Non-Fiction Books:

Charge Syndrome


Paperback / softback

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Charge Syndrome
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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.

Author Biography

Dr. Hartshorne has been interested in CHARGE Syndrome since 1989 when his son was born with the syndrome. When it became increasingly clear in the mid-1990s that many children with CHARGE develop severe behavioral problems, he began to devote most of his research to this problem. In addition to his publications on CHARGE, he has presented at every U.S. CHARGE conference, every Australasian conference, the European conference, Scandinavian conference, and conferences in several other countries. In 2005 he was awarded the Star in CHARGE by the CHARGE Syndrome Foundation. Margaret Hefner is a Genetic Counselor and Associate Professor in the Division of Medical Genetics, Department of Pediatrics at Saint Louis University School of Medicine. Ms. Hefner 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 numerous materials for families and professionals, including the CHARGE Syndrome Management Manual for Parents, the New Parent Packet, and Professional Packet. One of the founders of the CHARGE Syndrome Foundation, Ms. Hefner served on the Board of Directors for 12 years and is now a Special Advisor to the Board, as well as chair of the Research Committee. Sandra L.H. Davenport, M.D., C.M. got her undergraduate degree from Barnard College in New York City, her basic medical science degree from Dartmouth Medical School in Hanover, New Hampshire, and her M.D. from McGill University Faculty of Medicine in Montreal. Dr. Davenport completed her pediatric residency at the University of Washington in Seattle, along with two fellowships in the Comprehensive Care of Handicapped Children and in Abnormal Biologic Development. The focus of the Abnormal Biologic Development fellowship was deafness and was divided between genetics and the study of deafness from both a medical and cultural perspective, including taking a didactic course for ENT residents, spending time in the ENT clinic, beginning sign language, and learning about deaf culture. It was at this time that Dr. Davenport developed a life-long interest in deafblindness. James Thelin, Ph.D. began his career practicing audiology, teaching medical students and resident physicians, and conducting research in the medical schools at the Universities of Cincinnati and Missouri. He now teaches graduate students in audiology and conducts research at the University of Tennessee. His research has focused on hearing, balance, and communication in CHARGE syndrome. He is a founding member and currently serves on the Board of the CHARGE Syndrome Foundation.
Release date Australia
June 1st, 2010
Edited by Margaret Hefner Edited by Sandra Davenport Edited by Timothy S. Hartshorne
Country of Publication
United States
2 colour illustrations
Plural Publishing Inc
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