability