Management of Prader-Willi Syndrome

539 Pages·2022·23.198 MB·English

by  Merlin G. Butler, Phillip D. K. Lee, Barbara Y. Whitman

Management
of Prader-Willi
Syndrome
Merlin G. Butler
Phillip D. K. Lee
Barbara Y. Whitman
Editors
Fourth Edition
123
Management of Prader-Willi Syndrome
Beginning in the sixteenth century, members of the royal House of Habsburg developed an interest in collecting
exotic items and paintings of unusual people, as exemplified by the Ambras Kunst- und Wunderkammer
created by Archduke Ferdinand II of Austria (1529–1595). Some Habsburg rulers also collected living human
“curiosities” for the entertainment of their court. In 1680, Eugenia Martínez Vallejo, the 6-year-old daughter
of José Martínez Vallejo and Antonia de la Bodega (villa de Bárcena, provincia de Burgos, Spain) was added
to the court of Charles II, the last Habsburg king of Spain. Her image was recorded for posterity by the “painter
to the Queen,” Juan Carreño de Miranda (1614–1685), in two paintings entitled “La Monstrua.”
It is said that upon viewing these paintings in the Museo del Prado, Dr. Andrea Prader immediately recognized
the features of the syndrome that he had described with Drs. Labhart and Willi in 1956 (see Appendix A).
Although we may never know if Eugenia Martínez Vallejo had Prader Willi syndrome, these paintings have
since been regarded as among the earliest depictions of the condition.
In 1997, a bronze sculpture of La Monstrua by Spanish artist Amado González Hevia (“Favila”) was placed
on the Calle Carreño Miranda in Avilés, Asturias, Spain, the birthplace of Juan Carreño de Miranda.
Merlin G. Butler
Phillip D. K. Lee • Barbara Y. Whitman
Editors
Management
of Prader-Willi Syndrome
Fourth Edition
Editors
Merlin G. Butler Phillip D. K. Lee
Departments of Psychiatry & Behavioral Department of Pediatrics
Sciences and Pediatrics University of Texas Medical Branch
University of Kansas Medical Center Galveston, TX, USA
Kansas City, KS, USA
Barbara Y. Whitman
Department of Pediatrics
Saint Louis University
St. Louis, MO, USA
ISBN 978-3-030-98170-9 ISBN 978-3-030-98171-6 (eBook)
https://doi.org/10.1007/978-3-030-98171-6
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Contents
Part I Diagnosis, Clinical Aspects and Genetics of Prader-Willi
Syndrome
1 Clinical and Genetic Findings with Natural History
of Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Merlin G. Butler and Travis Thompson
2 Molecular Genetic Findings in Prader-Willi Syndrome . . . . . . . 51
Stefan Stamm and Merlin G. Butler
3 Laboratory Testing for Prader-Willi Syndrome. . . . . . . . . . . . . . 75
Nicole L. Hoppman, Elena Repnikova, and Ross A. Rowsey
4 Monogenic and Syndromic Causes of Obesity . . . . . . . . . . . . . . . 93
Jessica Duis and Merlin G. Butler
Part II M edical Physiology and Treatment
5 Medical Considerations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 123
Urs Eiholzer and Phillip D. K. Lee
6 Gastrointestinal System, Obesity, and Body
Composition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 159
Ann O. Scheimann, Roman Shypailo, and Phillip D. K. Lee
7 Growth Hormone and Prader-Willi Syndrome . . . . . . . . . . . . . . 195
Aaron L. Carrel, Phillip D. K. Lee, and Harriette R. Mogul
Part III M ultidisciplinary Management of Prader- Willi Syndrome
8 Neurodevelopmental and Neuropsychological
Aspects of Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . 219
Barbara Y. Whitman and Jennifer L. Heithaus
9 Speech and Language Disorders Associated
with Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 247
Roxann Diez Gross
v
vi Contents
10 Motor and Developmental Interventions
for Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 259
Toni Goelz
11 Educational Considerations for Children
with Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 275
Stacy Ward and Evan Farrar
12 Tools for Psychological and Behavioral
Management with Prader-Willi Syndrome. . . . . . . . . . . . . . . . . . 285
Barbara Y. Whitman and Lisa A. Graziano
13 Educational and Social Issues for Adolescents
with Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 313
Barbara J. Goff
14 Transition from Adolescence to Young Adulthood:
The Special Case of Prader-Willi Syndrome . . . . . . . . . . . . . . . . 327
Kelli A. Sanderson, Robert M. Hodapp, Elisabeth Dykens,
and Elizabeth Roof
15 Vocational Challenges for People
With Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 343
Steve Drago
16 Residential Care for Adults With Prader-Willi Syndrome . . . . . 351
Mary Kay Zicardi
17 Inpatient Crisis Intervention for Persons
with Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 363
Linda M. Gourash, James Hanchett, Janice L. Forster,
James Loker, and Mary Cataletto
18 Social Work Interventions: Advocacy and Support
for Families with Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . 383
Barbara Y. Whitman and Lisa A. Graziano
19 A National Approach to Family Support and Advocacy . . . . . . . 395
Kate Beaver and Stacy Ward
20 Advocacy Issues for School Discipline
and Expulsion with Prader-Willi Syndrome . . . . . . . . . . . . . . . . 401
Barbara J. Goff and Barbara Y. Whitman
21 Advocacy Issues: Sexuality and Prader-Willi Syndrome . . . . . . 413
Barbara J. Goff
22 Pharmacotherapy in Prader-Willi Syndrome . . . . . . . . . . . . . . . 427
Janice L. Forster
23 The Psychiatric Phenotype in Prader-Willi Syndrome . . . . . . . . 467
Janice L. Forster
Contents vii
24 Appendix A: First Published Report
of Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 487
Urs Eiholzer and Phillip D. K. Lee
25 Appendix B: Comprehensive Team Management
of Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 491
Urs Eiholzer and Phillip D. K. Lee
26 Appendix C: Growth Charts of Individuals
with Prader-Willi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 499
Merlin G. Butler
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 529
Contributors
Kate Beaver Prader-Willi Syndrome, Sarasota, FL, USA
Prader-Willi Syndrome Association | USA, Sarasota, FL, USA
Merlin G. Butler Departments of Psychiatry & Behavioral Sciences and
Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA
Aaron L. Carrel Department of Pediatrics, The University of Wisconsin
School of Medicine and Public Health, Madison, WI, USA
Mary Cataletto Department of Pediatrics, NYU Long Island School of
Medicine, New York, NY, USA
Steve Drago Prader-Willi Vocational Consultant, Palm Coast, FL, USA
Jessica Duis Section of Genetics and Inherited Metabolic Disorders, Special
Care Clinic, Department of Pediatrics, Children’s Hospital Colorado,
University of Colorado Anschutz Medical Campus, Aurora, CO, USA
Elisabeth Dykens Vanderbilt Brain Institute, Nashville, TN, USA
Urs Eiholzer Center for Pediatric Endocrinology, PEZZ, Zurich, Switzerland
Evan Farrar Prader-Willi Syndrome Association | USA, Sarasota, FL, USA
Janice L. Forster The Pittsburgh Partnership, Pittsburgh, PA, USA
Toni Goelz Physical Therapist St. Louis Children’s Hospital Washington
University, St. Louis, MO, USA
Barbara J. Goff Prader-Willi Education Specialist, Emeritus at Westfield
State College, Westfield, MA, USA
Linda M. Gourash The Pittsburgh Partnership, Pittsburgh, PA, USA
Lisa A. Graziano Private Practice, Redondo Beach, CA, USA
Prader-Willi California Foundation, San Diego, CA, USA
Roxann Diez Gross Swallowing Diagnostics, Inc., Parkland, FL, USA
Clinical Advisory Board for PWS | USA, Sarasota, FL, USA
James  Hanchett The Children’s Institute Prader-Willi Syndrome and
Behavior Disorders Program, Pittsburgh, PA, USA
ix
x Contributors
Jennifer L. Heithaus SSM Health Cardinal Glennon Children’s Hospital-St.
Louis University, St. Louis, MO, USA
Robert M. Hodapp Family Research Program, Vanderbilt Kennedy Center,
Nashville, TN, USA
Special Education, Peabody College, Nashville, TN, USA
Nicole L. Hoppman Department of Laboratory Medicine and Pathology,
Mayo Clinic, Rochester, MN, USA
Phillip D. K. Lee Department of Pediatrics, University of Texas Medical
Branch, Galveston, TX, USA
James Loker Pediatric Cardiologist, father of a daughter with PWS, on the
PWSA USA Clinical Advisory Committee and at the Advisory Committee of
the International Prader-WillI Organization (IPWSO), Sarasota, FL, USA
Harriette R. Mogul Department of Medicine, New York Medical College,
Valhalla, NY, USA
Elena Repnikova Children’s Mercy Kansas City/University of Missouri-
Kansas City School of Medicine, Kansas City, MO, USA
Elizabeth Roof Vanderbilt Brain Institute, Nashville, TN, USA
Ross A. Rowsey Department of Laboratory Medicine and Pathology, Mayo
Clinic, Rochester, MN, USA
Kelli A. Sanderson California State University, Long Beach, CA, USA
Ann O. Scheimann Department of Pediatrics, Johns Hopkins School of
Medicine, Pediatrics, Baltimore, MD, USA
Roman Shypailo Department of Pediatrics, Baylor College of Medicine,
Houston, TX, USA
Stefen  Stamm University of Kentucky, Department of Molecular and
Cellular Biochemistry, Lexington, KY, USA
Travis Thompson Department of Educational Psychology (retired) College
of Education, University of Minnesota, Minneapolis, MN, USA
Stacy Ward William and Mary College of Law Pele Clinic Special Education
Advocacy Training, Williamsburg, VA, USA
Prader-Willi Syndrome Association | USA, Sarasota, FL, USA
Barbara Y. Whitman Department of Pediatrics, Saint Louis University, St.
Louis, MO, USA
Scientific Advisory Board and the Clinical Advisory Board PWSA | USA,
Sarasota, FL, USA
Mary Kay Zicardi The MENTOR Network, REM Ohio, Inc., Cleveland,
OH, USA