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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients.

Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish Usher syndrome type III patients (USH3) with Finmajor/Finmajor (n = 55) and Finmajor/Finminor (n = 4) USH3A mutations. These patients showed a highly variable type and degree of progressive sensorineural hearing impairment: from normal to moderate USH2A-like hearing impairment at young ages to profound or even USH1B-like hearing impairment at more advanced ages. Compound heterozygous patients generally showed a milder phenotype. The highest progression was seen during the first two decades of life, gradually slowing down with further ageing. This type of non-linear progression may be unique amongst the Usher syndromes. Speech recognition started to deteriorate at highly variable ages. In some patients, it jeopardised normal speech and language development, whereas in others it was still remarkably good at advanced ages.[1]


  1. Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Plantinga, R.F., Kleemola, L., Huygen, P.L., Joensuu, T., Sankila, E.M., Pennings, R.J., Cremers, C.W. Audiol. Neurootol. (2005) [Pubmed]
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