Page 97 - Clinical variability in Noonan syndrome with emphasison ear and eye

COCHLEAR IMPLANTATION IN NOONAN SYNDROME AND NOONAN SYNDROME WITH MULTIPLE LENTIGINES
Figure 5. Audiological results of patient 5
Right ear; Figure 5a presents the pre-implantation thresholds without hearing aids, Figure 5b presents the pre- implantation thresholds with hearing aids and Figure 5c presents the post-implantation thresholds with CI.
Left ear; Figure 5d presents the pre-implantation thresholds without hearing aids, Figure 5e presents the pre-implantation thresholds with hearing aids and Figure 5f presents the post-implantation thresholds with CI. The legend in the figure comprises the age at testing and the method used; VRA stands = Visual Reinforcement Audiometry, FU = follow-up sound field testing with CI and m = months.
Discussion
Patients compared with the literature
After cochlear implantation, audiological results, including speech recognition, increased in all of our patients with a mutation in PTPN11, despite an implantation at a relatively late age. In all of the patients there was language development; however, in the majority, due to intellectual disability and severe hearing loss during the first years of life, it was not age appropriate, except for the last case (3.5).
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