Abstract
ContextThe transition of patients with Prader–Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities.ObjectiveTo assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n = 31) or not (n = 64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team.Patients and study designHormonal and metabolic parameters were retrospectively recorded in 95 adults with PWS (mean ± s.d. age 24.7 ± 8.2 years, BMI: 39.8 ± 12.1 kg/m²) referred to our Reference Center and compared according to transition.ResultsAmong the entire cohort, 35.8% received growth hormone (GH) during childhood and 16.8% had a GH stimulation test after completion of growth. In adulthood, 14.7% were treated with GH, 56.8% received sex-hormone therapy, whereas 91.1% were hypogonadic and 37.9% had undergone valid screening of the corticotropic axis. The main reason for suboptimal endocrine management was marked behavioral disorders. Patients receiving transitional care were more likely to have had a GH stimulation test and hormonal substitutions in childhood. They also had a lower BMI, percentage of fat mass, improved metabolic parameters and fewer antidepressant treatments. Transitional care remained significantly associated with these parameters in multivariate analysis when adjusted on GH treatment.ConclusionA coordinated care pathway with specialized pediatric care and transition to a multidisciplinary adult team accustomed to managing complex disability including psychiatric troubles are associated with a better health status in adults with PWS.
Highlights
Prader–Willi syndrome (PWS) is a complex developmental genetic disorder including obesity with hyperphagia, psychiatric disturbances, endocrine and metabolic disorders [1, 2]
About one-third of patients of the cohort received Growth hormone (GH) treatment during childhood, but two times more patients of the transition group had GH treatment than those without transition. This difference remained significant after exclusion of patients for whom the diagnosis of PWS was received after the age of 15 years (exclusion of 14 patients (14.7%), 61.5% vs 31.8%, P = 0.02)
We show that a coordinated care pathway with specialized pediatric care and organized transition from a pediatric hospital to a Reference Center with PWS is associated with improved endocrine, metabolic, anthropometric and psychiatric traits in adulthood
Summary
Prader–Willi syndrome (PWS) is a complex developmental genetic disorder including obesity with hyperphagia, psychiatric disturbances, endocrine and metabolic disorders [1, 2]. The transition of patients with PWS from adolescence to adult life is challenging for medical care because of multiple comorbidities, behavioral problems, specific skills required of the medical team and lack of an established scheme for the change from pediatric to adult medical teams. Endocrine disorders in PWS patients are part of a complex presentation including severe neonatal hypotonia and poor feeding skills, excessive weight gain at an early age and subsequent development of obesity with hyperphagia and lack of satiety in children, cognitive disabilities and psychiatric features [3]. Teenagers with PWS are vulnerable, because this transition time is characterized by the emergence or worsening of many comorbidities, such as hyperphagia, behavioral disorders, scoliosis [12] and obesity-related complications [11], together with a strong feeling of the differences between them and their peers. Behavioral disorders, including obsessiveness, temper outbursts, emotional lability and skin picking, often increase in late adolescence and early adulthood [14]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
