Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterised by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In new-borns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organisations, and from a parent to a PWS patient.
Table of Contents
Preface; Prader-Willi Syndrome: The First 50 Years; Genetic Basis, Genetic Testing & Genetic Counseling for Prader-Willi Syndrome; The Clinical Picture of PWS: Infancy; The Clinical Picture of PWS: Childhood; The Clinical Picture of PWS: Adulthood; Traits & Conditions in People with PWS; Behaviour & Psychiatric Conditions in People with PWS; Incontinence in People with PWS; The Endocrine System in PWS; Skeletal & Muscle Function in PWS; Nutritional Issues & their Management in PWS; Growth Hormone Treatment in Children with PWS; Growth Hormone Treatment in Adults with PWS; Management of Hypogonadism in Prader-Willi Syndrome; Treatment of Hypothyroidism; Treatment of Hypocortisolism; Physical Training; Understanding & Managing Behaviour in PWS; Coordination of the Multidisciplinary Treatment Efforts; Patients & Parents Supporting Organisations for People with Prader-Willi Syndrome; Patients & Parents Supporting Organisations: The Danish Experience; The International Prader-Willi Syndrome Organisation (IPWSO); A Lifetime with PWS; Index.