Comparative analysis of audiological parameters in children with auditory neuropathy spectrum disorders of various etiologies

Aim. To conduct a comparative analysis of the audiological profile of patients to develop criteria for the early diagnosis of ANSD.

Materials and methods. A total of 21 children with hearing impairment (mean age 6.25 ± 4.15 years) were examined. All patients underwent clinical, audiological, and molecular genetic testing. Based on the genetic testing results, the patients were divided into two groups: Group 1 (12 children) – with genetically determined forms of ANSD, and Group 2 (9 children) – with other etiological factors.

Results and discussion. According to the molecular genetic testing results, nucleotide sequence variants were identified in the genes OTOF (24%), CDH23, TMC1, COL11A1, PRPS1, and HOMER2 in 12 (57%) children with ANSD; eight of these variants were previously unreported. All patients with OTOF-associated ANSD exhibited present transient evoked otoacoustic emissions (TEOAEs), unlike the other groups. Statistically significant differences were found in otoacoustic emission parameters and the discrepancy between audiometry and ASSR test results among the ANSD groups. In our study, parents of children with genetically caused hearing loss reported a higher quality of life than parents of patients with ANSD of other etiologies.

Conclusions. Despite the genetic heterogeneity of ANSD, pathogenic variants in the OTOF gene played a leading etiological role. The presence of TEOAE is a specific marker for OTOF-mediated ANSD. The study results confirm that the implementation of an integrated molecular-genetic and audiological diagnostic workup is a necessary condition for the verification of ANSD subtypes and the development of personalized rehabilitation measures tailored to the disease etiology.

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