Medical Considerations

Over the past three decades, a rapidly increasing wealth of information has accumulated regarding the medical pathophysiology and treatment of Prader-Willi syndrome (PWS). Clinical diagnostic criteria and acceptance of genetic diagnostic testing in the 1990s helped to focus clinical and research attention on a condition which had been largely disregarded as a defined clinical entity. The identification of a defect in the growth hormone (GH) system and, moreover, demonstration of GH treatment efficacy provided the first and, to date, only treatment for PWS to attain regulatory approval in 2000. Advances in molecular biology have provided valuable tools for linking genetic findings to phenotype. Although there has been considerable progress since the last edition of this book [1], there is a continuing lack of systematic information regarding many of the morbidities associated with PWS.