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Transcript
S5-7
EAS and residual hearing with positive genetic background
1
Kumakawa K. , Usami S.-I.
2
1
Toranomon Hospital, Otolaryngology and Hearing Center, Tokyo, Japan, 2Shinshu University School of Medicine, Otolaryngology,
Natsumoto, Japan
Intro: The proof of positive genetic mutation encourages patients to receive an earlier intervention. Furthermore,
it has been proved to predict the future pattern of deafness to some extent from the sub type of mutations. Such
information will be useful even for EAS surgery with resuidal hearing.
Methods: Genetic screening test for deafness has been already approved in Japan and can be covered with
public insurance system. Responsible 13 genes and 46 mutations can be checked using Invader assay ( Usami ,
Abe: 2008) in deafness patients. The carrier diagnosis without deafness is not permitted ethically.
Results:
1. Results of genetic screening test in patients with deafness
Since March 2009 , this test was applied to 106 patients with profound deafness at Toranomon Hospital, and
responsible mutations were detected in 46 patients (43.4%). Some patients with GJB2, SLC26A4, mit1555,
mit3243, KCNQ4 mutation thought to be candidates for EAS from the standpoint of audiological criteria.
2. A case report
A 6 Y/o girl passed NHS, but she showed bilateral progressive asymptomatic hearing impairment. Her parents
had normal hearing and no other person with severe hearing problem in her family. Pre-operative PTA showed
residual hearing bilaterally. Audiological assessment with HA (Naida V) using mono-syllable test showed 5% in
right ear and 25% in left ear, word test for infant showed 20% in right and 76% in left.Her blood genetic test
showed that she had mit3243A>G mutation (heteroplasmy 2%). This meant her hearing will take a turn for the
worse. Her parents hoped to get better speech results with hearing preservation on the worse right ear, and they
agreed to receive CI (PULSAR FLEX24) operation in the right ear. After 17 months, the residual hearing in the
low frequencies is preserved and the mean deterioration was 6.8dB. Post-operative audiological assessment
using word test for infant showed 100% in the right EAS. The hearing thresholds using original EAS and DUET2
were compared. Hearing thresholds using DUET2 showed better results than using original EAS ( CI+HA).
Discussions and Conclusions: As a genetic background, patients with GJB2, SLC26A4, mit1555, mit3243,
KCNQ4 mutation can be candidates for EAS from the standpoint of audiological criteria. The proof of positive
genetic mutation encourages patients to receive an earlier intervention including EAS. Furthermore, it is possible
to predict the future progressiveness of deafness and will also contribute to select the electrode length.
274