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Updated: Jun 5, 2026
Robotic Cochlear Implantation for Direct Cochlear Access
Published on: June 16, 2022
Cochlear implantation in syndromic patients: difficulties and lessons learnt
Mina Fayez Saleeb1, Lobna El Fiky1, Badr Eldin Mostafa1
1Otorhinolaryngology Department Faculty of Medicine, Ain Shams University, Ramses Street, Abasseyia Square, Cairo, 11566, Egypt.
Insights
This study found that 4.3% of pediatric cochlear implant patients had syndromes, with Jervell and Lange Nielsen syndrome being most common. While most syndromic cases had normal inner ear anatomy, careful evaluation is crucial for successful cochlear implantation.
Area of Science:
- Otolaryngology
- Genetics
- Pediatrics
Background:
- Syndromic hearing loss (HL) is a significant factor in pediatric cochlear implantation.
- Understanding the prevalence of specific syndromes and associated malformations is crucial for surgical planning and patient management.
Purpose of the Study:
- To determine the prevalence of syndromes in children undergoing cochlear implantation.
- To identify inner and middle ear malformations in syndromic patients.
- To document surgical difficulties encountered during cochlear implantation in this cohort.
Main Methods:
- Retrospective chart review of pediatric patients who underwent cochlear implantation between 2018 and 2023.
- Analysis of preoperative imaging for inner and middle ear malformations in syndromic cases.
- Documentation of intraoperative findings and surgical challenges.
Main Results:
- Out of 1024 children, 45 (4.3%) had associated syndromes, most commonly Jervell and Lange Nielsen (34%) and Waardenberg syndrome (32%).
- Inner ear malformations (IEM) were present in 9 cases (20%), including 6 cases of perilymph gusher. Middle ear anomalies and facial nerve abnormalities were also noted.
- Surgical outcomes for syndromic patients were comparable to non-syndromic controls.
Conclusions:
- Syndromic hearing loss requires individualized assessment for inner and middle ear malformations.
- Associated disabilities in syndromic patients can impact rehabilitation.
- Comprehensive medical evaluations are recommended for all children with congenital hearing loss to identify syndromic etiologies.
Objective:
Identify the prevalence of syndromes in a cohort of patients who underwent cochlear implantation, to report on the presence of inner and middle ear malformations and highlight the surgical difficulties encountered.
Study Design:
Observational, retrospective study.
Setting:
Tertiary referral children's hospital pediatric cochlear implant program.
Material & Methods:
An IRB-approved retrospective chart review of children undergoing cochlear implantation at a tertiary academic medical center, from 2018 to 2023. Preoperative imaging data of syndromic patients in that cohort with special attention to the presence of inner ear or middle ear malformations were collected. Abnormal intraoperative findings and difficulties reported by the surgeons were also noted.
Results:
1024 children were unilaterally implanted for bilateral profound hearing loss. There were 45 cases diagnosed with associated syndromes (4.3%). The commonest syndromes were Jervell and Lange Nielsen (JLN) syndrome followed by Waardenberg syndrome (WS), in a prevalence of 34% and 32% respectively. These syndromes had no associated inner ear malformations (IEM). Less common syndromes included Branchio-oto-renal (BOR) syndrome, CHARGE association and Treacher Collins syndrome, 3 cases each, and keratosis icthyosis deafness syndrome (KID), Usher syndrome and Albino, 2 cases each and an H syndrome case. There were 9 cases (20%) with IEM, with 6 cases of perilymph gusher. Two cases had middle ear anomalies and one case had a facial nerve course abnormality. The outcome of these cases was similar to non-syndromic cases.
Conclusion:
Children with syndromic HL should be dealt with on a case by case scenario to diagnose inner and middle ear malformations. Additional disabilities can affect the rehabilitation procedures. All children with congenital hearing loss should undergo pediatric, cardiologic, ophthalmologic and nephrologic examination in order to exclude the syndromic etiology of hearing loss.
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