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Transition from paediatric care to adult care for patients with mucopolysaccharidosis

M L Couce1, M Del Toro2, M C García-Jiménez3

  • 1Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Servicio de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBERER, Universidad de Santiago, Santiago de Compostela, A Coruña, España.

Revista Clinica Espanola
|July 23, 2017
PubMed

Insights

Transitioning patients with mucopolysaccharidoses (MPS) to adult care requires a coordinated, flexible plan. This approach ensures maximized patient autonomy and appropriate healthcare throughout the transition process.

Area of Science:

  • Biomedical Sciences
  • Genetics and Rare Diseases
  • Pediatric Healthcare

Background:

  • Mucopolysaccharidoses (MPS) are complex multisystem inherited metabolic disorders.
  • Effective care for MPS patients necessitates extensive multidisciplinary team involvement.
  • A structured transition from pediatric to adult healthcare is crucial for this patient population.

Purpose of the Study:

  • To establish recommendations for a seamless transition of care for patients with mucopolysaccharidoses from pediatric to adult healthcare settings.
  • To address and overcome potential barriers encountered during this critical transition phase.
  • To optimize long-term health outcomes and patient autonomy.

Main Methods:

  • Development of a flexible, coordinated transition plan.
  • Systematization of patient information via standardized pediatric discharge reports.
  • Education of patients and families regarding the disease and adult healthcare system navigation.

Main Results:

  • Implementation of a coordinator role to oversee the entire transition process.
  • Standardized documentation to ensure continuity of care.
  • Enhanced patient and family understanding of the healthcare system and disease management.

Conclusions:

  • A structured, flexible, and coordinated transition plan is essential for patients with mucopolysaccharidoses.
  • Systematic information transfer and patient/family education are key components for successful transition.
  • The ultimate goal is to maximize patient autonomy and ensure appropriate lifelong healthcare for individuals with MPS.

Keywords:
Children with special needsEnfermedades genéticasEnfermedades metabólicas hereditariasEnfermedades rarasGenetic diseasesHereditary metabolic diseasesMucopolisacaridosisMucopolysaccharidosisNiños con necesidades especialesRare diseasesTransiciónTransition

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