Affiliation:
1. National Medical Research Center of Children’s Health
2. National Medical Research Center of Children’s Health; I.M. Sechenov First Moscow State Medical University
Abstract
Introduction. Mucopolysaccharidoses (MPS) are a group of rare lethal lysosomal storage disoders. The progress in pathogenetic and symptomatic treatment, achieved in the last two decades, has resulted in increased life expectancy of patients. Assessment of functional abilities of patients is necessary for optimization of medical, psychological, and pedagogical support.
The aim of the study. To study the adaptive skills, measured with Vineland Adaptive Behavior Scales, and the impact of enzyme-replacement therapy on adaptive skills in MPS children.
Materials and methods. A semi-structured interview for Vineland Adaptive Behavior Scales filling was carried out with one of the parents of 59 children with MPS. 41 patients had neuronopathic disease: 20 children received pathogenetic еnzyme replacement therapy (ERT), 21 patients didn’t receive ERT. 18 patients exhibited non-neuronopathic disease: 8 children received ERT, 10 — didn’t receive pathogenetic therapy. Dynamical changes in adaptive skills were investigated in 11 patients with neuronopathic MPS.
Results. Low level of adaptive motor, communication, daily living and socialization skills and their dynamical regress, stagnation or deceleration are characteristic for children with neuronopathic MPS. More than 75% of non-neuronopathic MPS patients have moderately low and low levels of adaptive behavior composite. ERT hasn’t demonstrated significant impact on adaptive skills in MPS patients. Non-significant tendency toward better level of communication skills has been noticed in children, receiving pathogenetic therapy. Necessity of weekly infusion may have a negative influence on patients’ socialization.
Conclusion. Elaboration of motor, pedagogical, and social rehabilitation programs is needed for correction of deficiency in adaptive skills and achieving adequate social adaptation in MPS children with preserved cognitive abilities.
Publisher
National Medical Research Center for Childrens Health
Reference29 articles.
1. Braunlin E.A. Cardiac Involvement in the Mucopolysaccharide Disoders. In: Moller J.H., Hoffman J.I.E., eds. Pediatric Cardiovascular Medicine. 2nd Edition. Wiley-Blackwell; 2012; 982–91.
2. Neufeld E., Muenzer J. The mucopolysaccharidosis. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill; 2001; 3421–52.
3. Lyon G., Kolodny E.H., Pastores G.M. Neurology of Hereditary Metabolic Disease of Children. 3rd edition. McGraw-Hill; 2006.
4. Saudubray J., van den Berghe J., Walter J.H., editors. Inborn Metabolic Diseases. 5th edition. Springer; 2012.
5. Wilkinson F.L., Holley R.J., Langford-Smith K.J., Badrinath S., Liao A., Langford-Smith A., et al. Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS One. 2012; 7(4): e35787. https://doi.org/10.1371/journal.pone.0035787