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

Abstract

Background: Prader–Willi syndrome (PWS) is a rare, neurodevelopmental, genetic disease caused by the lack of expression of paternal genes in chromosome 15. The typical characteristics, including hyperphagia, muscular hypotonia, abnormal body composition, hormonal deficiencies, cognitive disabilities, and behavioral problems, appear or worsen in young adults, and the development of comorbidities increases. The transition of care of young adults with PWS is a challenge due to the complexity of the disease and the vulnerability of the patients. Multidisciplinary transition clinics are optimal but difficult to implement in clinics with few transitions. Methods: The description of transition care meetings was limited to the pediatric and adult endocrinologists and nurses. The presentation of our checklist was developed to optimize the organization of the transition of young adults with PWS. Results: Two to four patients with PWS are transferred to adult care every year in our hospital. Transition with the adapted program was more comfortable for patients and identification of the individual patient’s comorbidities and special needs could clearly be addressed. Conclusions: In smaller settings, an adapted model including a proper introduction and presentation of the adult team and clinic, careful information about comorbidities and special needs, together with a checklist can optimize the transition of care to adult care.

Maple syrup urine disease decompensation misdiagnosed as a psychotic event

“…Transition of care poses significant challenges for our patients and the clinical team, and the need for improved transition will likely continue to increase with improved diagnostic and treatment methods. It is not only unique to the IEM patient population, but it is applicable to all conditions that require chronic lifelong care [ [22] , [23] , [24] , [25] , [26] ]. There are a number of potential interventions and systems that have been proposed including but not limited to creation of continuing medical education (CME) programs, education and training healthcare professionals from all disciplines and non-healthcare professionals such as teachers and caregivers, use of smart cards to provide immediate access to a patient's medical history and information for emergency use, and/or mobile apps [ [22] , [23] , [24] , [25] , [26] ].…”

A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care

“…Eleven subjects did not provide information on sex (Table 1). The median age of patients was 14 years (IQR: [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] and ranged between 0 and 48 years (Fig. 1A), with 162 subjects being equal to or older than 18 years, who were hereafter referred to as adult patients.…”

“…Although the majority of children with PWS are treated with GH, which allows for the provision of frequent and sustained interventions by the multidisciplinary team, the multidisciplinary team approach is generally difficult to implement during adulthood, which is partly due to the lack of a structured transitional care program for PWS [12,15]. Transitional care is a process during which dedicated health care programs are provided when care is transferred from pediatric to adult caregivers [16]; however, transitional care in PWS has been difficult and challenging because of the multisystem nature of this disorder, which includes cognitive and psychiatric symptoms [15,17].…”

Facilitating the transition from paediatric to adult care in endocrinology: a focus on growth disorders

“…The benefits of care coordinators have been studied in AYAs with PWS. In one study, a transition model employed a dedicated adult nurse to meet with the AYA and family in the paediatric setting, complete a transition checklist at that visit and facilitate the transfer and orientation to the adult endocrinology clinic as a strategy for when multidisciplinary transition models are not feasible [70].…”