Description
Book SynopsisCHARGE 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 Star in CHARGE. They represent three different disciplines: clinical pediatrics, genetic counseling, and psychology. 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 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 videos and downloadable versions of the checklists described in the book
Table of ContentsForeword 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 Veronique Abadie Chapter 5. Overview of Balance and the Vestibular System Claes Moeller 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 Blake Chapter 11. Neurodevelopment Kim Blake and Elizabeth E. Gilles Chapter 12. Cardiovascular System Karthik Thangappan, Alexander Hatton, and David Luis Simone Morales Chapter 13. Renal and Urinary Systems Michael Daugherty and Pramod P. Reddy Chapter 14. Endocrine System Jeremy Kirk and Meilan Marianne 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
