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. ChooIntroduction and Genetics by Margaret A. HefnerAcknowledgementsContributorsPart I. Sensory Issues in CHARGE Chapter 1. Overview and Sensory Issues Margaret A. Hefner and Sandra L.H. Davenport Chapter 2. The Eye and VisionEniolami O. DosunmuChapter 3. HearingSarah E. Curtis and Michael P. ScottChapter 4. Smell: The Olfactory SystemVeronique AbadieChapter 5. Overview of Balance and the Vestibular SystemClaes MoellerChapter 6. Understanding the Tactile SystemJude NicholasChapter 7. Consequences of Vestibular and Proprioceptive DysfunctionDavid M. BrownPart II. Medical Issues in CHARGEChapter 8. Otologic IssuesDaniel I. ChooChapter 9. Airway ObstructionCatherine K. Hart and Christine H. HeubiChapter 10. Gastrointestinal DysfunctionAlexandra S. Hudson and Kim BlakeChapter 11. NeurodevelopmentKim Blake and Elizabeth E. GillesChapter 12. Cardiovascular SystemKarthik Thangappan, Alexander Hatton, and David Luis Simone MoralesChapter 13. Renal and Urinary SystemsMichael Daugherty and Pramod P. ReddyChapter 14. Endocrine SystemJeremy Kirk and Meilan Marianne RutterChapter 15. Immune SystemPeter Hsu, Sam Mehr, and Dianne E. CampbellChapter 16. Musculoskeletal SystemMarc S. WilliamsChapter 17. Adult Medical IssuesSusan WileyPart III. Developmental Issues in CHARGEChapter 18. Cognitive DevelopmentNancy Salem-HartshorneChapter 19. Social/Emotional AspectsMegan C. SchmittelChapter 20. Promoting Motor DevelopmentPamela Haibach-Beach, Melanie E. Perreault, and Lauren J. LiebermanChapter 21. ToiletingLaurie S. DennoChapter 22. SleepBenjamin Kennert and Dominique PancottoChapter 23. Changes over the Life CycleNancy Salem-Hartshorne, Megan C. Schmittel, Kasee K. Stratton, and Sandra L.H. DavenportPart IV. Language Development and Communication Systems in CHARGE Chapter 24. Communication: The Speech and Language PerspectiveLori A. SwansonChapter 25. Prelinguistic Assessment Susan M. BashinskiChapter 26. Forms and Functions in CommunicationEmily King Miller, Lori A. Swanson, Nancy K. Steele, Sara J. Thelin, and James W. ThelinPart V. Psychological Issues in CHARGE Chapter 27. BehaviorTimothy S. HartshorneChapter 28. Psychiatric IssuesSusan WileyChapter 29. PainKasee K. StrattonChapter 30. Stress Kasee K. StrattonChapter 31. ParentingTimothy S. HartshorneChapter 32. Educational IssuesLillian J. SlavinAppendix. ChecklistsIndex