by Jessica Pasley
The comprehensive, multidisciplinary Prader-Willi Clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt is setting standards for the care of patients with the complex genetic disorder.
The first of its kind in the region, the clinic’s standards were published in Molecular Genetics and Genomic Medicine in a paper titled “A multidisciplinary approach to the clinical management of Prader–Willi syndrome.”
For clinic director Jessica Duis, MD, MS, assistant professor of Pediatrics, leveraging the expertise of her team to establish guidelines for treatments for individuals with Prader-Willi syndrome (PWS) is a powerful resource for patients and other clinicians.
Opened in 2017, the clinic aims to provide up-to-date clinical care and bring new therapies to individuals with PWS, which affects one in 10,000-15,000 people nationwide. It serves patients with the complex genetic disorder that affects appetite, growth, metabolism, cognitive function and behavior.
PWS is characterized by developmental delays and intellectual disability, short stature, behavioral concerns, sleep abnormalities, underdeveloped sex organs and the inability to achieve satiety.
“As we enter a new era for genetic disorders, in which we do more than make a diagnosis but consider standards of care and life-altering therapies, it is exciting for our clinic to be at the forefront of this work,” said Duis. “This is the first step for our clinic in putting out evidence-based medicine to set the standard for how PWS is managed all over the world.
“The American Academy of Pediatrics offers guidelines but does not outline the specifics of specialty management and therapeutic strategy. We are going a step further and providing parents and other care providers information to feel empowered to care for patients with this rare disorder.”
Duis said the standards call for a multidisciplinary model, with expertise in genetics, endocrinology, nutrition, pulmonology. Sleep, behavior, and interventional services with care coordination is helpful to ensure an integrated and evidence‐based approach to care.
The team proposes that centers of excellence be created to serve as a resource to patients, families, and the medical community.
“This is a critical time, as these centers would serve to bring clinical trials that will likely impact the natural history of PWS as we know it.
“We propose a multidisciplinary approach to deliver comprehensive care in a setting where specialists are collaborative, communicate closely and deliver patient‐ and family‐centered care,” she said in the report.
“Our next step is to bring together basic scientists and clinicians to have a bench-to-bedside approach to PWS,” said Duis. “This close collaboration will hopefully directly impact our patients’ lives and provide new insights into aspects of PWS.”
