Overview

CHARGE syndrome affects approximately 1:10,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and only as recently as 2004 was a gene for CHARGE found. In addition to a host of other conditions, most individuals have communication-related problems, including breathing, swallowing, hearing and balance, and speech.

Each of the editors is established as an expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Star in CHARGE, and represent four different disciplines: sensory genetics and neurodevelopment, genetic counseling, audiology, and psychology. They have concluded that studies have advanced to the degree that a single source of information is necessary. This, the first known book on the subject, describes the sensory, physical, and behavioral findings in CHARGE, indicates what kinds of studies need to be done to confirm the findings, and describes how these findings affect the function and development of the individual with CHARGE.

Audience

Primary Subject: Special Education
Secondary Subject: Speech and Language Pathology / Genetics and Syndromes
Secondary Subject: Audiology / Genetics and Syndromes
Audience Level: Professional

• Introduction
• Part I: Overview of Sensory Deficits and Their Effects
• Specific Anomalies That Affect Sensory Function
  • Eyes and Vision
  • Auditory System and Hearing
  • Smell
  • Taste
  • Touch, Pain, and Pressure
  • Vestibular Mechanism, Balance, and Mobility
• Other Physical Issues
  • Facial Palsy
  • Fatigue
• Part II: Describing and Evaluating Sensory and Other Medical Issues
• Otorhinolaryngologic Issues
  • Otologic Issues: Anomalies and Disease
  • PE Tubes, Chronic Middle Ear Infections, Otologic Issues: Cochlear Implantation
  • Rhinologic Issues
  • Smell: The Olfactory System
• Audiologic Issues
  • Overview
  • Audiologic Assessment
  • Obstacles to Audiologic Assessment and Modification of Audiologic Procedures
  • Common and Distinctive Audiologic Findings
  • Amplification
• Ophthalmologic Issues: Coloboma and Visual Issues
  • Balance and the Vestibular System
• Airway
  • Choanal atresia
  • TEF/EA
  • Cleft lip & palate
  • Cranial nerves 9 & 10
  • Laryngotracheomalacia
• Feeding
  • Cranial nerves 9 & 10; 7 & 12
  • Swallow studies and sedation
  • Nissen and reflux
  • Feeding tubes or buttons
  • Constipation
• Heart
• Neurological
  • Seizures
  • Brain anomalies: frequency
  • Other neurological findings
• Other Physical Issues
  • Renal and Urinary Anomalies
  • Endocrine
  • Immune problems
  • Skeletal anomalies
  • Teenage and Adulthood
• Part III: Communication Systems and Language Development
  • Overview
  • Forms and functions in the language of children with CHARGE with significant language delays
  • Prelinguistic assessment strategies and indicators of linguistic development
• Part IV: Developmental Issues
• Changes During the Life Cycle
  • Infancy
  • Childhood
  • Teenage
  • Adulthood
• Physical
  • Locomotion
• Cognitive
• Social/Emotional
• Part V: Psychological Issues
• Behavioral Phenotype
• Neurological issues and pain
• Toileting
• Sleep
• Psychiatric issues and medication
• Parenting
• Attachment and Bonding
• Stress
• Part VI: Questions for Future Research
• Smell
• Adult medical issues
• Adult psychological issues
• Sensory receptors
• Autonomic nervous system
• Index.

About The Editors

Timothy Hartshorne, Ph.D.

Tim Hartshorne is Professor of psychology at Central Michigan University, where he has been since 1989. Before that he spent eleven years at Wichita State University. His Ph.D. is from the University of Texas at Austin, his M.A. from Colgate University, and B.A. from Grinnell College. His area of professional specialization is school psychology, and he is a Nationally Certified School Psychologist.

Dr. Hartshorne has been interested in CHARGE Syndrome since 1989 when his son was born with the syndrome. When it became increasingly clear in the mid-1990s that many children with CHARGE develop severe behavioral problems, he began to devote most of his research to this problem. In addition to his publications on CHARGE, he has presented at every U.S. CHARGE conference, every Australasian conference, the European conference, Scandinavian conference, and conferences in several other countries. In 2005 he was awarded the Star in CHARGE by the CHARGE Syndrome Foundation.

Dr. Hartshorne is grant holder for Michigan Services to Children and Young Adults who are DeafBlind. Among the professional societies to which he belongs is the Society for the Study of Behavioral Phenotypes.

---

Margaret Hefner, MS

Margaret Hefner is a Genetic Counselor at Saint Louis University and Special Advisor for the CHARGE Syndrome Foundation.

---

Sandra Davenport, MD, CM

Sandra Davenport is Owner and Director of Sensory Genetics/Neurodevelopment in Bloomington, Minnesota.

---

James Thelin, Ph.D.

James Thelin, Ph.D. began his career practicing audiology, teaching medical students and resident physicians, and conducting research in the medical schools at the Universities of Cincinnati and Missouri. He now teaches graduate students in audiology and conducts research at the University of Tennessee. His research has focused on hearing, balance, and communication in CHARGE syndrome. He is a founding member and currently serves on the Board of the CHARGE Syndrome Foundation.