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A multidisciplinary approach to the clinical management of Prader-Willi syndrome.

Jessica DuisPieter J van WattumAnn ScheimannParisa SalehiElly BrokampLaura FairbrotherAnna ChildersAlthea Robinson SheltonNathan C BinghamAshley H ShoemakerJennifer L Miller
Published in: Molecular genetics & genomic medicine (2019)
Establishment of clinics motivates collaboration to provide evidence-based new standards of care, increases the knowledge base including through randomized controlled trials, and offers an additional resource for the community. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. As a care team, we are currently charged with understanding the molecular basis of PWS beyond the known genetic cause; developing appropriate clinical outcome measures and biomarkers; bringing new therapies to change the natural history of disease; improving daily patient struggles, access to care, and caregiver burden; and decreasing healthcare load. Based on experience to date with a PWS multidisciplinary clinic, we propose a design for this approach and emphasize the development of "Centers of Excellence." We highlight the dearth of evidence for management approaches creating huge gaps in care practices as a means to illustrate the importance of the collaborative environment and translational approaches.
Keyphrases
  • healthcare
  • quality improvement
  • palliative care
  • primary care
  • randomized controlled trial
  • affordable care act
  • case report
  • physical activity
  • systematic review
  • genome wide
  • risk factors
  • meta analyses