Annotation Over the past years, research into the Prader-Willi syndrome (PWS) and its treatment options has progressed enormously and new insights have greatly improved the quality of life of those affected. For many years, Urs Eiholzer has been engaged in the care of children with PWS and their families. He has published a great number of seminal scientific articles and contributions and supports a comprehensive, integrated treatment approach, taking into account both the biological and the psychological aspects of the syndrome. This easily understandable book is specifically suited for non-professionals and presents the clinical picture of the syndrome, its genetic cause, state-of-the-art research results and treatment options as used in the author's out-patient clinic. The text is illustrated with graphics and complemented by an abundance of pictures. This publication addresses not only the family members of the affected children, but also those who have contact with them - from the neighbor to the pediatrician.

Over the past years, great advances have been made in the research of Prader-Willi Syndrome and its treatment options. The results raise hopes that the once depressing outlook for children with PWS and their parents will gradually give way to a much improved quality of life. Clinical research has shown that there is a hypothalamic growth hormone deficiency in PWS and that growth hormone treatment improves body composition, body proportions and physical performance of patients. Increased lean body mass enhances energy expenditure and - provided the energy input can be restrained - children no longer become obese. The disappearance of the obese phenotype in children with PWS who are treated with growth hormone starting before puberty prevents stigmatisation of children and their families in society. The mental retardation and the compulsive behavior disorder will however remain major handicaps which seemingly cannot be influenced by growth hormone therapy. This book provides an overview of the clinical research results as to hormones and metabolism of PWS with special emphasis on growth hormone and growth hormone treatment. Besides the outstanding scientific texts, this volume offers comprehensive photographic material to document the development of selected patients over several years and to illustrate extreme individual changes in the physical appearance and facial expression.

Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs. Information about the syndrome is spread across a variety of disciplines. In this book the authors seek to identify and provide the latest findings about how best to manage the complex medical, nutritional, psychological, educational, social and therapeutic needs of people with PWS. Their approach is an integrated one, centred on the PWS phenotype. Both authors have been involved in the Cambridge PWS study, which is the largest and most rounded of the cohort studies of PWS anywhere in the world. The unique data it provides is the basis of this book.

Almost fifty years ago, in 1956, three researchers of the University of Zurich, Andrea Prader, Alexis Labhart and Heinrich Willi, first described what is now called the Prader-Willi Syndrome (PWS). The study and the therapy of this syndrome have progressed so rapidly in the past years that the decision was made to share recent advances with the scientific community and to address topics of future research at an international meeting. The results of this meeting are presented in this book. PWS results from a paternally derived deletion or an imprinting defect on chromosome 15. During their first two years of life patients with PWS suffer from muscle weakness, feeding problems and developmental delay. From the age of two years onwards they develop an almost insatiable appetite and suffer from obesity, short stature, hypogonadism and behavior problems. As it is becoming increasingly obvious that PWS is a multisystemic disorder, improving the quality of life of patients and their families requires broad professional support. While growth hormone therapy influences growth and body composition, many other problems such as insufficient satiation, hypoactivity, behavioral difficulties, speech problems and mental retardation remain to be addressed. Parents need psychological support in their daily battle against the eating disorder and the behavioral problems of their child. A comprehensive team approach will yield the best results for both patients and their parents. PWS research may also contribute to basic medical research by providing new insights into the metabolism of obese patients, whose obesity is caused by factors other than PWS. In this way, PWS may be used as a model for obesity.

Now in a fully revised and updated fourth edition, this book remains the most comprehensive resource on Prader-Willi syndrome (PWS) available on the market. There have been significant changes in the diagnosis, clinical care and treatment of PWS since the previous edition was published in 2006, and more thorough information on understanding the cause and diagnosis of the condition, along with clinical presentation and findings with natural history data now available. The book is divided into three thematic sections. Part One discusses the genetics, diagnosis, research and overview of PWS, including current laboratory testing. The medical physiology and treatment of PWS comprise Part Two, covering the GI system, obesity as well as the use of growth hormone. Part Three, the largest section, presents a wide-ranging, multidisciplinary management approach to PWS, attending to the many manifestations of the condition. Topics here include neurodevelopmental aspects, speech and language disorders, motor issues, psychological and behavioral management, educational and transitional considerations, vocational training and residential care, and advocacy for both school discipline and sexuality. Syndrome-specific growth charts, benefits eligibility information and additional resources are included in helpful appendices. Timely and well-crafted, this latest edition of Management of Prader-Willi Syndrome remains the gold standard for clinicians and health care providers working with patients diagnosed with this rare obesity-related genetic disorder.

Management of Prader-Willi Syndrome is the first book to provide a comprehensive source of knowledge about Prader-Willi Syndrome and to offer common-sense guidelines for management. It consists of contributions from professionals in many health and allied disciplines who have worked with this special population. The book focuses on clinical, social, familial, and community issues related to care. It is directed to health, education, and other specialists in academic, clinical, and community settings. Management of Prader-Willi Syndrome describes strategies for management which are appropriate to an interdisciplinary approach.

Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.