Prader-Willi Syndrome


Charlotte Höybye (Editor)
Senior consultant, Associate professor
Department of Endocrinology, metabolism and Diabetology, Karolinska University Hospital Stockholm, Sweden

Series: Congenital Disorders – Laboratory and Clinical Research, Genetics – Research and Issues
BISAC: MED107000

Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterized 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 newborns 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 advice. 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 organizations, and from a parent to a PWS patient. (Imprint: Nova Biomedical )

Table of Contents

Table of Contents


Section 1: Introduction to PWS

Chapter 1. Prader-Willi Syndrome: The First 50 Years
(Martin Ritzen, Karolinska Institutet, Stockholm, Sweden)
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Section 2: Genetics in PWS

Chapter 2: Genetic Basis, Genetic Testing and Genetic Counseling
for Prader-Willi Syndrome
(Merlin Butler and Suzanne Cassidy, University of California, San Francisco, CA, USA, and others)

Section 3: The Clinical Picture of PWS

Chapter 3. The Clinical Picture of PWS: Infancy
(Jennifer Miller, University of Florida, FL, USA)

Chapter 4: The Clinical Picture of PWS: Childhood
(Maithé Tauber and Berthold P. Hauffa, Hôpital des Enfants, Toulouse, France, and others)

Chapter 5: The Clinical Picture of PWS: Adulthood
(Hariette Rosen Mogul, New York Medical College, NY, USA)

Section 4: Specific Issues in PWS

Chapter 6: Traits and Conditions in People with PWS
(Joyce Wittington and Antony Holland, University of Cambridge, Cambridge, UK, and others)

Chapter 7: Behaviour and Psychiatric Conditions in People with PWS
(Joyce Wittington and Antony Holland, University of Cambridge, Cambridge, UK, and others)

Chapter 8: Incontinence in People with PWS
(A. von Gontard, M. Equit and L. M. G. Curfs, Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany, and others)

Chapter 9: The Endocrine System in PWS
(Graziano Grugni, Italian Auxological Institute Foundation, Verbania, Italy)

Chapter 10: Skeletal and Muscle Function in PWS
(Nathalie Alos, Thomas Edouard and Cheri Deal, University of Montreal, Montreal, Canada, and others)

Section 4: Specific Treatment Strategies in PWS

Chapter 11: Nutritional Issues and their Management in PWS
(Glenn Barell, Karen Balko and Alexander Viardot, North York General Hospital, Canada, and others)

Chapter 12: Growth Hormone Treatment in Children with PWS
(N.E. Bakker and A. C. S. Hokken-Koelega, Erasmus Medical Center- Sophia Children’s Hospital, Rotterdam, The Netherlands)

Chapter 13: Growth Hormone Treatment in Adults with PWS
(Charlotte Höybye and Jens Sandahl Christiansen, Karolinska University Hospital, Stockholm, Sweden, and others)

Chapter 14: Management of Hypogonadism in Prader-Willi Syndrome
(Harry J. Hirsch, Talia Eldar-Geva1 and Varda Gross-Tsur, The Hebrew University School of Medicine, Jerusalem, Israel, and others)

Chapter 15: Treatment of Hypothyroidism
(Stense Farholt, Aarhus University Hospital Skejby, Aarhus, Denmark)

Chapter 16. Treatment of Hypocortisolism
(Stense Farholt, Aarhus University Hospital Skejby, Aarhus, Denmark)

Chapter 17: Physical Training
(Maria W.G. Nijhuis-van der Sanden, Linda Reus and Georgina Loughnan, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands, and others)

Chapter 18: Understanding and Managing Behaviour in PWS
(Barbara Y. Whitman, St. Louis University School of Medicine, MI, USA)

Chapter 19: Coordination of the Multidisciplinary Treatment Efforts
(Annick Vogels and Elly Scheermeyer, University Hospitals Leuven and Department of Human Genetics, Leuven, Belgium, and others)

Section 5: Patients and Parents Supporting Organisations

Chapter 20: Patients and Parents Supporting Organisations for People with Prader-Willi Syndrome
(Børge Troelsen, Denmark)

Chapter 21: Patients and Parents Supporting Organisations: The Danish Experience
(Susanne Blichfeldt, Herlev University Hospital, Denmark)

Chapter 22: The International Prader-Willi Syndrome Organisation (IPWSO)
(Suzanne B. Cassidy and Giorgio Fornasier, The International Prader-Willi Syndrome Organisation (IPWSO))

Chapter 23: A Lifetime with PWS
(Jean Phillips-Martinsson, UK-Sweden)


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