American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss |
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| Institution: | 1. Bobby R. Alford Department of Otolaryngology–Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA;2. Department of Science, Technology, and Mathematics, Gallaudet University, Washington, DC, USA;3. Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA;4. Department of Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA;5. Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA;6. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA;7. Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, USA;8. Laboratory for Molecular Medicine, Harvard Medical School, Cambridge, Massachusetts, USA;9. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA;10. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA;11. Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA;12. School of Medicine, University of Colorado Denver, Aurora, Colorado, USA. |
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| Abstract: | Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.Genet Med 2014:16(4):347–355. |
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