PRADER-WILLI SYNDROME: A LITERATURE REVIEW

Abstract

This literature review gathered medical books and articles published preferably in English, Spanish, French and Portuguese in the last five years in the PUBMED and SciELO databases with the main objective of reviewing Prader-Willi Syndrome (PWS), indicating its diagnosis, clinical manifestations and management. PWS is a rare genetic condition characterized by neonatal hypotonia, followed by hyperphagia and obesity. Individuals with PWS often present intellectual disability and behavioral disorders. PWS is caused by the deletion or inactivation of paternal genes on chromosome 15. Diagnosis involves clinical evaluation and genetic testing. PWS management requires a multidisciplinary team, focusing on nutritional intervention, hormonal and behavioral therapy. Regular medical follow-up is crucial for managing complications and optimizing quality of life. Despite the challenges, early interventions and adequate support allow individuals with PWS to reach their maximum potential and have a full life.