Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

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.

MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity

“…The transition between pediatric and adult care is a critical moment, often associated with breakdowns in both medical and social support, especially if cognitive disorders or intellectual impairment are in the foreground. These aspects are all very demanding and an adult life project, the integration of social structures, and comprehensive and coordinated care should be taken into consideration (52). Caregivers must carefully consider the pediatric-to-adult transition step, which requires a particular effort for the future of adolescents suffering from genetic obesity, as behavioral problems and obesity frequently worsen in this critical period.…”

Long‐term weight control in adults with Prader‐Willi syndrome living in residential hostels

“…In a study of PWS adults, Dykens found that BMI did not decrease with increasing age (Dykens, 2004). Paepagaey et al, investigated the effect of a coordinated program of transition from pediatric to adult medical care for a group of 95 individuals with PWS whose mean age was 24.7 ± 8.2 years and BMI was 39.8 ± 12.1 kg/m 2 (Paepegaey et al, 2018). The group whose transition to adult care was well‐coordinated had a mean BMI of 32.5 ± 7.8 kg/m 2 than those without transition whose BMI was 43.4 ± 12.3 kg/m 2 .…”

Endocrine treatment in Prader-Willi Syndrome: a case report of two monozygotic twins

“…O SPW é uma patologia complexa que necessita de uma abordagem global, que tenha em conta as suas questões médicas, psiquiátricas, nutricionais e sociais que só pode ser alcançada através de equipas multidisciplinares. 15 Ao Endocrinologista cabe a gestão da obesidade e das complicações metabólicas associadas, bem como a avaliação e reposição dos múltiplos défices endócrinos, nomeadamente o hipotiroidismo, hipogonadismo, hipocortisolismo e DHC. Nos casos descritos, os gémeos apresentavam hipogonadismo, atraso de crescimento e alteração da composição corporal.…”