Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

Abstract

Prader-Willi syndrome (PWS) represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many persons with PWS live longer and survive to adulthood. Currently, because of the many physical and behavioral manifestations, transitional health care is not easy for these patients and is considered a very important issue. Moreover, very few studies have examined these transitional problems in young adults with PWS. In recent years, there has been great interest in improving transition planning and support for young people with PWS reaching adulthood. In this article, we underline the main clinical problems in transition and give some advice to make this period less difficult and easier for adolescents with PWS. Special attention should be paid to obesity, diabetes mellitus, hypertension, osteoporosis, and sleep apnea during the period of transition. In PWS, for an effective transition from childhood to adulthood, a multidisciplinary team is needed, and should maintain the same approach to food, environment, and psychiatric issues. For comprehensive care, it is necessary to involve adult endocrinologists and other medical specialists in conjunction with the pediatric team. Parental involvement is, however, a great help for supervising adolescents with PWS during this particular period.

An Adapted Model for Transition to Adult Care in Young Adults with Prader–Willi Syndrome

“…Young adults with PWS are confronted with several new requirements, challenges, and responsibilities. Neurocognitive dysfunctions such as poor concentration, endurance, memory, attention, and flexibility become increasingly evident and problematic, although most of the patients do not report the problems themselves [ 3 , 7 ]. In situations with increased stress and uncertainty, a tendency for temper outbursts, repetitive and ritualistic behaviors, and skin picking may occur more frequently.…”

“…Young adults with UPD have a higher prevalence of psychoses and autism but better verbal skills, and the differences between patients with UPD and deletions become more apparent during adolescence and early adulthood [ 8 ]. Most of the young adults express a wish to live on their own and get a job, but in general, adults with PWS are unable to live independently and cannot manage competitive jobs [ 7 ].…”

“…The ubiquitous risk of obesity in PWS increases the risk of development of diseases secondary to obesity, such as diabetes and cardiovascular diseases, and the weight prevention provided by physical activity is therefore important. Because of the increased risk of low bone mineral density and high frequency of scoliosis in PWS, physical activity is particularly important for these patients [ 3 , 7 , 10 ]. Furthermore, physical activity might have a positive impact on mental health, the ability to concentrate and learn [ 11 ], and the level of endorphins [ 12 ].…”

“…Adult care is usually not as integrated and often consists of different specialists working in different departments or even in different hospitals. For all ages, the focus of care is on the prevention and treatment of comorbidities, as well as on auxology during childhood [ 7 ]. Furthermore, in the adult care setting, patients are expected to have sufficient maturity to take more responsibility for the implementation of their own care than they are in the pediatric care setting.…”

“…In the literature, collaboration between pediatric and adult multidisciplinary teams is recommended for an optimal transition of young adults with PWS [ 3 , 4 , 7 ]. It has clearly been shown that a coordinated care pathway with specialized pediatric care and an organized transition from a pediatric hospital to a reference center for PWS is associated with improved endocrine, metabolic, anthropometric, and psychiatric traits in adulthood [ 3 ].…”