Auditory and verbal working memory deficits in a child with congenital aniridia due to PAX6 mutation. Deficiencias en la memoria auditiva y verbal de un niño con aniridia congénita debida a una mutación en el PAX6
Bamiou, Doris-Eva, Campbell, Nicole G., Musiek, Frank E., Taylor, Rachael, Chong, W.K., Moore, Anthony, van Heyningen, Veronica, Free, Samantha, Sisodiya, Sanjay and Luxon, Linda M. (2007) Auditory and verbal working memory deficits in a child with congenital aniridia due to PAX6 mutation. Deficiencias en la memoria auditiva y verbal de un niño con aniridia congénita debida a una mutación en el PAX6. International Journal of Audiology, 46, (4), 196-202. (doi:10.1080/14992020601175952).
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Description/Abstract
PAX6 encodes a transcriptional regulator that is essential for brain morphogenesis. Heterozygous PAX6 mutation is associated with aniridia and abnormalities of the interhemispheric pathway in humans. We present the case of a 12 year old boy with a known mutation of the PAX6 gene. There were parental concerns regarding his hearing, but repeated pure-tone audiograms were normal. He had a battery of standard central auditory tests, which gave abnormal results in tests which required auditory interhemispheric transfer (dichotic digits and pattern tests). A speech and language assessment, which yielded age-appropriate scores for speech, receptive and expressive language, revealed impaired verbal working memory. These test results were interpreted as indicating impaired auditory sensory and higher order interhemispheric transfer, consistent with reported findings in adults with mutations in PAX6, and correlated with his parent-reported hearing difficulties. This is the first report of central auditory and verbal working memory deficits in a child with a PAX6 mutation. Further research is needed to assess how these deficits impact on academic performance particularly in childhood.
| Item Type: | Article |
|---|---|
| ISSNs: | 1499-2027 (print) |
| Related URLs: | |
| Keywords: | central auditory processing, interhemispheric transfer, verbal working memory, PAX6, aniridia, child |
| Subjects: | R Medicine > RF Otorhinolaryngology T Technology > TA Engineering (General). Civil engineering (General) Q Science > QH Natural history > QH426 Genetics |
| Divisions: | University Structure - Pre August 2011 > Institute of Sound and Vibration Research > Human Sciences |
| Item ID: | 50426 |
| Date Deposited: | 25 Feb 2008 |
| Last Modified: | 02 Mar 2012 11:49 |
| Contributors: | Bamiou, Doris-Eva (Author) Campbell, Nicole G. (Author) Musiek, Frank E. (Author) Taylor, Rachael (Author) Chong, W.K. (Author) Moore, Anthony (Author) van Heyningen, Veronica (Author) Free, Samantha (Author) Sisodiya, Sanjay (Author) Luxon, Linda M. (Author) |
| Date: | April 2007 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/50426 |
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