ESPE Abstracts

Prader-Willi syndrome (PWS) is a complex genetic disorder which affects endocrine and neurological systems, metabolism and behaviour. In the neonatal period PWS is characterised by hypotonia, and resultant failure to thrive, whilst in childhood hyperphagia and obesity typically predominate. Patients can develop hypothalamic dysfunction and a range of endocrinopathies, including growth hormone deficiency, hypogonadism and hypothyroidism. Patients with PWS benefit from early and consistent endocrine care from infancy to adulthood. Early use of growth hormone, irrespective of baseline growth hormone secretion has been shown to have a range of benefits for patients including linear growth, increased lean muscle mass, motor development and increased energy expenditure. Leeds Children’s Hospital has developed a multi-disciplinary regional clinic to address the complex needs of patients with PWS. Patients with PWS have evolving nutritional, medical, social and psychosocial needs, and management requires collaboration with community and local services as well as other hospital based medical teams. Clear care pathways used within multidisciplinary clinics have been shown to have positive benefits for patients and families, improving standards of care and ensuring consistency of care for all patients in the region.