Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have epilepsy. Treatment of epilepsy in PMS may require multiple anticonvulsants, and in a minority of cases, seizures remain poorly controlled.
View Article and Find Full Text PDFJAMA Otolaryngol Head Neck Surg
December 2024
Importance: Speech recognition outcomes with a cochlear implant (CI) are highly variable. One factor suggested to correlate with CI-aided speech recognition is frequency-to-place mismatch, or the discrepancy between the natural tonotopic organization of the cochlea and the electric frequency allocation of the CI electrodes within the patient's cochlea.
Objective: To evaluate the association between frequency-to-place mismatch and speech recognition outcomes in a large cohort of postlingually deafened adult CI users, while controlling for various clinical factors known to be associated with those outcomes.
Objective: To assess the factors that drive a patient's selection of cochlear implant (CI) manufacturer.
Study Design: Prospective survey study.
Setting: Tertiary referral center.