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Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1

Hagit Toledano-Alhadef1,2,3, Victor-Felix Mautner4, Isabel Gugel5,6

  • 1Gilbert Israeli and International Neurofibromatosis Centre, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|June 10, 2020
PubMed

Insights

Neurofibromatosis type 1 (NF1) is a rare pediatric disease requiring lifelong multidisciplinary care. This study highlights the importance of integrated NF1 centers for improving patient and caregiver quality of life.

Area of Science:

  • Pediatric rare diseases
  • Genetics and rare disorders
  • Multidisciplinary healthcare

Background:

  • Neurofibromatosis type 1 (NF1) is a common rare/orphan disease with early pediatric onset.
  • NF1 significantly burdens patients and caregivers, necessitating coordinated medical management.
  • Optimal care decisions for NF1 often involve collaboration among multiple medical specialists.

Purpose of the Study:

  • To enhance awareness of multidisciplinary care delivery for NF1 patients.
  • To explore effective models for managing health and health-related aspects of NF1 care.
  • To summarize experiences from established NF1 centers.

Main Methods:

  • Literature review on NF1 care models.
  • Description of clinical work from three NF1 centers.
  • Analysis of experiences from population-focused and family-focused centers.

Main Results:

  • Summarized experiences from three multidisciplinary NF1 centers.
  • Highlighted the benefits of integrated care approaches for NF1.
  • Demonstrated the value of teamwork in managing NF1.

Conclusions:

  • Chronic pediatric-onset rare diseases like NF1 require long-term, multidisciplinary follow-up.
  • Establishing multidisciplinary NF1 centers is crucial for enhancing the quality of care.
  • Integrated care models improve outcomes for patients with NF1 syndrome.
Abstract

Keywords:
Multidisciplinary TeamNeurofibromatosis type 1Orphan disease

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