Related Experiment Video
Updated: Mar 1, 2026
Systematic Hearing Performance Evaluation Process for Adolescents with Cochlear Implantation at Early Ages
Published on: March 24, 2023
Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome
Meredith A Holcomb1, Habib G Rizk1, Nevitte S Morris1
1Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, United States.
Insights
Sensorineural hearing loss (SNHL) affects most Johanson Blizzard Syndrome (JBS) patients. Cochlear implantation (CI) in a child with JBS showed improved sound awareness, though spoken language gains were limited.
Area of Science:
- Otolaryngology
- Genetics
- Pediatrics
Background:
- Sensorineural hearing loss (SNHL) is a common characteristic of Johanson Blizzard Syndrome (JBS), affecting over 80% of individuals.
- Limited research exists on the efficacy of cochlear implantation (CI) for managing SNHL in pediatric JBS cases.
Observation:
- A 5-year-old male diagnosed with JBS and profound bilateral SNHL underwent bilateral cochlear implantation.
- The patient used bilateral CI for four years.
Findings:
- While spoken language development scores showed minimal improvement, the patient demonstrated significant enhancements in speech sound discrimination.
- Audibility of spoken language and environmental sounds substantially improved post-implantation.
Implications:
- Cochlear implantation is a viable treatment option for profound SNHL in children with JBS.
- Despite marginal spoken language outcomes, CI can improve auditory perception and environmental sound awareness in JBS patients.
Abstract:
Sensorineural hearing loss (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (JBS). However, limited knowledge exists in medical literature of cochlear implantation (CI) outcomes in children with JBS. We report the case of a 5 year-old male with JBS and bilateral CI. While minimal progress in spoken language scores was noted after 4 years of bilateral CI use, substantial improvements in discrimination of speech sounds and audibility of spoken language and environmental sounds were documented. Cochlear implantation is an available treatment option of profound SNHL in children with JBS even if spoken language outcomes are marginal.
