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.
Author(s): Merlin G. Butler, Phillip D. K. Lee, Barbara Y. Whitman
Edition: 4
Publisher: Springer
Year: 2022
Language: English
Pages: 538
City: Cham
Contents
Contributors
Part I: Diagnosis, Clinical Aspects and Genetics of Prader-Willi Syndrome
1: Clinical and Genetic Findings with Natural History of Prader-Willi Syndrome
Historical and Genetic Overview
Clinical Presentation and Diagnosis
Clinical Stages, Nutritional Phases, and Natural History
Clinical Stages in PWS
Nutritional Phases in PWS
Natural History in PWS
Pregnancy and Delivery
Infancy
Early Childhood
Adolescence and Adulthood
Obesity and Related Problems
Appetite Regulation and Control
Metabolism and Energy Expenditure
Onset and Measurement of Obesity
Weight Management
Other Medical Findings
Bone Density
Oral and Dental Issues
Growth and Growth Hormone
Routine Blood Studies
Brain and Imaging Studies
Cognitive and Behavioral Findings
Behavioral Issues
Self-Injurious Behavior
Compulsive Behavior
Genetic Subtype-Phenotype Relationships
Clinical, Behavior, and Cognition
Visual Perception and Visual Memory
Phenotypes Associated with Longer Versus Shorter Typical 15q11–q13 Deletions
Conclusions
References
2: Molecular Genetic Findings in Prader-Willi Syndrome
Genetic Imprinting
Genes in the Maternally Imprinted Region, Not Expressed in PWS
Protein Ubiquitination
MKRN3
MAGEL2
Necdin/NDN
PWRN1 and PWRN2
NPAP1/C15orf2
The SNURF-SNRPN Transcriptional Unit
SNURF-SNRPN and Imprinting Center
SNHG14: 3’ UTR of the SNURF-SNRNP Transcript
Role of C/D Box snoRNAs in PWS
General Features of C/D Box snoRNAs (SNORD)
Biogenesis of Human SNORDs
Well-Understood “Classical” and Novel Functions of SNORDs
SNORDS of the PWS Region
SNORD116
SNORD115
IPW
Genes in Paternally Imprinted Region, Expressed in PWS, Not Expressed in Angelman Syndrome
UBE3A
ATP10A
Nonimprinted Genes Between BP1 and BP2
NIPA1
NIPA2
CYFIP1
TUBGCP5
Nonimprinted Genes Between ATP10A and BP3
GABRB3, GABRA5, GABRG3
OCA2
HERC2
Nonimprinted Genes Between BP3 and BP5
CHRNA7
Contribution of Genes to PWS
Databases
References
3: Laboratory Testing for Prader-Willi Syndrome
Introduction
Clinical Laboratory Testing for Prader-Willi Syndrome
Commonly Utilized Molecular Diagnostic Tests
Methylation-Specific MLPA
Methylation-Specific Polymerase Chain Reaction (MS-PCR)
Microsatellite Analysis
Microarray
Karyotype and FISH
Alternative Techniques
Southern Blot
Pyrosequencing
Digital Droplet PCR
Whole-Exome/Whole-Genome Sequencing
Testing Algorithm
Reporting Guidelines Following MS-MLPA
Cost Considerations
Prenatal Testing for PWS
References
4: Monogenic and Syndromic Causes of Obesity
Introduction of Genetics of Obesity
Genetic Factors Contributing to Obesity
Monogenic Obesity
Chromosome Anomalies and Obesity
Syndromic Obesity Associated with Chromosomal Anomalies
Syndromic Obesity
Conclusions
References
Part II: Medical Physiology and Treatment
5: Medical Considerations
Natural History and Age-Related Morbidity Without GH Treatment
Mortality
Medical Concerns
Disorders of Sexual Development and Maturation
Genital Hypoplasia and Cryptorchidism
Pathophysiology
Evaluation
Treatment
Hypogonadism
Pathophysiology
Evaluation
Treatment
Musculoskeletal Disorders
Hypotonia
Scoliosis
Osteoporosis
Hip Dysplasia
Respiratory and Vascular Systems
Respiratory Disorders
Physiology
Pathophysiology
Evaluation
Treatment
Cardiovascular and Cerebrovascular Systems
Cor Pulmonale
Other Vascular Conditions
Miscellaneous Medical Concerns
Thermoregulatory Disorders, Autonomic Dysfunction, and Anesthesia Risk
Ophthalmologic Disorders
Sensory Function and Dermatillomania
Mitochondrial DNA
Epilepsy
Cancer
Infections
References
6: Gastrointestinal System, Obesity, and Body Composition
Gastrointestinal System and Disorders
Oropharyngeal Physiology
Non-PWS
Pathology in PWS
Treatment
Stomach, Pancreas, and Intestines
Physiology
Pathology and Treatment in PWS
Other Gastrointestinal Organs
Obesity
Definition and Diagnosis of Obesity
Pathogenesis
Energy Expenditure
Associated Morbidities
Treatment
Pharmacotherapy
Bariatric Surgery
Special Nutritional Considerations
Obesity-Related Morbidities
Premature Adrenarche
Type 2 Diabetes Mellitus
Other Obesity-Related Conditions
Measurement of Body Composition
Anthropometry
Body Composition Modeling
Methods Based on the Two-Compartment (2-C) Model
Methods Based on the 3-Compartment (3-C) Model
Method Selection for Individuals with PWS
References
7: Growth Hormone and Prader-Willi Syndrome
GH/IGF Axis Pathophysiology
GH Therapy
Effects of GH Treatment in Prader-Willi Syndrome (Figs. 7.1 and 7.2)
Height and Other Skeletal Growth
Body Composition and Metabolism
Muscle and Respiratory Function
Behavioral Effects and Quality of Life
Infants
Older Children and Adults
Pretherapy Testing
Childhood GH Therapy
Adult GH Therapy
Safety and Contraindications
Comprehensive Care
References
Part III: Multidisciplinary Management of Prader-Willi Syndrome
8: Neurodevelopmental and Neuropsychological Aspects of Prader-Willi Syndrome
Introduction
General Factors Influencing Neurodevelopment and Behavior
Neurocognitive Profile
Social Interaction, Communication, and Repetitive Behaviors
Mental Health Symptoms and Diagnoses, and Other Challenging Behaviors
Summary and a Challenge for Improvement
References
9: Speech and Language Disorders Associated with Prader-Willi Syndrome
Introduction
Swallowing
Speech and Language Characteristics
Developmental Course of Speech and Language Skills in PWS
Therapeutic Implications
Future Directions
References
Glossary
10: Motor and Developmental Interventions for Prader-Willi Syndrome
Introduction
Inactivity and Obesity
The Adult with Prader-Willi Syndrome
Conclusion
References
11: Educational Considerations for Children with Prader-Willi Syndrome
US Education Legislation
Qualifying for Special Education Services
Program Models
Medical Issues That Affect the Educational Process
Educational Concerns Across Developmental Stages
Conclusion
References
12: Tools for Psychological and Behavioral Management with Prader-Willi Syndrome
Chapter Overview
Overview of Behavior Phenotype
Hyperphagia and the Accompanying Food-Related Constellation
Critical Management Issues
Managing the Food-Related Behavioral Constellation
Strategies for Effective Behavior Management
General Tools and Strategies for Promoting Positive Behaviors and Managing Challenging Behavior
Other Helpful Behavior Strategies
References
13: Educational and Social Issues for Adolescents with Prader-Willi Syndrome
It is All About Change
Transition to Middle or High School: Paving the Way
PWS-Driven Behavior Challenges
Fitting in: The Adolescent Struggle
Looking Ahead
References
14: Transition from Adolescence to Young Adulthood: The Special Case of Prader-Willi Syndrome
Introduction
The Context of Transition
Transition Domains
Transition Issues Specific to Prader-Willi Syndrome
PWS Residential Issues
PWS Physiological Issues Affecting Transition
Recommendations
Conclusion
References
15: Vocational Challenges for People With Prader-Willi Syndrome
The Last Hurdle
The Work Placement Options
Individuals with Prader-Willi Syndrome in the Workplace
Structuring for Vocational Success
A Look Back: A Look Toward the Future – The Good, the Bad, the Demands, and the Possibilities
References
16: Residential Care for Adults With Prader-Willi Syndrome
Introduction
Required Components of Care in a Residential Placement Setting
Putting It All Together
Summary
References
17: Inpatient Crisis Intervention for Persons with Prader-Willi Syndrome
Development of the Obesity Crisis and Obesity Related Complications in Prader-Willi Syndrome
Obesity Hypoventilation Syndrome (OHS)
Signs of Medical Deterioration Due to Obesity
Management of Obesity Hypoventilation Syndrome
Positioning
Activity, Diet, and Spontaneous Diuresis
Spontaneous Diuresis
Use and Misuse of Oxygen Therapy
External Positive Airway Ventilation
Use and Misuse of Diuretics
Surgery
PWS Medical Issues and Precautions
Leg Edema and Cellulitis
Pulmonary Embolism (PE)
Diabetes
Hypertension
Intertrigo
Renal Dysfunction
Abnormal Pain Awareness and Unpredictable Fever Response
Unreliable Self-Report
Medication Seeking
Abnormal Temperature Regulation
Hypersomnia: Daytime Sleepiness
Skin Picking
Rectal Self-Injury
Dangers and Challenges of Hospitalization of a Person with PWS
Conclusion
References
18: Social Work Interventions: Advocacy and Support for Families with Prader-Willi Syndrome
In Time of Need: Resource and Advocate
Long-Term Family Concerns
Additional Major Concerns
Conclusion
References
19: A National Approach to Family Support and Advocacy
Advocacy for Services
Medical Concerns
Education Support
Legal Concerns in the Public Arena
Supported Living
Conclusion
20: Advocacy Issues for School Discipline and Expulsion with Prader-Willi Syndrome
Introduction
Causes and Process for Disciplinary Actions and Alternate Placement
Discipline Definitions Under Idea
Manifestation Determination Review
Assessment and Behavior Plans
Parents’ Right to Due Process
Alternate Placements
Prevention
Making the Best Decision for the Child
Recommendations and Conclusion
Reference
21: Advocacy Issues: Sexuality and Prader-Willi Syndrome
Sexuality Defined
Sexual Development and Identity
Marriage/Cohabitation/Intimate Relationships
Sexual Abuse
Prevention of Sexual Abuse
Sexual Health Education in School
Sexual Health Education for Adults
Allegations of Abuse: Real or Manipulative
Conclusion
References
22: Pharmacotherapy in Prader-Willi Syndrome
Introduction and Historical Perspectives About Pharmacotherapy in PWS
An Overview of Pharmacotherapy in PWS
Vanderbilt Parent Survey
Residential School Survey
PWSA State Chapter Survey
NIH Rare Disease Natural History in Prader-Willi Syndrome Consortium
The PATH (Paving the Way for Advancements in Treatment and Health) for PWS Study
Efficacy of Psychotropic Medication
The Vanderbilt Study
The Bonnot Meta-Analysis
Pharmacogenetics, Pharmacokinetics, and Pharmacodynamics Affecting Medication Response in PWS
Pharmacogenetics
Factors Affecting Pharmacokinetics in PWS
Pharmacodynamic Factors Affecting Medication Response in PWS
Adverse Effects of Psychotropic Medications
Drug-Drug Interactions
Black Box Warnings for Suicide Risk and Cardiac Dysfunction
Mood and Behavioral Activation
Serotonin Syndrome
Adverse Effects of Antipsychotic Medications
Extrapyramidal Side Effects (EPS)
Dyskinesias
Neuroleptic Malignant Syndrome (NMS)
Catatonia, Catalepsy, and Cataplexy
Weight Gain
Hyperprolactinemia
Hypothermia
Dysautonomia and Cardiac Risk
Adverse Effects Associated with the Use of Anti-epileptics and Mood Stabilizers
Carbamazepine/Oxcarbazepine
Valproic Acid
Topiramate
Lithium Carbonate
Gabapentin
Summary, Conclusions, and Recommendations
References
23: The Psychiatric Phenotype in Prader-Willi Syndrome
Introduction
The Behavioral Phenotype
Psychiatric Evaluation, Mental Status Examination, and Case Formulation in PWS
The Developmental Mental Status Examination for PWS
The Neurodevelopmental Case Formulation
Psychiatric Diagnosis in PWS
Discussion
References
24: Appendix A: First Published Report of Prader-Willi Syndrome
English Translation
References
25: Appendix B: Comprehensive Team Management of Prader-Willi Syndrome
Overview
Care Team
Sequential Care
Diagnosis and Genetic Counseling
Psychosocial Assessment
Endocrine Assessment and Initiation of GH Treatment
Evaluation of Cryptorchidism and Micropenis
Feeding Therapy and Dietary Counseling
Other Therapies: Physical, Occupational, and Speech
Scoliosis Screen
Behavioral (or Psychological) and Educational Assessments and Counseling
Screening for Diabetes and Dyslipidemia
Gonadal Function and Treatment
Bone Density Measurement
Transition to Adult Growth Hormone Treatment
Other Adult Health Concerns
Consideration of Adult Living Options
The Late-Diagnosed or Late-Treated Individual with PWS
Final Comments
References
26: Appendix C: Growth Charts of Individuals with Prader-Willi Syndrome
Data from the United States
Data from Germany
Data from Japan
Index
