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

International Journal of Audiology

Volumn 46, Issue 4, 2007, Pages 196-202

  Bamiou, Doris Eva ^a,b   Campbell, Nicole G ^c   Musiek, Frank E ^d   Taylor, Rachael ^b   Chong, W K ^e   Moore, Anthony ^f   Van Heyningen, Veronica ^g   Free, Samantha ^h   Sisodiya, Sanjay ^h   Luxon, Linda M ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^d UNIVERSITY OF CONNECTICUT   (United States)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF EDINBURGH   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Aniridia; Central auditory processing; Child; Interhemispheric transfer; PAX6; Verbal working memory

Indexed keywords

AMNESIA; ANIRIDIA; ARTICLE; AUDIOGRAPHY; AUDITORY MEMORY; CASE REPORT; CORRELATION ANALYSIS; DICHOTIC LISTENING; EVOKED OTOACOUSTIC EMISSION; GENE; GENE MUTATION; GENETIC ANALYSIS; HEARING TEST; HEMISPHERE; HETEROZYGOSITY; HUMAN; MALE; NEUROIMAGING; PAX6 GENE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SCHOOL CHILD; SCORING SYSTEM; SPEECH AND LANGUAGE ASSESSMENT; TYMPANOMETRY; VERBAL MEMORY; WORKING MEMORY;

EID: 34047213021     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.1080/14992020601175952     Document Type: Article

References (37)

1. Bamiou, D.E., Musiek, F.E., Sisodiya, S.M., Free, S., Davies, R.A., et al. 2004. Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Ann Neurol, 56, 503-9.
2. Banich, M.T. 1998. The missing link: The role of interhemispheric interaction in attentional processing. Brain Cogn, 36, 128-57.
3. nd Ed.) Assessment and Management of Central Auditory Processing Disorders in the Educational Setting: From Science to Practice. Canada: Thompson Delmar Learning
4. Boatman, D., Vining, E.P., Freeman, J. & Carson, B. 2003. Auditory processing studied prospectively in two hemidecorticectomy patients. J Child Neurol, 18, 228-32.
5. British Society of Audiology 1981. Recommended procedure for pure tone audiometry using a manually operated instrument. Br J Audiol, 15, 213-216.
6. Buchanan, D.C., Waterhouse, G.J. & West, S.C. Jr. 1980. A proposed neurophysiological basis of alexithymia. Psychother Psychosom, 34, 248-55.
7. Fiez, J.A. 2001. Bridging the gap between neuroimaging and neuropsychology: Using working memory as a case study. J Clin Exp Neuropsychol, 23, 19-31.
8. Friederici, A.D. & Alter, K. 2004. Lateralization of auditory language functions: A dynamic dual pathway model. Brain Langu, 89, 267-76.
9. Hugdahl, K. 2003. Attentional modulation of interhemispheric transfer: A two-channel threshold model. In E. Zaidel & M. Iacoboni (eds.) The parallel brain. The cognitive neuroscience of the corpus callosum. Cambridge, Massachusetts: MIT Press, pp. 307-318.
10. Hurley, R.M. & Musiek, F.E. 1994. Effectiveness of transient-evoked otoacoustic emissions (TEOAEs) in predicting hearing level. J Am Acad Audiol, 5, 195-203.
11. Jones, L., López-Bendito, G., Gruss, P., Stoykova, A. & Molnar, Z. 2002. Pax6 is required for the normal development of the forebrain axonal connections. Development, 129, 5041-5052.
12. Kemp, D.T., Ryan, S. & Bray, P. 1990. A guide to the effective use of Otoacoustic Emissions. Ear Hear, 11, 93-105.
13. Lepore F,. Lassonde M. & Poirier P. 1994. Midline sensory integration in callosal agenesis. In: M. Lassonde & M.A. Jeeves (eds.) Callosal agenesis. A natural split brain. Advances in Behavioural Biology, vol 42. New York and London: Plenum Press, 155-170.
14. Lessard, N., Leporé, F., Villemagne, J. & Lassonde, M. 2002. Sound localization in callosal agenesis and early callosotomy subjects: Brain reorganization and/or compensatory strategies. Brain, 125, 1039-1053.
15. Mitchell, T.N., Free, S.L., Williamson, K.A., Stevens, J.M., Churchill, A.J., et al. 2003. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol, 53, 658-663.
16. Musiek, F.E., Baran, J.A. & Pinheiro, M.L. 1990. Duration pattern recognition in normal subjects and patients with cerebral and cochlear lesions. Audiology, 29, 304-13.
17. Musiek, F.E., Gollegly, K.M., Kibbe, K.S. & Verkest-Lenz, S.B. 1991. Proposed screening test for central auditory disorders: Follow-up on the dichotic digits test. Am J Otol, 12, 109-113.
18. Musiek, F.E. & Pinheiro, M.L. 1985. Dichotic speech tests in the detection of central auditory dysfunction. In M.L. Pinheiro & F.F. Musiek. (eds.) Assessment of central auditory dysfunction: Foundations and clinical correlates. Baltimore: Wakerly Press, pp. 201-218.
19. Musiek, F.E. & Reeves, A. 1986. Effects of partial and complete corpus callosotomy on central auditory function. In F. Leporè, M. Ptito & H.H. Jasper (eds.) Two hemispheres-one brain. Functions of the corpus callosum. New York: Alan Liss, pp. 423-434.
20. Musiek, F.E., Shinn, J., Jirsa, R., Bamiou, D.E., Baran, J., et al. 2005. GIN (Gaps-in-Noise) test performance in subjects with confirmed central auditory nervous system involvement. Ear Hear, 26, 608-618.
21. Musiek, F.E. 1983. Assessment of central auditory dysfunction: The dichotic digit test revisited. Ear Hear, 4, 79-83.
22. Musiek, F.E., Gollegly, K.M. & Ross, M.K. 1985. Profile of types of central auditory processing disorders in children with learning disabilities. J Childhood Com Dis, 9, 43-63.
23. Musiek, F.E. & Pinheiro, M.L. 1987. Frequency patterns in cochlear, brainstem and cerebral lesions. Audiology, 26, 79-88.
24. Noffsinger, D., Martinez, C.D. & Wilson, R.H. 1994. Dichotic listening to speech: Background and preliminary data for digits, sentences, and nonsense syllables. J Am Acad Audiol, 5, 248-54.
25. Pandya, D.N. & Seltzer, B. 1986. The topography of commissural fibers. In F. Leporé, M. Ptito & H.H. Jasper (eds.) Two hemispheres-one brain. Functions of the corpus callosum. New York: Alan Liss, pp. 47-73.
26. Passarotti, A.M., Banich, T.M., Sood, R.K. & Wong, J.M. 2002. A generalized role of interhemipsheric interaction under attentionally demanding conditions: Evidence from the auditory and tactile modalities. Neuropsychologia, 40, 1082-1096.
27. Paul, L.K., Van Lancker-Sidtis, D., Schieffer, B., Dietrich, R. & Brown, W.S. 2003. Communicative deficits in agenesis of the corpus callosum: Nonliteral language and affective prosody. Brain Langu, 85, 313-24.
28. Pinheiro, M.L. & Musiek, F.E. 1985. Sequencing and temporal ordering in the auditory system. In M.L. Pinheiro & F.E. Musiek. (eds.) Assessment of central auditory dysfunction: Foundations and clinical correlates. Baltimore: Wakerly Press, pp. 219-238.
29. Santhouse, A.M., Ffytche, D.H., Howard, R.J., Williams, S.C., Stewart, A.L., et al. 2002. The functional significance of perinatal corpus callosum damage: An fMRI study in young adults. Brain, 125, 1782-1792.
30. Sisodiya, S.M., Free, S.L., Williamson, K.A., Mitchell, T.N. & Willis, C. et al. 2001. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet, 28, 214-216.
31. Talamillo, A., Quinn, J.C., Collinson, J.M., Caric, D., Price, D.J., et al. 2003. Pax6 regulates regional development and neuronal migration in the cerebral cortex. Dev Biol, 255, 151-163.
32. Temple, C.M., Jeeves, M.A. & Vilarroya, O.O. 1990. Reading in callosal agenesis. Brain Lang, 39, 235-53.
33. Thompson, P.J., Mitchell, S.L., Free, S.L., Williamson, K.A., Hanosn, I.M., et al. 2004. Cognitive functioning in humans with mutations of the PAX6 gene. Neurology, 64, 1216-1218.
34. Tzoulaki, I., White, I.M. & Hanson, I.M. 2005. PAX6 mutations: Genotype-phenotype correlations. BMC Genet, 6, 27.
35. van Heyningen, V. & Williamson, K.A. 2002. PAX6 in sensory development. Hum Mol Genet, 11, 1161-7.
36. Wexler, B.E. & Halwes, T. 1983. Increasing the power of dichotic methods: The fused rhymed words test. Neuropsychologia, 21, 59-66.
37. Zaidel, E. 1986. Callosal dynamics and right hemisphere language. In F. Leporè, M. Ptito & H.H. Jasper. (eds.) Two hemispheres-one brain. Functions of the corpus callosum. New York: Alan Liss, pp. 436-461.