title: Prader-willi syndrome: clinical aspects.
abstract: Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2-q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.
authors.affiliation: Endocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, Italy.
authors.forename: Grechi
authors.initials: G
authors.lastname: Elena
authors.forename: Cammarata
authors.initials: C
authors.lastname: Bruna
authors.forename: Mariani
authors.initials: M
authors.lastname: Benedetta
authors.forename: Di Candia
authors.initials: DC
authors.lastname: Stefania
authors.forename: Chiumello
authors.initials: C
authors.lastname: Giuseppe