Сochlear implantation in patients with CHARGE syndrome

Kh.M. Diab, N.A. Daykhes, O.A.Pachinina, T.S. Dmitieva, O.S. Panina, M. Hariri

Objective: To present the cases of cochlear implantation in patients with CHARGE-syndrome;  evaluate the audiological outcomes following cochlear implantation

Patients and Methods: CHARGE syndrome is a complex genetic disorder that often includes hearing loss among plenty of symptoms, making cochlear implantation a critical intervention for improving auditory function and overall quality of life. Most patients with CHARGE syndrome have profound hearing loss and severe vision loss (”DeafBlindness”). Hearing loss is often due to abnormalities in the structure of the external, middle and inner ear; inflammatory diseases of the middle ear and pathology of the Eustachian tube, nasopharynx. 

The data of 9 patients with deafness and CHARGE syndrome who underwent cochlear implantation on the base of the NRMCO were evaluated. Detailed pre-operative and post-operative evaluations were conducted to monitor auditory performance and developmental progress.

Results: According to CT and MRI data in patients with CHARGE syndrome we revealed cochlear hypoplasia type III in 6 cases, incomplete partition type I in 2 cases; in 1 case cochlea was normal. In all cases FN position was not standard, but in 4 cases it totally closed the area of round window niche. Standard approach with retro-auricular C-shaped incision, mastoidectomy, posterior tympanotomy was performed in most of the cases. In 1 case we performed transmastoid-transcanal approach. In 7 cases the round window membrane was not identified because of the abnormal course of facial nerve on the promontory; the electrode was inserted via cochleostomy. The intraoperative measurements showed normal impedance and normal neuronal response telemetry. A postoperative CT scan showed adequate active electrodes position. No complications were observed. Post-operative audiological results were predominantly moderate, with patients demonstrating improved reactions to sounds. Notably, while the auditory improvements were significant, the overall developmental progress in these patients showed marked intensification, suggesting that cochlear implantation positively influenced their broader developmental trajectories.

Conclusion: This study underscores the potential benefits of cochlear implantation in patients with CHARGE syndrome, not only in terms of auditory improvements but also in enhancing overall developmental outcomes. The findings highlight the importance of individualized surgical approaches and comprehensive post-operative care to maximize the benefits of cochlear implantation in this complex patient population.

Panel presentation of CI in Late Prelingual Hearing Loss