Prader-Willi Syndrome: Selected Research and Management Issues

117 Pages·1988·4.122 MB·English

by  James K. Luiselli, Ronald L. Taylor, Mary Lou Caldwell (auth.), Mary Lou Caldwell, Ronald L. Taylor (eds.)

Prader-Willi Syndrome
Mary Lou Caldwell Ronald L. Taylor
Editors
Prader-Willi Syndrotne
Selected Research and Management Issues
Springer-Verlag
New York Berlin Heidelberg
London Paris Tokyo
Mary Lou Caldwell
Ronald L. Taylor
Exceptional Student Education
Florida Atlantic University
Boca Raton, FL 33431-0991
USA
Library of Congress Cataloging-in-Publication Data
Prader-Willi syndrome.
Bibliography: p.
Includes indexes.
I. Prader-Willi syndrome. I. Caldwell, Mary Lou.
II. Taylor, Ronald L.. 1949-
RJ520.P7P74 1988 618.92'0043 87-37641
© 1988 by Springer-Verlag New York Inc.
Softcover reprint of the hardcover 1st edition 1988
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ISBN-13: 978-1-4612-8378-2 e-ISBN-13: 978-1-4612-3854-6
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Preface
Prader-Willi syndrome was identified initially in 1956. The characteristics
that were associated with Prader-Willi syndrome at that time were obesity,
mental retardation, short stature, hypotonia in infancy, and crypt
orchidism. Later, Prader and Willi added diminished fetal activity and a
tendency to develop diabetes to the list of characteristics. Even today, di
agnosis ofPrader-Willi syndrome is made primarily on the basis of clini
cal phenotype.
As more and more individuals were diagnosed as having Prader-Willi
syndrome, more attention was directed toward other characteristics (e.g.,
food-related behaviors) and management techniques, particularly related
to weight control. The majority of information about Prader-Willi syn
drome has come from case studies, parent reports, and other nonempiri
cal sources. Until relatively recently, there was a paucity of empirical
data-based studies investigating the diagnosis, characteristics, and man
agement of individuals with Prader-Willi syndrome. Even today, research
in this area is somewhat limited. Although much has been learned about
this low incidence condition since 1956, there is still much more to learn.
We are finding that some of the information about the syndrome has been
supported by research, while other information has been questioned. New
areas of research are investigating alternative and innovative methods of
identification and treatment Research related to the possible cytogenetic
basis for the syndrome, differential diagnosis, unique characteristics of
the syndrome, and the most effective management techniques has been
conducted and should continue.
This book focuses on selected research and management issues related
to Prader-Willi syndrome. It is not intended to be a comprehensive review
of the syndrome, nor a "how to" book on treatment and management. In
general, the book looks at the most recent advances in diagnosis, issues
related to several nonmedical characteristics of the syndrome, recent
research on a variety of management approaches, and the important area
of parental concerns.
vi Preface
We would like to thank all ofthose who were instrumental in develop
ing this book. Perhaps more importantly, we would like to thank those in
dividuals with Prader-Willi syndrome with whom we have had the oppor
tunity to work. Without them, the book would never have been conceived.
Contents
Preface.................................................. v
Contributors ............................................. ix
Chapter 1 Issues in Prader-Willi Syndrome: Diagnosis,
Characteristics, and Management .............. .
James K Luiselli, Ronald L. Taylor,
and Mary Lou Caldwell
Diagnosis ..................................... 2
Treatment ..................................... 5
Summary...................................... 10
Chapter 2 The Etiology of Prader-Willi Syndrome: Clinical
Impl'ications of the Chromosome 15
Abnormalities ................................. 13
David R Ledbetter and Suzanne B. Cassidy
Cytogenetic Basis for Prader-Willi Syndrome ......... 14
Clinical Implications of Cytogenetic Findings ........ 21
Future Research Directions ....................... 25
Summary...................................... 25
Chapter 3 Cognitive and Behavioral Characteristics ........ 29
Ronald L. Taylor
Cognition ..................................... 29
Adaptive and Maladaptive Behavior. . . . . . . . . . . . . . . . . . 33
Summary...................................... 38
Chapter 4 Management of the Problems ofInfancy: Hypotonia,
Developmental Delay, and Feeding Problems .... 43
Suzanne B. Cassidy
Hypotonia and Developmental Delay ............... 43
Management of Hypotonia and Developmental
Delay...................................... .. . 45
viii Contents
Management of Feeding Problems ................. 47
Other Management Issues of Early Infancy .......... 48
Summary...................................... 49
Chapter 5 Behavior Management and Intervention ......... 52
James K Luiselli
Methodology in Behavior Analysis and Therapy ...... 53
Behavioral Treatment of Problems Common to
Prader-Willi Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . 56
Behavioral Treatment in Prader-Willi Syndrome ...... 64
Summary..... ................... .............. 67
Chapter 6 Surgical Considerations in Prader-Willi
Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 73
Charles W. Wagner
Surgery for Obesity Control ....................... 74
Cosmetic Surgery ............................... 76
Scoliosis Surgery ........................ . . . . . . . . 77
Gonadal and Genetalia Surgery . . . . . . . . . . . . . . . . . . . . 77
Surgery for Miscellaneous Problems ................ 78
Anesthetic Considerations in Children with Prader-Willi
Syndrome ..................................... 79
Summary...................................... 80
Chapter 7 Parent Concerns .............................. 83
Ronald L. Taylor and Mary Lou Caldwell
Concerns at the Time of the Birth of the Child ....... 84
Concerns from the Time of the Birth of the Child
to the Onset of Weight Gain ...................... 86
The Time from Weight Gain to the Beginning of
Adolescence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
Adolescence and Postadolescence .................. 89
Conclusions: Suggestions for Physicians and
Parents ....................................... 90
Appendix 93
Parent Questionnaire ............................... 95
Author Index 103
Subject Index 109
Contributors
Mary Lou Caldwell, PhD, Associate Professor, Exceptional Student Educa
tion, Florida Atlantic University, Boca Raton, Florida 33431-0991, USA
Suzanne B. Cassidy, MD, Associate Professor of Pediatrics, Director, Divi
sion of Human Genetics, University of Connecticut School of Medicine,
Farmington, Connecticut 06032, USA
David H Ledbetter, PhD, Associate Professor, Institute for Molecular
Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
James K. Luiselli, EdD, Clinical Psychologist, Behavioral and Educational
Resource Associates, Concord, Massachusetts 01742, USA
Ronald L. Taylor, EdD, Professor, Exceptional Student Education, Florida
Atlantic University, Boca Raton, Florida 33431-0991, USA
Charles W Wagner/ MD, Associate Professor, Surgery and Pediatrics,
Arkansas Children's Hospital, University of Arkansas for Medical Sci
ences, Little Rock, Arkansas 72201, USA
1
Issues in Prader-Willi Syndrome:
Diagnosis, Characteristics,
and Management
JAMES K. LUISELLI, RONALD L. TAYLOR,
and MARY Lou CALDWELL
Prader-Willi syndrome was described initially by Prader, Labhart, and
Willi in a brief paper published in 1956. The characteristics comprising
the syndrome included obesity, mental retardation, short stature, hypo
tonia in infancy, and cryptorchidism. The predominant behavioral fea
tures of the syndrome were hyperphagia and a compulsive preoccupation
with food. In 1963, Prader and Willi supplemented their earlier work with
a report on 14 additional cases. Added to the diagnostic picture were
diminished fetal activity and a tendency to develop diabetes.
Beginning in the late 1960s, a series of publications appeared that con
firmed other apparent cases of Prader-Willi syndrome while providing
more detailed and extensive reviews of diagnostic criteria. Over the years,
a relatively uniform clinical picture of Prader-Willi syndrome has
emerged. The syndrome is characterized by a rather distinct combination
of morphological and behavioral features and, in fact, diagnosis of the
syndrome has been largely based on clinical phenotype. Only recently has
progress been made in providing more laboratory-oriented data to estab
lish a diagnosis (see Chapter 2).
The management of treatment of individuals with Prader-Willi syn
drome has been of primary concern to parents and professionals alike.
These treatment approaches have incorporated medical, educational, and
behavioral techniques to provide a multidisciplinary management pro
gram. The techniques include surgery, pharmacological intervention,
dietary management, and behavior modification. Much has been learned
about the relative effectiveness of these and other therapeutic approaches
for managing or modifying a variety of behaviors of this population.
This chapter provides a general introduction to the diagnosis, charac
teristics, and treatment ofPrader-Willi syndrome. An overview of the syn
drome will be presented through a description of its characteristics,
followed by a discussion of the emergence and current status oftherapeu
tic management approaches. Throughout the chapter, important research
and management issues will be highlighted.