A multidisciplinary approach to the clinical management of Prader–Willi syndrome

Abstract

Background Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Multidisciplinary clinics support comprehensive, patient‐centered care for individuals with complex genetic disorders and their families. Value comes from improved communication and focuses on quality family‐centered care. Methods Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Review of the literature was used to provide support. Results Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. We have also defined the Center of Excellence beyond the multidisciplinary clinic. Conclusion 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.

Premature Adrenarche in Children with Prader-Willi Syndrome Treated with Recombinant Human Growth Hormone Seems to Not Influence the Course of Central Puberty and the Efficacy and Safety of the Therapy

“…Prader-Willi syndrome (PWS) is a first recognized human genetic imprinting disorder with the prevalence of 1 in 15,000 to 1 in 30,000. The genetic mechanism is lack of paternally-inherited genes on chromosome 15q11-q13, that results from paternal deletion (DEL 15, 70%), maternal uniparental disomy (UPD 15, 15–30%) or imprinting center defect (IC, estimated for 1%) [ 1 , 2 , 3 ].…”

Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers : a Chinese cross-sectional study

“…The effect size between non-MDT management group and MDT group was moderate, but still indicates signi cant clinical bene ts of participation in the MDT group. As shown in previous studies of MDT management in other chronic diseases, such as tuberous sclerosis complex (TSC), Prader-Willi syndrome, pediatric chronic pancreatitis, pediatric medulloblastoma, and asthma, this approach is conducive to ensuring the best outcomes of disease, to improving patients' daily life, to reducing caregiver burden, and to decreasing healthcare load [48][49][50][51]. Low awareness of MDT health management interventions among caregivers often results in ignoring other system dysfunction symptoms, which may lead to delayed treatment of SMA.…”

Respiratory Syncytial Virus in Infants and Children with Prader-Willi syndrome

“…Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that conveys hypotonia, risk of obstructive and central sleep apnea, multiple endocrinopathies, and eating issues that change between infancy and adolescence/adulthood. PWS is considered a rare disease and affects approximately 1:15,000 -1:30,000 births [1,2]. With improved physician awareness of the syndrome as a cause of hypotonia, and improved genetic testing techniques, the diagnosis is often made within the first few months of life [1].…”