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 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.


Merlin G. Butler, MD, PhD, Director, Division of Research and Genetics, Director, KUMC Genetics Clinic, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA

Phillip D. K. Lee, MD, Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA

Barbara Y. Whitman, PhD, Department of Pediatrics, Saint Louis University, Saint Louis, MO, USA


Part I: Diagnosis and Genetics of Prader-Willi Syndrome
1. Clinical Findings and Natural History of Prader-Willi Syndrome
2. Diagnostic Criteria for Prader-Willi Syndrome
3. Molecular Genetic Findings in Prader-Willi Syndrome
4. Laboratory Testing for Prader-Willi Syndrome

Part II: Medical Physiology and Treatment of Prader-Willi Syndrome
5. Medical Considerations in Prader-Willi Syndrome
6. Gastrointestinal System, Obesity, and Body Composition
7. Growth Hormone and Prader-Willi Syndrome

Part III: Multidisciplinary Management of Prader-Willi Syndrome
8. Neurodevelopmental and Neuropsychological Aspects of Prader-Willi Syndrome
9. Speech and Language Disorders Associated with Prader-Willi Syndrome
10. Motor and Developmental Interventions for Prader-Willi Syndrome
11. Educational Considerations for Children with Prader-Willi Syndrome
12. Tools for Psychological and Behavioral Management with Prader-Willi Syndrome
13. Educational and Social Issues for Adolescents with Prader-Willi Syndrome
14. Transition from Adolescence to Young Adulthood: The Special Case of Prader-Willi Syndrome

15. Vocational Training for People with Prader-Willi Syndrome
16. Residential Care for Adults with Prader-Willi Syndrome
17. Inpatient Crisis Intervention for Persons with Prader-Willi Syndrome
18. Social Work Interventions: Advocacy and Support for Families with Prader-Willi Syndrome
19. A National Approach to Crisis Intervention and Advocacy with Prader-Willi Syndrome
20. Advocacy Issues with Prader-Willi Syndrome: School Discipline and Expulsion
21. Advocacy Issues with Prader-Willi Syndrome: Sexuality