The genetics, diagnosis, and management of Prader-Willi syndrome

The Human Genome Project, molecular genetic technology, and other ongoing research into our genetic makeup are having a profound effect on the work of primary care clinicians. New knowledge of inheritance patterns and diagnostic tests, leading to management changes, becomes available almost daily. The diagnosis and management of Prader-Willi syndrome is no exception. A few years ago diagnosis was dependent on the clinical manifestation of behavioral and physical stigmata, and a definitive diagnosis often was missed or delayed for years. Current laboratory procedures play a prominent role in confirming this condition, and diagnosis in neonates is now possible, but diagnosis is often delayed because of clinicians' lack of familiarity with the disorder. Management varies with the age of the patient and the degree to which the disease is manifest. Sensitive care with lifelong surveillance is required. Well- informed nurse practitioners working in primary care can play an important role in early detection, care coordination, education, and long-term management for persons with Prader-Willi syndrome.