Spectrum of hearing disorders and their management in children with CHARGE syndrome.
OBJECTIVE
The CHARGE syndrome is associated with ear anomalies and deafness in addition to other malformations. Deformations of the ossicles or aplasia of the semicircular canals, cochlear hypoplasia, hypoplasia or aplasia of the VIIIth cranial nerve and abnormal routing of the VIIth cranial nerve, sigmoid sinus, and emissaries are typical findings. The aim of this study is to explore the feasibility and procedure of cochlear implantation in patients with CHARGE syndrome and to assess the outcome.


METHODS
Retrospective case review.


METHODS
Tertiary referral center; cochlear implant program.


METHODS
Ten patients with CHARGE syndrome and 3 patients with CHARGE-like syndrome treated in our center due to hearing impairment. Eleven patients were congenitally deaf, 1 patient had progressive hearing loss, and 1 patient had mixed hearing loss.


METHODS
Computed tomography of temporal bones and magnetic resonance imaging of the brain; bone-anchored hearing aid surgery, cochlear implantation, rehabilitation results.


METHODS
Surgical suitability and hearing rehabilitation.


RESULTS
We illustrate the management of preoperative diagnostics, surgical planning, and hearing rehabilitation. One patient with mixed hearing loss underwent bilateral bone-anchored hearing aid surgery. Because 2 patients had bilateral aplasia of the auditory nerves, we recommended an auditory brainstem implant. The unilateral cochlear implantation was performed in 9 patients and bilateral in 1 patient. In selected cases, it was helpful to plan the operation using a simulator for temporal bone surgery. Complex malformations, such as in CHARGE syndrome, with an increased intraoperative risk for complications should be facilitated by using intraoperative digital volume tomography-assisted navigation and intraoperative digital volume tomography control of electrode position. The results after CI surgery vary due to the differing extent of additional disabilities such as developmental delay, intellectual delay, and visual impairment. Nine of our patients showed improved responsiveness with the cochlear implant. Open speech comprehension could not be observed in 8 patients, whereas the follow-up period was less than 1 year in 4 patients. The relatively high age of our patients at implantation might be an important factor.


CONCLUSIONS
Careful planning of the treatment of CHARGE syndrome patients with sensorineural hearing loss can, to a limited extent, lead to auditory benefit without increasing surgical complications. Cochlear implantation is therefore indicated after critical assessment.
Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany. susan.arndt@uniklinik-freiburg.de
Susan
S
Arndt
Roland
R
Laszig
Rainer
R
Beck
Christian
C
Schild
Wolfgang
W
Maier
Ralf
R
Birkenhäger
Stefanie
S
Kroeger
Thomas
T
Wesarg
Antje
A
Aschendorff
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000601:surgery*; D000293:Adolescent; D000328:Adult; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D003054:Cochlear Implants; D007758:Ear, Inner / Q000000981:diagnostic imaging / Q000601:surgery*; D005260:Female; D006311:Hearing Disorders / Q000000981:diagnostic imaging / Q000601:surgery*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D013577:Syndrome; D016896:Treatment Outcome