Motor development evaluation in children with mucopolysacharidosis II

Mucopolysaccharidosis (MPS) is a multisystem disease caused by the body’s inability to perform ametabolic process specific to lysosomal degradation of glycosaminoglycans (GAGs). The progressive accumulationof GAG in various organs and tissues results in functional and structural disorders in individuals affected byMPS. MPS type II is an inherited metabolic disease, linked to the X chromosome, whose main impairment isthe delay in neuropsychomotor development. The purpose of this study was to evaluate the motor developmentof children affected by MPS II. A case study was carried out with two children, attending the “APAE Maceio” institution. The Scale of Motor Development was used for data collection and data analysis was performed bycomparing the chronological age of each child. Results showed that the children present motor profile classifiedas “Very Low”, confirming the findings in the literature, highlighting the need for early intervention through harmreduction and maintenance of the remaining skills. This study also observed that the progressive characteristicof this genetic disease is still poorly studied. Therefore, the importance of studies on motor performance shouldbe highlighted in order to determine the development of children affected by MPS II at different evolutionarystages to support the clinical practice in helping to reduce functional deficits, thus contributing to the cognitive,affective and social developments.