A group of clinicians has established a series of guidelines for the treatment of people with Prader-Willi syndrome (PWS). The guidelines are already being implemented at Tennessee’s Prader-Willi Clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt.
The new guidelines were described in the study, “A multidisciplinary approach to the clinical management of Prader-Willi syndrome,” published in the journal Molecular Genetics & Genomic Medicine.
PWS is a rare, complex, neurogenetic disorder caused by the loss of function of paternal genes in a region of chromosome 15 that affects metabolism, appetite, growth, intellectual function, and social behavior.
For this reason, patients with PWS have a wide range of unmet clinical needs that require a multidisciplinary approach, combining the expertise of different specialists and medical facilities to help manage symptoms and improve quality of life.
In 2011, the American Academy of Pediatrics (AAP) released a series of guidelines to help pediatricians caring for children with PWS, providing general recommendations regarding diagnosis, nutrition management, overall health supervision, and transition to adult healthcare. However, these guidelines lacked specific recommendations for disease management and treatment from a medical specialist standpoint.
The new guidelines take a step further and offer specific recommendations from specialists in different clinical areas to physicians and parents of children with PWS.
The new guidelines were crafted based on consensus feedback from medical professionals, scientists, care experts, parents, and patients with PWS, who were interviewed between July and December 2016. To complement the findings, the team also performed a systematic literature review.
In the study, the team argued that patients with PWS require continuous support from experts in genetics, endocrinology, nutrition and/or gastroenterology, pulmonology, sleep, neurological development, and social behavior. In addition, patients should have access to interventional services, including physical, occupational, and speech therapy.
Researchers also emphasized the usefulness and importance of care coordination, telemedicine, and home-based health services in facilitating and promoting patients’ access to proper healthcare.
“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,” Jessica Duis, MD, assistant professor of pediatrics, clinic director, and lead author of the study, said in a Vanderbilt University news release written by Jessica Pasley.
“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,” Duis said.
The team stated that specialized clinical centers should be created to implement these strategies and bridge the gap between basic and applied research, supporting patients, families, caregivers, and physicians.
“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,” the researchers said. “We propose bringing together medical providers, researchers, pharma, and families to help the field progress through a network of centers of excellence across the globe.”