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[Global functional management of mucopolysaccharidoses].

作者信息

Boulay C, Lemoine M, Chabrol B

机构信息

Service de neurologie pédiatrique, centre de référence des maladies héréditaires du métabolisme, hôpital d'enfants, CHU Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.

Unité de rééducation polyvalente, hôpital Necker-Enfants malades (AP-HP), 149, rue de Sèvres 75015 Paris, France.

出版信息

Arch Pediatr. 2014 Jun;21 Suppl 1:S46-9. doi: 10.1016/S0929-693X(14)72259-6.

Abstract

The management of mucopolysaccharidoses (MPS) requires a multidisciplinary approach and all medical and paramedical specialties may be involved because of the multiorgan nature of the disease. For this reason, patients should ideally be managed in a reference center and their management should be coordinated by an experienced physician who has access to the various specialists through a multi-disciplinary approach. The management is focused on assessments of the numerous features of the disease, study their progression and the effectiveness and pitfalls of specific and non-specific treatments. The main concerns of reeducation and rehabilitation should be to preserve global function through specific goals to be set along with the child and its family. This is a very demanding approach for the patient and family in which education plays a fundamental role in order to ensure optimal management.

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