CHARGE Syndrome

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Edited by: Timothy S. Hartshorne, Margaret A. Hefner,

Sandra L.H. Davenport, James W. Thelin

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

Each of the editors is established as an expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Star in CHARGE, and represent four different disciplines: sensory genetics and neurodevelopment, genetic counseling, audiology, and psychology. They have concluded that studies have advanced to the degree that a single source of information is necessary. This, the first known book on the subject, describes the sensory, physical, and behavioral findings in CHARGE, indicates what kinds of studies need to be done to confirm the findings, and describes how these findings affect the function and development of the individual with CHARGE.


  • Wafaa Kaf, Communication Sciences and Disorders Department, Missouri State University, Springfield, Missouri, USA, International Journal of Audiology 2012 (2012):
    "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."

Details: 408 pages, Colour Illustrations (2 Colour), Softcover, 7 x 10"
ISBN13: 978-1-59756-349-9
Release Date: 01/08/2010