Full Description
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 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
Contents
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
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
