CHARGE Syndrome

Foreword by Daniel I. Choo
Introduction and Genetics by Margaret A. Hefner
Acknowledgements
Contributors

Part I. Sensory Issues in CHARGE 

Chapter 1. Overview and Sensory Issues 
Margaret A. Hefner and Sandra L.H. Davenport 

Chapter 2. The Eye and Vision
Eniolami O. Dosunmu

Chapter 3.  Hearing
Sarah E. Curtis and Michael P. Scott

Chapter 4.  Smell: The Olfactory System
Véronique Abadie

Chapter 5.  Overview of Balance and the Vestibular System
Claes Möller

Chapter 6.  Understanding the Tactile System
Jude Nicholas

Chapter 7.  Consequences of Vestibular and Proprioceptive Dysfunction
David M. Brown

Part II. Medical Issues in CHARGE

Chapter 8.  Otologic Issues
Daniel I. Choo

Chapter 9. Airway Obstruction
Catherine K. Hart and Christine H. Heubi

Chapter 10. Gastrointestinal Dysfunction
Alexandra S. Hudson and Kim D. Blake

Chapter 11. Neurodevelopment
Kim D. Blake and Elizabeth E. Gilles

Chapter 12. Cardiovascular System
Karthik Thangappan, Alexander Hatton, and David Luís Simóne Morales

Chapter 13. Renal and Urinary Systems
Michael Daugherty and Pramod P. Reddy

Chapter 14. Endocrine System
Jeremy M. W. Kirk and Meilan M. Rutter

Chapter 15. Immune System
Peter Hsu, Sam Mehr, and Dianne E. Campbell

Chapter 16. Musculoskeletal System
Marc S. Williams

Chapter 17. Adult Medical Issues
Susan Wiley

Part III. Developmental Issues in CHARGE

Chapter 18. Cognitive Development
Nancy Salem-Hartshorne

Chapter 19. Social/Emotional Aspects
Megan C. Schmittel

Chapter 20. Promoting Motor Development
Pamela Haibach-Beach, Melanie E. Perreault, and Lauren J. Lieberman

Chapter 21. Toileting
Laurie S. Denno

Chapter 22. Sleep
Benjamin Kennert and Dominique Pancotto

Chapter 23. Changes over the Life Cycle
Nancy Salem-Hartshorne, Megan C. Schmittel, Kasee K. Stratton, and Sandra L.H. Davenport

Part IV. Language Development and Communication Systems in CHARGE 

Chapter 24. Communication: The Speech and Language Perspective
Lori A. Swanson

Chapter 25. Prelinguistic Assessment 
Susan M. Bashinski

Chapter 26. Forms and Functions in Communication
Emily King Miller, Lori A. Swanson, Nancy K. Steele, Sara J. Thelin, and James W. Thelin

Part V. Psychological Issues in CHARGE 

Chapter 27. Behavior
Timothy S. Hartshorne

Chapter 28. Psychiatric Issues
Susan Wiley

Chapter 29. Pain
Kasee K. Stratton

Chapter 30. Stress 
Kasee K. Stratton

Chapter 31. Parenting
Timothy S. Hartshorne

Chapter 32. Educational Issues
Lillian J. Slavin

Appendix. Checklists
Index

CHARGE syndrome occurs in approximately 1:10,000–15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech.

Each of the editors is an established expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Stars in CHARGE.  They represent three different disciplines: psychology, genetic counseling, and clinical pediatrics. Additional information and studies on CHARGE have advanced to the degree that warrant a second edition of this book. As in the first edition, this book describes the sensory, physical, communicative, and behavioral findings in CHARGE. Authors include experts in the field, including a number from the CHARGE Center at Cincinnati Children’s Hospital Medical Center.

• Co-Editor, Kim D. Blake, MD
• A chapter on Educational Issues has been added
• Reorganized for a greater flow of information
• All chapters have been revised and updated
• References have been completly updated
• More images and illustrations
• A PluralPlus companion website with links to related videos and downloadable versions of the checklists described in the book

Praise for the First Edition

"Edited and authored by experts from a wide score of pediatricians and professionals, this is an excellent work that gives insight about everything professionals need to know about CHARGE syndrome in one book. Therefore, it is a must-have clinical reference book for specialists who are involved in the care of individuals with CHARGE. It allows a quick grasp of the essential points for multidisciplinary collaboration to provide appropriate evaluations, referrals, guidance, and treatment for individuals with CHARGE. I would also recommend this book to family members of individuals with CHARGE syndrome for educational and counseling purposes, to help parents understand the long-term health consequences of the syndrome and the steps they can take to help their child. The editors have done a great job crossing the barriers among these professionals in order for the book to serve as a professional and parental educational resource. In conclusion, thanks to the editors and the authors for an invaluable text to professionals, parents, and educators." — Wafaa Kaf, MD, PhD, Communication Sciences and Disorders Department, Missouri State University, in the International Journal of Audiology (2012)

Timothy S. Hartshorne, PhD, is a Professor of Psychology at Central Michigan University, specialized in school psychology. Dr. Hartshorne has been interested in CHARGE syndrome since the birth of his son with CHARGE in 1989. When it became clear in the mid 1990’s that many children with CHARGE develop severe behavioral issues, he decided to refocus his research on this problem. In addition to his publications on CHARGE, Dr. Hartshorne has been a frequent presenter at conferences in many countries and has presented at every U.S. conference since the first one in 1993. In 2005 he was awarded the Stars in CHARGE by the CHARGE Syndrome Foundation. He is also the grant holder for Deafblind Central: Michigan’s Training and Resource Project. Dr. Hartshorne serves as an advisor to the CHARGE Syndrome Foundation and chairs their clinical research advisory board.

Margaret A. Hefner, MS, is a Genetic Counselor in the Department of Pediatrics, Division of Medical Genetics, at Saint Louis University School of Medicine. She first became interested in CHARGE syndrome in 1982 when working with Dr. Sandra Davenport at the University of Missouri, Columbia. In addition to writing journal articles on CHARGE syndrome, Ms. Hefner has written and edited materials for families and professionals, including for the Management Manual for Parents, the 2005 and 2017 American Journal of Medical Genetics special issues on CHARGE syndrome, and the GeneReview and Face2Gene summaries of CHARGE syndrome. One of the founders of the CHARGE Syndrome Foundation, Ms. Hefner served on the Board for 12 years. In 1999, Ms. Hefner was awarded the first Stars in CHARGE, the highest award of the Foundation. In 2014, she was given the Diane Baker Award from the University of Michigan for her lifelong work as a genetic counselor and her work with CHARGE. Ms. Hefner still serves as an advisor to the CHARGE Syndrome Foundation, is on the advisory board of the Missouri Deafblind Project, and answers inquiries from families and professionals via email and social media.

Kim D. Blake, MD, is a Professor of Pediatrics at Dalhousie University in Nova Scotia, Canada. She has been researching CHARGE syndrome for over 35 years and has published extensively. She has answered research questions concerning post-operative airway events, sleep apnea, bone health, cranial nerve abnormalities, and gastrointestinal issues. In the past 10 years, Dr. Blake has partnered with Dr. Jason Berman and they have developed a zebra-fish-model of CHARGE syndrome to answer further research questions regarding issues such as the vagus nerve in CHARGE, and adverse events following anesthesia. Dr. Blake is very proud of the CHARGE syndrome checklist which has been developed both for families, individuals, and professionals to use as a clinical guide and a teaching tool for managing CHARGE syndrome. Dr. Blake has presented internationally at conferences worldwide and has involved numerous students in her passion for the families and wonderful individuals with CHARGE syndrome. She has been awarded the Stars in CHARGE by the CHARGE Syndrome Foundation.