A genetic approach to the child with sensorineural hearing loss.
This article presents an overview of current topics related to the genetics of hearing loss. The review focuses on the approach toward a child with a sensorineural hearing loss of unknown etiology and the incorporation of genetic testing into the workup. Nongenetic causes of hearing loss are reviewed, as they are important in the differential diagnosis when considering a genetic basis for a child's hearing loss. The implications of universal newborn hearing screening and its implementation in many states are also addressed. Furthermore, important factors involved in the clinical diagnosis of the etiology of hearing loss, as well as factors relating to intervention and management of children with hearing loss are discussed. Finally, this review will consider genetic counseling for hearing loss and some of the issues important to the Deaf community.
Rehm
Heidi L
HL
Department of Pathology, Brigham & Women's Hospital, and Laboratory for Molecular Medicine, Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, Cambridge, MA, USA. hrehm@hms.harvard.edu
D005817:Genetic Counseling / Q000379:methods; D005821:Genetic Techniques; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*