Clinical observations and molecular variables of @entity1 with XXXX and incomplete partition type III.

@entity1 @entity2167 @entity600 @entity445 @entity20059 @entity389 @entity393
OBJECTIVES/HYPOTHESIS: To analyze the clinical manifestations and genetic features of @entity1 with @entity393 ( @entity393 ) and @entity445 ( @entity445 ) @entity600 , and to evaluate speech performance after cochlear implantation (CI) in these @entity1 . STUDY DESIGN: Individual retrospective cohort study. METHODS: Of 206 probands with @entity389 ( @entity389 ), we constructed a homogeneous cohort of 11 genetically documented @entity445 type III ( @entity20059 ). Mutations affecting @entity20059 were classified as extension (n = 2), truncation (n = 3), large genomic deletion (n = 2), or missense substitution (n = 4). Postoperative outcomes were rigorously assessed with focus on @entity20059 genotypes and compared with 80 age-matched implantees without @entity389 . RESULTS: @entity393 in our cohort was prelingual in onset irrespective of degree. Serviceable hearing was obtained by wearing conventional hearing aids in three, and eight subjects required CI. No correlation was found between mutation types and @entity2167 . As for the eight cochlear implantees, average Categories of Auditory Perception score was <1 preoperatively and 3.9 at 2 years post-CI. Speech performances improved over the first 3 months postoperatively in a manner comparable to implantees without @entity389 . However, it then tended to slow down until 1 year postoperatively, leading to worse scores at 2 years than implantees without @entity389 . Furthermore, this was more evident in those with a truncation or deletion mutation. CONCLUSIONS: CI surgeons should be aware that postoperative auditory performance may be not as good in @entity445 type III @entity1 as in @entity1 without @entity389 . In particular, our study implies that certain types of @entity20059 mutations may have poorer prognoses than other types after CI. LEVEL OF EVIDENCE: 4. Laryngoscope, 2015.
