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The benefits of testing for hearing loss, particularly genetic hearing loss is that we can then identify the cause of hearing loss, predict whether the hearing loss will worsen and help with treatment decisions. It reduces the need to perform other clinical tests that are used to find other causes of the hearing loss and provides information as to whether future children or other persons in the family might develop hearing loss. Usually the paediatric otolaryngologist or geneticist obtains a family history to see whether any other member of the family developed permanent hearing loss in early life and then we can establish whether there is a distinct history of dominant sensori-neural hearing loss. However most cases of genetic hearing loss do not have any family history. In this case the parents are often “carriers” of a single gene mutation and each parent passes on the mutation to a child who then manifests hearing loss. A number of special tests are performed for children with sensori-neural hearing loss including tests for any blood conditions, thyroid function, renal (kidney) function and various bacterial and viral tests to see whether prenatal infection was involved. Some children will require an eye examination and some will require an electrocardiogram to ensure there are no problems with the heart. In addition CT scan or MRI Xrays of the inner ear and brain may be performed. There are some specific blood tests available which test for gene abnormalities and the most common is the Connexin 26 gene test, although there are many other similar tests being performed for other rarer conditions. This test is indicated in any child with congenital or early onset hearing loss with or without a family history of hearing loss. In most cases a positive test result occurs when 2 mutations are found.

All children with sensori-neural hearing loss are referred to Australian Hearing Services which is a unique and outstanding organization which supplies free hearing aids to children up to the age of 21. Cochlear implantation, where indicated can be assessed and habilitated in specialized centres in children’s hospitals and other centres. Schools for the deaf of which there are 2 in Perth, the Telethon Speech and Hearing Centre for Children (a private facility) and Western Australian Institute for Deaf Education (WAIDE) which is a public institution, are both renowned institutes for habilitation for children with sensori-neural hearing loss.

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