Orphanet journal of rare diseases
Hyperphagia in Prader-Willi syndrome: linking hypothalamic dysfunction to clinical assessment and management across the lifespan
Par Tauber M, Diene G, Poitou C et 16 autres.
Contenu en anglais
Résumé
Background
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder characterised by hypothalamic dysfunction and profound dysregulation in hunger and appetite regulation, endocrine function, metabolism and behaviour. Hyperphagia is a defining clinical feature and a major contributor to morbidity, mortality and caregiver burden. Increasing evidence suggests that hyperphagia in PWS represents a multidimensional disorder rather than excessive appetite alone.



