Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients

Introduction: Sensorineural hearing loss (SNHL) is the most common birth disorder. The cause of SNHL is heterogeneous and varies in different populations. Understanding the causes of a hearing loss (HL) predict the outcome of cochlear implantation and is of great importance in understanding the mechanism of the disease and in providing the best treatment. Undiagnosed and untreated HL has a profound effect on the acquisition of early communication skills, speech, language, academic, emotional, and psychosocial development in children.

Objectives: To determine the cause of HL and implantation age in pediatric cochlear implant (CI) users in a Danish population.

Methods: Data of 100 children (54 females and 46 males), age 0-17 years, was analyzed. All of the children were implanted during 2020-2022.

Results: Hereditary HL was diagnosed in 44 cases (44%), with pathogenic variants in the SLC26A4 gene found in 14 cases (14%). Syndromic HL was diagnosed in 23 children (23%). Non-syndromic HL was diagnosed in 21 children (21%), where the most common genetic variation was found in the GJB2 gene. Acquired prenatal and postnatal sensory disorders TORCH risk factors were associated with HL in 25 cases (25%). Congenital CMV DNA was diagnosed in 23 samples (23%). The cause of the HL remained unknown for 31 (31%) children. In 70 (70%) of the participants the HL was diagnosed at time of newborn hearing screening (NHS). Twenty-three of the children were diagnosed with congenital severe to profound bilateral HL and were simultaneously implanted between 8 and 14 months (mean age 10.5 months). In the remaining 47 cases, the HL was progressive and the children were implanted when the HL reached the criteria for implantation.

Conclusions: In the current study, the major causes of HL were alterations in the SLC26A4 gene: 13% with Pendred syndrome and 1% non-syndromic. Thirty-one (31%) had HL of unknown origin and almost half of these cases had inner ear malformations (n = 16).