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Cochlear implantation in children with "CHARGE syndrome": surgical options and outcomes
Giampietro Ricci1, Franco Trabalzini, Mario Faralli
1Department of Otolaryngology, University of Perugia, Loc. S. Andrea delle Fratte, 06156, Perugia, Italy, ricci1501@hotmail.com.
Insights
Cochlear implantation (CI) is feasible in children with CHARGE syndrome, a rare genetic disorder causing profound hearing loss. While anatomical anomalies present challenges, early CI offers potential auditory and communication benefits, though outcomes vary.
Area of Science:
- Otolaryngology
- Genetics
- Pediatrics
Background:
- CHARGE syndrome is a rare genetic disorder causing multiple congenital anomalies.
- Bilateral, severe-to-profound sensorineural hearing loss is a common and significant feature in children with CHARGE syndrome.
- Cochlear implantation (CI) is a potential intervention for hearing restoration in affected children.
Purpose of the Study:
- To evaluate the feasibility and outcomes of cochlear implantation (CI) in children diagnosed with CHARGE syndrome.
- To report on the frequency of intraoperative anatomical anomalies encountered during CI in this population.
- To assess the audiological and rehabilitative benefits following CI in children with CHARGE syndrome.
Main Methods:
- A cohort of 5 children with CHARGE syndrome and profound, bilateral, sensorineural hearing loss underwent cochlear implantation (CI).
- Preoperative assessments included otoacoustic emissions, auditory brainstem response, acoustic impedance testing, CT, and MRI.
- Surgical approaches varied (mastoidotomy-posterior tympanotomy or suprameatal), and audiological performance was evaluated using the Infant Toddler Meaningful Auditory Integration Scale.
Main Results:
- All patients presented with significant intraoperative anatomical malformations, including cochlear, ossicle, and semicircular canal anomalies, as well as varying degrees of window atresia.
- No intraoperative or postoperative complications related to implant positioning were recorded.
- Post-CI follow-up (1-4.5 years) showed variable linguistic development: 2/5 used oral language solely, 1 began using it as the main communication method, and 2 did not develop linguistic abilities.
Conclusions:
- Cochlear implantation (CI) is a feasible surgical option for children with CHARGE syndrome experiencing severe hearing loss.
- Early CI is recommended due to potential benefits, despite the variability in audiological and speech outcomes.
- The suprameatal surgical approach may be advantageous when standard anatomical landmarks are compromised by malformations.
Abstract:
CHARGE syndrome is a rare, polymalformative disease, representing one of the major causes of associated blindness and deafness. Bilateral, severe-profound, sensorineural hearing loss is common in CHARGE children. Aim of this study is to present our results in children with "CHARGE syndrome" submitted to cochlear implantation (CI). The frequency of anatomic anomalies, possible variations in the surgical technique of CI, and the audiological/rehabilitative benefits attained in our patients are reported. we submitted 5 children affected by CHARGE syndrome with profound, bilateral, sensorineural hearing loss to CI. Otoacoustic emissions, auditory brainstem response, acoustic impedance testing, cranial computed tomography and magnetic resonance were carried out preoperatively in all children. CI was performed using the mastoidotomy-posterior tympanotomy approach in two cases, and the suprameatal approach in three children. Infant toddler-meaningful auditory integration scale was used to evaluate kid's audiological performance before and after CI. Intra-operatory findings and postsurgical complications were evaluated. Among our patients, intraoperative anatomical malformations were cochlear hypoplasia (100 %), ossicles malformations (100 %), semicircular canals aplasia (100 %), oval window atresia (60 %), round window atresia (40 %), widening of the aqueduct of the vestibule (20 %), and aberrant course of the facial nerve (20 %). No intra- or postoperative complication was recorded in relation to implant positioning. After a follow-up ranging from 1 to 4.5 years, only 2/5 patients used oral language as the sole mean of communication, 1 started utilizing oral language as the main mean of communication, while 2 patients did not develop any linguistic ability. In conclusion, CI in patients with CHARGE association is feasible and, despite results variability, it should be carried out in CHARGE children with severe hearing loss as soon as possible. Although the selection of a specific surgical technique does not seem to influence the audiological outcome, the suprameatal access is valuable when important surgical landmarks (i.e. lateral semicircular canal and incus) are absent.