Management of Prader-Willi Syndrome: Under the Sponsorship of The Prader-Willi Syndrome Association PDF
Preview Management of Prader-Willi Syndrome: Under the Sponsorship of The Prader-Willi Syndrome Association
Management of Prader-Willi Syndrome Louise R. Greenswag Randell C. Alexander Editors Management of Prader-Willi Syndrome Under the Sponsorship of The Prader-Willi Syndrome Association Springer-Verlag New York Berlin Heidelberg London Paris Tokyo Louise R. Greenswag, R.N., PH.D. Adjunct Professor, College of Nursing Program Consultant for Prader-Willi Syndrome Iowa Child Health Specialty Clinics University Hospital School The University of Iowa Hospitals and Clinics Iowa City, Iowa 52242, USA Randell C. Alexander, M.D., PH.D. University Hospital School The University of Iowa Hospitals and Clinics Iowa City, Iowa 52242, USA Library of Congress Cataloging-in-Publication Data Management of Prader-Willi syndrome I edited by Louise R. Greenswag, Randell C. Alexander. p. cm. Bibliography: p. Includes index. 1. Prader-Willi syndrome. 1. Greenswag, Louise R. II. Alexander, Randell C. RJ520.P7M36 1988 618.92'0043-dc19 87-37640 © 1988 by The Prader-Willi Syndrome Association. All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer-Verlag, 175 Fifth Avenue, New York, NY 10010, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, com puter software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use of general descriptive names, trade names, trademarks, etc. in this publication, even if the former are not especially identified, is not to be taken as a sign that such names, as understood by the Trade Marks and Merchandise Marks Act, may accordingly be used freely by anyone. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warran ty, express or implied, with respect of the material contained herein. Typeset by Asco Trade Typesetting Ltd., Hong Kong. 9 8 7 6 5 432 1 ISBN-13: 978-1-4684-0318-3 e-ISBN-13: 978-1-4684-0316-9 DOl: 10.1 007/978-1-4684-0316-9 To children with Prader-Willi syndrome and their families, and to Sidney Greenswag and Carol Alexander for their encouragement and patience. Foreword I have had a major interest in Prader-Willi syndrome (PWS) for over 30 years and, having dealt with many patients, have reached the conclusion that PWS is one of the two most grave ailments I have encountered-the other being Huntington's Disease (HD). Anyone who has witnessed the mood swings and the relentless, progressive, intellectual, and physical deterioration associated with HD would agree beyond a doubt that it is a devastating condition. PWS is an equally devastating birth defect that characteristically presents major problems from birth. The enormous diffi culties associated with the first phase of PWS cause frustration and guilt in mothers who perceive themselves as inept at feeding and nurturing their affected child. This guilt intensifies during the second phase, as PWS chil dren constantly appear plagued by a relentless hunger that dominates their lives. The presence of this insatiable urge to eat, which is beyond the con trol of the patient, his family, or physician, becomes the primary focus for the child and inhibits all other activities and interests. In addition to the issue of satiety, a PWS child faces a life of sexual incompetence. Reactions to these problems are further aggravated by hypothalamic dysregulation, which seems to affect temperament. It is not surprising, therefore, that emotional incontinence increases in severity and frequency as the PWS child grows older. Parents, usually unable to manage diets, food-seeking activities, and bizarre behavior, become distraught and emotionally drained. Family systems deteriorate and life becomes hell for all con cerned. In my experience, parents of PWS children come to the physician's office in great distress and total despair more often than parents of children with any other birth defect. They speak of their helplessness, the sacrifices of other family members, their love for their affected child, and their con cerns about the future. One common theme is the reluctance of many pa rents to consider alternative living arrangements. This may reflect attempts at denial that a problem exists with which they cannot cope. Fortunately, effective management, even for the most severe cases, is a realistic possibil ity, particularly after parents are finally able to accept the fact that the family home is not the best place for the affected adolescent or adult. viii Foreword It has taken years to recognize that solutions to the multifaceted prob lems of PWS require the expertise of many specialists-pediatricians, neurologists, endocrinologists, nutritionists, psychologists, nurses, special education consultants, speech therapists, physiotherapists, and occupa tional therapists-all play important, collaborative roles in the lives of PWS individuals and their families. This book is the result of the realization of its editors that a cooperative effort is needed to ensure appropriate interventions. They were able to assemble an array of experts, each of whom presents suggestions for how a specific discipline can best help. The book gives useful directions to all of those involved in the care of children and adults with PWS, not least to the parents. It may not only help to provide a sophisticated treatment program for PWS, but it may also encourage specialists to collaborate to help the PWS individuals and their families to carry their lot. Iowa City, Iowa HANS ZELLWEGER, M.D. Preface Ten years after Hans Zellweger started a registry of newborns with the characteristic of hypotonia (floppy babies), Prader-Willi syndrome was de scribed as a subset of that group. During the next 20 years, a modest num ber of new cases was added to the literature, but no success was achieved in creating an awareness among the medical community that this unusual dis order existed. For the few families that had been given the diagnosis, there was little else to offer. This was the situation in 1975, nearly 30 years after Dr. Zellweger's initial efforts, when Gene and Fausta Deterling were told that their new born son, Curtis, had the condition. To be told that physicians knew little about the problem and even less about what to do, either for those with the affliction or for their families, became an unacceptable obstacle. The Deterling's efforts stimulated the formation of the Prader-Willi Syn drome Association. This association has become more than just a parent support group and now focuses not only on Prader-Willi persons, but on assisting their families, informing concerned professionals, and educating the public. Louise R. Greenswag and Randell C. Alexander bring further insight and expanded recognition of the multifacted characteristics of Prader-Willi syndrome. They accomplish this not merely by description but, most im portantly, by gathering together experiences gained during the past de cade. Does one dare to hope that the years to come will continue to be as fruitful, perhaps with the development of genetically engineered treat ments for this type of disorder? Portola Valley, California DELFIN J. BELTRAN, M.D. Acknowledgments A great many people have made valuable contributions directly and indirectly to the development of this volume. First and foremost, our debt to the Prader-Willi Syndrome Association (PWSA) is deep and lasting. This book exists because this remarkable organization of parents and pro fessionals shared our vision. We are grateful to the PWSA Board of Direc tors for their willingness to contribute generous financial support in the preparation and publication of the text and for their intellectual and per sonal encouragement. Special thanks are due to Marge Wett, Executive Director of PWSA, who spent innumerable hours reviewing content and provided extensive assistance and valuable feedback. We wish to acknowledge the authors of each chapter who graciously and without remuneration took the time to contribute their expertise despite heavy professional and personal commitments. We are especially indebted to M. Joan Soucek for her technical assis tance "par excellence," for her patience, endurance, and perseverance dur ing every step in the preparation and refinement of the manuscript. Appre ciation is extended to The University of Iowa Hospitals and Clinics-the Department of Medical Genetics and the Department of Pediatrics, Division of Developmental Disabilities-and particularly to Janice L. Held for her technical assistance and to Richard T. Huber for his outstanding graphic art. Credit is due to the people at Springer-Verlag, who offered numerous important suggestions for additions and revisions. Very special thanks are extended to Dr. Hans Zellweger and Dr. James Hanson. Their personal commitment, in addition to their contributions to the text, gave us an extra measure of inspiration. They served as both teachers and friends. We are primarily indebted to the children born with this unusual birth defect and to their families who allowed us access to their struggles and brought us to a deeper understanding of the condition known as Prader Willi syndrome. LOUISE R. GREENSWAG, R.N., PH.D. RANDELL C. ALEXANDER, M.D., PH.D. Contents Foreword by HANS ZELLWEGER .................................... VB Preface by DELFIN J. BELTRAN ..................................... ix Acknowledgments ................................................ xi Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xv Introduction ...................................................... xvii PART I Physiological and Genetics Considerations Chapter 1 Overview. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 RANDELL C. ALEXANDER and JAMES W. HANSON Chapter 2 Differential Diagnosis in Prader-Willi Syndrome ...... 15 HANS ZELLWEGER Chapter 3 Hypogonadism and Osteoporosis ..................... 23 KAREN RUBIN and SUZANNE B. CASSIDY Chapter 4 Genetics Evaluation and Counseling for Prader-Willi Syndrome ........................................... 34 ELIZABETH J. THOMSON PART II A Case Presentation Chapter 5 A Case Study: A Chronology of Hope 41 JACK SHERMAN and GERALD ENTE Chapter 6 A Team Approach to Case Management ..... . . . . . . . . . 52 LOUISE R. GREENSWAG and RANDELL C. ALEXANDER Chapter 7 Medical and Nursing Interventions ................... 55 RANDELL C. ALEXANDER and LOUISE R. GREENSWAG PART III The Interdisciplinary Process Chapter 8 Dental Manifestations and Management .............. 71 ARTHUR J. NOWAK xiv Contents Chapter 9 Nutritional Management ............................. 76 DIANE D. STADLER Chapter 10 Psychological and Behavioral Management ........... 99 STEPHEN SULZBACHER Chapter 11 Education of the Child with Prader-Willi Syndrome 113 MARSHA H. LUPI Chapter 12 Speech and Language Development .................. 124 JOYCE A. MUNSON-DAVIS Chapter 13 Physical and Occupational Therapy for Prader-Willi Syndrome ........................................... 134 MARY ALICE DUESTERHAUS MINOR and TRUE CARR Chapter 14 Vocational Concepts in Prader-Willi Syndrome ....... 142 JAMES TIMOTHY INWOOD Chapter 15 The Role of the Social Worker........................ 154 JAMES F. PORTER PART IV The Socialization Process Chapter 16 Social Skills Training . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165 WILLIAM MITCHELL Chapter 17 Understanding Psychosexuality. . . . . . . . . . . . . . . . . . . . . . . 171 LOUISE R. GREENSW AG Chapter 18 A Parent's Point of View ............................. 182 JANALEE TOMASESKI-HEINEMANN PART V Delivery of Services Chapter 19 Advocacy and Change: A Primer for Parents. . . . . . . . . . 197 RALPH NEWBERT Chapter 20 Residential Programs for Individuals with Prader-Willi Syndrome ........................................... 205 DOROTHY G. THOMPSON, LOUISE R. GREENSWAG, and RHETT ELEAZER Chapter 21 A National Parent Network: The Prader-Willi Syndrome Association 223 MARJORIE A. WETT Glossary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 231 Suggested Readings .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 233 Appendices . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 235 Index............................................................. 303
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