CHARGE Syndrome
Plural Publishing Inc (Verlag)
978-1-63550-290-9 (ISBN)
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
Timothy S. Hartshorne, PhD, is professor of psychology at Central Michigan University, specialized in school psychology. Dr. Hartshorne has been interested in CHARGE syndrome since the birth of his son with CHARGE in 1989. When it became clear in the mid 1990's that many children with CHARGE develop severe behavioral issues, he decided to re-focus his research on this problem. In addition to his publications on CHARGE, Dr. Hartshorne has been a frequent presenter at conferences in many countries and has presented at every US conference since the first one in 1993. In 2005 he was awarded the Star in CHARGE by the CHARGE Syndrome Foundation. He is also the grant holder for Deafblind Central: Michigan's Training and Resource Project. Dr. Hartshorne serves as an advisor to the CHARGE Syndrome Foundation and chairs their clinical research advisory board.++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++Margaret A. Hefner, MS, is a Genetic Counselor in the Department of Pediatrics, Division of Medical Genetics, at Saint Louis University School of Medicine. She 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 materials for families and professionals, including for the Management Manual for Parents, the 2005 and 2017 American Journal of Medical Genetics special issues on CHARGE syndrome, and the GeneReview and Face2Gene summaries of CHARGE syndrome. One of the founders of the CHARGE Syndrome Foundation, Ms. Hefner served on the Board for 12 years. In 1999, Ms. Hefner was awarded the first Star in CHARGE, the highest award of the Foundation. In 2014, she was given the Diane Baker award from the University of Michigan for her lifelong work as a genetic counselor and her work with CHARGE. Ms. Hefner still serves as a Special Advisor to the CHARGE Syndrome Foundation is on the advisory board of the Missouri Deafblind Project and answers inquiries from families and professionals via email and social media.++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++Kim Blake, MD, is a professor of Pediatrics at Dalhousie University in Nova Scotia, Canada. She has been researching in CHARGE syndrome over 35 years and has published extensively. She has answered research questions concerning post-operative airway events, sleep apnea, bone health, cranial nerve abnormalities and gastrointestinal issues. In the last 10 years, Dr. Blake has partnered with Dr. Jason Berman and they have developed a zebra-fish-model of CHARGE syndrome to answer further research questions regarding issues such as the Vagus Nerve in CHARGE, and adverse events following anesthesia. Dr. Blake is very proud of the CHARGE syndrome checklist which has been developed both for families, individuals, and professionals to use as a clinical guide and a teaching tool for managing CHARGE syndrome. Dr. Blake has presented internationally at conferences worldwide and has involved numerous students in her passion for the families and wonderful individuals with CHARGE syndrome. She has been awarded the Star in CHARGE by the CHARGE Syndrome Foundation.
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
| Erscheinungsdatum | 10.05.2021 |
|---|---|
| Zusatzinfo | 103 figures and 33 tables |
| Verlagsort | San Diego |
| Sprache | englisch |
| Maße | 178 x 254 mm |
| Themenwelt | Medizin / Pharmazie ► Gesundheitsfachberufe ► Logopädie |
| ISBN-10 | 1-63550-290-X / 163550290X |
| ISBN-13 | 978-1-63550-290-9 / 9781635502909 |
| Zustand | Neuware |
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