Plural Publishing produces leading academic, scientific and clinical publications in the fields of speech-language pathology, audiology, and otolaryngology.


CHARGE Syndrome

Edited by: Timothy S. Hartshorne, Margaret A. Hefner, Sandra L.H. Davenport, James W. Thelin
408 pages, Color Illustrations (2 Color), Softcover, 7 x 10"
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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.


  • Wafaa Kaf, Communication Sciences and Disorders Department, Missouri State University, Springfield, Missouri, USA, International Journal of Audiology 2012 (2012):
    "Edited and authored by experts from a wide score of pediatricians and professionals, this is an excellent work that gives insight about everything professionals need to know about CHARGE syndrome in one book. Therefore, it is a must-have clinical reference book for specialists who are involved in the care of individuals with CHARGE. It allows a quick grasp of the essential points for multidisciplinary collaboration to provide appropriate evaluations, referrals, guidance, and treatment for individuals with CHARGE. I would also recommend this book to family members of individuals with CHARGE syndrome for educational and counseling purposes, to help parents understand the long-term health consequences of the syndrome and the steps they can take to help their child. The editors have done a great job crossing the barriers among these professionals in order for the book to serve as a professional and parental educational resource. In conclusion, thanks to the editors and the authors for an invaluable text to professionals, parents, and educators."

  • 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 S. Hartshorne

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 PhD is from the University of Texas at Austin, his MA from Colgate University, and BA 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 A. Hefner

Margaret Hefner is a Genetic Counselor and Associate Professor in the Division of Medical Genetics, Department of Pediatrics at Saint Louis University School of Medicine. Ms. Hefner 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 numerous materials for families and professionals, including the CHARGE Syndrome Management Manual for Parents, the New Parent Packet, and Professional Packet. One of the founders of the CHARGE Syndrome Foundation, Ms. Hefner served on the Board of Directors for 12 years and is now a Special Advisor to the Board, as well as chair of the Research Committee.

Sandra L.H. Davenport

Sandra L.H. Davenport, MD, CM got her undergraduate degree from Barnard College in New York City, her basic medical science degree from Dartmouth Medical School in Hanover, New Hampshire, and her M.D. from McGill University Faculty of Medicine in Montreal. Dr. Davenport completed her pediatric residency at the University of Washington in Seattle, along with two fellowships in the Comprehensive Care of Handicapped Children and in Abnormal Biologic Development. The focus of the Abnormal Biologic Development fellowship was deafness and was divided between genetics and the study of deafness from both a medical and cultural perspective, including taking a didactic course for ENT residents, spending time in the ENT clinic, beginning sign language, and learning about deaf culture. It was at this time that Dr. Davenport developed a life-long interest in deafblindness. Five years later, Dr. Davenport, Ms. Meg Hefner, and Dr. James Thelin presented a series of four patients at a scientific meeting that turned out to have CHARGE syndrome. This beginning led to further interest in both the medical aspects of the condition and the effects on development and communication.

James W. Thelin

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.

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