Cochlear Implantation in CHARGE Syndrome

LI Wanxin; WANG Ning; HUANG Shasha; LI Beicheng; DAI Pu

doi:10.3969/j.issn.1672-2922.2017.02.008

Abstract：Objective The acronym, CHARGE, represents a set of clinical presentations, including:C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or central nervous system anoma-lies, G-genital hypoplasia, and E-ear anomalies and/or deafness. CHARGE syndrome is a rare, usually sporadic autoso-mal dominant hereditary disease, 2/3 of which caused by CHD7 gene mutation. For CHARGE patients with profound sensorineural hearing loss (SNHL), discrepancy of outcome after cochlear implantation (CI) exists in literatures. Materi-als and Methods Three patients with profound SNHL diagnosed with CHARGE syndrome were hospitalized and re-ceived CI, with their CHD7 genes sequenced. They were followed up for 3 year after operation, and hearing response and language development were monitored. Results All three patients received CI, and CHD7 gene mutations were found in two patients. Surgical procedures were rather difficult in cases with severe malformation. After three years of follow-up with hearing and language rehabilitation, one patient showed hearing response, but no language development;one patient showed neither hearing response, nor language development;while the 3rd patient showed both hearing re-sponse and good language development. Conclusions For CHARGE patients with profound SNHL, CI may improve their auditory response and language skills, but surgical procedures are difficult, depending on the degree of malforma-tion, with outcomes not always optimistic.