Transition from paediatric care to adult care for patients with mucopolysaccharidosis

Abstract

Mucopolysaccharidosis are multisystem diseases that require large multidisciplinary teams for their care. Specific recommendations are therefore needed for the transition from childhood to adulthood in this patient group. To overcome the barriers that might arise during the transition, the authors consider it essential to implement a flexible plan with a coordinator for the entire process, systematising the information through a standardised paediatric discharge report and educating the patient and their family about the disease, showing the characteristics of the healthcare system in this new stage. The final objective is that, once the transition to adulthood has been completed, the patient's autonomy and potential development are maximised and that the patient receives appropriate healthcare during this transition.

Keywords: Children with special needs; Enfermedades genéticas; Enfermedades metabólicas hereditarias; Enfermedades raras; Genetic diseases; Hereditary metabolic diseases; Mucopolisacaridosis; Mucopolysaccharidosis; Niños con necesidades especiales; Rare diseases; Transición; Transition.