Abstract
Prader–Willi syndrome (PWS) is a genetic disorder caused by a lack of expression of the paternally inherited chromosome 15q11.2-q13. PWS is a serious medical and social problem that requires the attention of a wide range of specialists. PWS is characterized by variability of symptoms and complex disease progression. The main clinical manifestation of the syndrome is severe hypotonia, or “floppy baby syndrome”, which is typical for the neonatal period. As a child grows, hyperphagia appears with the development of morbid obesity, as well as delay in growth, neuropsychiatric and sexual development, behavioral disorders, and cardiopulmonary complications. The diagnosis of the disease is based on clinical criteria and molecular genetic testing. The treatment of PWS is symptomatic. In addition to the use of growth hormone, examinations are carried out to evaluate the efficacy and safety of other groups of pharmacological agents for the treatment and correction of existing symptoms and complications of PWS. Timely diagnosis improves long-term outcomes and quality of life of children with this genetic pathology. The article presents current approaches to the diagnosis and management of patients with PWS. Key words: Prader–Willi syndrome, floppy baby syndrome, stigmas of dysembryogenesis, hypotonia, hyporeflexia, obesity, hyperphagia, neurodevelopmental disorders, hypogonadism
Published Version
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