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Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation

Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation
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
central auditory processing, interhemispheric transfer, verbal working memory, PAX6, aniridia, child
196-202
Bamiou, Doris-Eva
a8ef6fac-d4c1-4184-842c-cdc8cb7a616e
Campbell, Nicole G.
fde07dcf-4874-4bab-ab3a-c3bc3c0015da
Musiek, Frank E.
d9343f6b-66dc-4f3e-9ee1-c7ec99b5900e
Taylor, Rachael
bb7300b1-1203-4007-9a54-0c9b683526ac
Chong, W.K.
4f1a14d2-d6d8-4a6b-9466-3651b9682b48
Moore, Anthony
45d59c1c-a147-4df6-8c7c-5ef5e48a5703
van Heyningen, Veronica
08323cb8-896e-4a4b-a8cf-9066ec37254e
Free, Samantha
1b932676-3943-4585-a53b-f918c1827ab0
Sisodiya, Sanjay
322a3ac6-b8ab-44d8-bc9e-af9a2ba75d1f
Luxon, Linda M.
d0efdf71-3819-49ad-9b3b-1448381f6be4
Bamiou, Doris-Eva
a8ef6fac-d4c1-4184-842c-cdc8cb7a616e
Campbell, Nicole G.
fde07dcf-4874-4bab-ab3a-c3bc3c0015da
Musiek, Frank E.
d9343f6b-66dc-4f3e-9ee1-c7ec99b5900e
Taylor, Rachael
bb7300b1-1203-4007-9a54-0c9b683526ac
Chong, W.K.
4f1a14d2-d6d8-4a6b-9466-3651b9682b48
Moore, Anthony
45d59c1c-a147-4df6-8c7c-5ef5e48a5703
van Heyningen, Veronica
08323cb8-896e-4a4b-a8cf-9066ec37254e
Free, Samantha
1b932676-3943-4585-a53b-f918c1827ab0
Sisodiya, Sanjay
322a3ac6-b8ab-44d8-bc9e-af9a2ba75d1f
Luxon, Linda M.
d0efdf71-3819-49ad-9b3b-1448381f6be4

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 a PAX6 mutation. International Journal of Audiology, 46 (4), 196-202. (doi:10.1080/14992020601175952).

Record type: Article

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

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More information

Published date: April 2007
Keywords: central auditory processing, interhemispheric transfer, verbal working memory, PAX6, aniridia, child
Organisations: Human Sciences Group

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Local EPrints ID: 45692
URI: https://eprints.soton.ac.uk/id/eprint/45692
PURE UUID: c3f3cdab-4a86-4f36-9791-00d5f87258a0

Catalogue record

Date deposited: 17 Apr 2007
Last modified: 13 Mar 2019 21:05

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