CHARGE Syndrome

Timothy S. Hartshorne, Margaret A. Hefner, and Kim Blake

Details: 528 pages, B&W, Softcover, 7" x 10"

ISBN13: 978-1-63550-290-9

Publication Date: 29/01/2021

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.

New to the Second Edition

• 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 completely 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)