CHARGE Syndrome

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