Hearing in Neuronopathic Gaucher Disease


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Hearing is a complicated process explained Pauline Campbell, Paediatric Audiologist at Derriford Hospital, Plymouth. Ms Campbell has tested children diagnosed with neuro-nopathic Gaucher Disease since 1998.


Hearing is a complicated process involving sound entering the inner ear (cochlea) and the signals being transmitted along the auditory pathway to the brain (central processing).

Hearing tests such as the auditory brainstem response test can be used to detect and monitor neurological deficits and is being used as a secondary outcome measure in the Zavesca trial for Type 3 Gaucher Disease. This test can be used on children at any age and requires no attention, in fact it is best measured while the child sleeps.

Although the auditory brainstem response test is sensitive to brainstem dysfunction, it does not detect higher level (cortical) processing abnormal-ities. At present there are no standard objective measures to monitor neurological outcome in this area.

Auditory difficulties

Primary auditory difficulties can involve difficulties listening in background noise, following oral instructions and understanding rapid or degraded speech even though a child's hearing is normal. These auditory deficits have been collectively termed auditory processing disorders.

Symptoms may become apparent in early or later school years due to changes in the acoustic environment or to increased academic demands. As a consequence of the primary auditory difficulties, children may have secondary language, reading and spelling disorders, as well as inattention and distractibility.

We propose to develop the technique of auditory event related potentials which will allow us to determine objectively whether the brain can discriminate between stimuli such as pitch or loudness differences. These tests will be an ideal way to detect a child's ability to process information without relying on the child to be able to respond in a conventional way such as speaking or pointing.


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Source: Gauchers News May 2005.
Copyright © Gauchers Association 2005.