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CHARGE Syndrome Timothy S. Hartshorne

CHARGE Syndrome By Timothy S. Hartshorne

CHARGE Syndrome by Timothy S. Hartshorne


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Summary

This book describes the sensory, physical, communicative, and behavioral findings in CHARGE Syndrome.

CHARGE Syndrome Summary

CHARGE Syndrome by Timothy S. Hartshorne

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

About Timothy S. Hartshorne

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.

Table of 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

Additional information

NPB9781635502909
9781635502909
163550290X
CHARGE Syndrome by Timothy S. Hartshorne
New
Paperback
Plural Publishing Inc
2021-01-29
450
N/A
Book picture is for illustrative purposes only, actual binding, cover or edition may vary.
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