Edited by
Timothy S. Hartshorne, Ph.D.,
Margaret Hefner, M.S.,
Sandra Davenport, M.D., and
James W. Thelin, Ph.D.
A volume in the Genetic Syndromes and Communication Disorders Series
250 pages (approx.). Softcover. 7x10 in. Color Illustrations.
ISBN10: 1-59756-349-8. ISBN13: 978-1-59756-349-9.
US$79.95 CAN$90.00 £51.00 AUS$125.00
ABOUT THE BOOK
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.
CONTENTS
- 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
- 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
- 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 AUTHOR
Timothy S. Hartshorne, Ph.D.
Margaret Hefner, Ph.D.
Sandra Davenport, 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.
AUDIENCE
Primary: Speech-Language Pathologists, Audiologists
Secondary: Medical Genetics professionals; Otolaryngologists; Pediatricians; Gastroenterologists
