Genetics and Hearing Loss The primary goal of infant hearing screening is, of course, the improved outcome of speech and language in those identified early. There is, however, another major advantage in the early detection of hearing loss. Hearing loss identified by newborn screening can prompt an early investigation into the etiology of the ... Article
Article  |   October 01, 2012
Genetics and Hearing Loss
Author Affiliations & Notes
  • G. Bradley Schaefer
    Department of Genetics and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR
  • Disclosure: G. Bradley Schaefer has no financial or nonfinancial relationships related to the content of this article.
    Disclosure: G. Bradley Schaefer has no financial or nonfinancial relationships related to the content of this article.×
  • Dr. Schaefer is a Professor of Genetics and Pediatrics at the University of Arkansas for Medical Sciences. He is the Founding Director of the Division of Medical Genetics and the Chief of the Section of Genetics and Metabolism in the Department of Pediatrics at UAMS. He is also the Medical Director of the Genetic Counseling Training program at UAMS. He is the inaugural holder of the Committee for the Future Endowed Chair in Medical Genetics.
    Dr. Schaefer is a Professor of Genetics and Pediatrics at the University of Arkansas for Medical Sciences. He is the Founding Director of the Division of Medical Genetics and the Chief of the Section of Genetics and Metabolism in the Department of Pediatrics at UAMS. He is also the Medical Director of the Genetic Counseling Training program at UAMS. He is the inaugural holder of the Committee for the Future Endowed Chair in Medical Genetics.×
  • He has achieved board certification in Pediatrics, Human Genetics, and Pediatric Endocrinology. He is a founding fellow of the American College of Medical Genetics and a fellow of the American Academy of Pediatrics. He is a member of the American Pediatric Society.
    He has achieved board certification in Pediatrics, Human Genetics, and Pediatric Endocrinology. He is a founding fellow of the American College of Medical Genetics and a fellow of the American Academy of Pediatrics. He is a member of the American Pediatric Society.×
  • He has authored more than 250 scientific articles, book chapters, and invited reviews. He is on the editorial board of the Journal of Child Neurology, and sits on the National Advisory Board for the Sotos Syndrome Support Association.
    He has authored more than 250 scientific articles, book chapters, and invited reviews. He is on the editorial board of the Journal of Child Neurology, and sits on the National Advisory Board for the Sotos Syndrome Support Association.×
  • His clinical and research interests focus on the genetics of neurodevelopmental, neurosensory and neurobehavioral disorders; craniofacial genetics, medical transition for Children with Special Health Care needs; Tele-genetics services; and Newborn Screening follow up and infrastructure.
    His clinical and research interests focus on the genetics of neurodevelopmental, neurosensory and neurobehavioral disorders; craniofacial genetics, medical transition for Children with Special Health Care needs; Tele-genetics services; and Newborn Screening follow up and infrastructure.×
Article Information
Hearing Disorders / Special Populations / Genetic & Congenital Disorders / Early Identification & Intervention / Articles
Article   |   October 01, 2012
Genetics and Hearing Loss
SIG 9 Perspectives on Hearing and Hearing Disorders in Childhood, October 2012, Vol. 22, 35-45. doi:10.1044/hhdc22.2.35
SIG 9 Perspectives on Hearing and Hearing Disorders in Childhood, October 2012, Vol. 22, 35-45. doi:10.1044/hhdc22.2.35

The primary goal of infant hearing screening is, of course, the improved outcome of speech and language in those identified early. There is, however, another major advantage in the early detection of hearing loss. Hearing loss identified by newborn screening can prompt an early investigation into the etiology of the loss. Most cases of hearing loss detected by newborn screening have a genetic etiology. A genetics evaluation can provide the family and providers with several critical pieces of information. For many families, simply knowing the “why” is an important question. Identifying an etiology can also answer questions about recurrence risks for the immediate and extended family. In addition, many of the causes of childhood hearing loss have associated medical conditions, some of which can be medically serious. Knowledge of these risk factors can lead to interventions that prevent morbidity and mortality. All health care providers who work with children with a hearing loss should be aware of the details of a genetic evaluation. They should be prepared to share with the family information regarding the process, the diagnostic yield, and the risks and benefits of such an evaluation.

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