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Published on: October 11, 2024
Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic
Pei-Hsuan Lin1,2,3, Hung-Pin Wu4, Che-Ming Wu5,6
1Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei 10002, Taiwan.
Insights
Identifying the cause of auditory neuropathy spectrum disorder (ANSD) in children is key to predicting cochlear implant (CI) success. Certain genetic causes show better outcomes than cochlear nerve deficiency.
Area of Science:
- Pediatric Otolaryngology
- Neuroscience
- Genetics
Background:
- Auditory Neuropathy Spectrum Disorder (ANSD) in children presents diverse challenges in management and variable cochlear implant (CI) outcomes.
- Understanding the etiological basis of ANSD is crucial for predicting the success of auditory rehabilitation.
Purpose of the Study:
- To investigate cochlear implant (CI) outcomes in pediatric patients with Auditory Neuropathy Spectrum Disorder (ANSD) based on different underlying etiologies.
- To correlate specific genetic and anatomical causes of ANSD with post-CI auditory performance metrics.
Main Methods:
- Retrospective analysis of 36 pediatric ANSD patients who received cochlear implants (2001-2021).
- Comprehensive etiological assessment including genetic testing (next-generation sequencing) and imaging (HRCT, MRI).
- Evaluation of CI outcomes using Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores.
Main Results:
- Patients with OTOF-related ANSD showed favorable outcomes (CAP/SIR: 5-7/2-5), as did those with WFS1 (6/5) and OPA1 (7/5) variants.
- Cochlear nerve deficiency (CND)-related ANSD resulted in significantly poorer CI outcomes (CAP/SIR: 2-6/1-3) compared to OTOF-related ANSD.
- Average CI-aided behavioral threshold was 28.3 ± 7.8 dBHL, with CND patients having worse thresholds.
Conclusions:
- Etiological identification in pediatric ANSD is critical for predicting cochlear implant (CI) prognosis.
- Specific genetic etiologies like OTOF, WFS1, and OPA1 variants are associated with better CI outcomes.
- Cochlear nerve deficiency presents a significant challenge for successful cochlear implantation in ANSD patients.
Abstract:
With diverse etiologies and clinical features, the management of pediatric auditory neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear implants (CIs) are variable. This study aimed to investigate CI outcomes in pediatric patients with ANSD of different etiologies. Thirty-six children with ANSD who underwent cochlear implantation between 2001 and 2021 were included. Comprehensive etiological analyses were conducted, including a history review, next-generation sequencing-based genetic examinations, and imaging studies using high-resolution computed tomography and magnetic resonance imaging. Serial behavioral and speech audiometry were performed before and after surgery, and the outcomes with CI were evaluated using the Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. By etiology, 18, 1, 1, and 10 patients had OTOF-related, WFS1-related, OPA1-related, and cochlear nerve deficiency (CND)-related ANSD, respectively. Six patients had no definite etiology. The average CI-aided behavioral threshold was 28.3 ± 7.8 dBHL, and those with CND-related ANSD were significantly worse than OTOF-related ANSD. The patients' median CAP and SIR scores were 6 and 4, respectively. Favorable CI outcomes were observed in patients with certain etiologies of ANSD, particularly those with OTOF (CAP/SIR scores 5-7/2-5), WFS1 (CAP/SIR score 6/5), and OPA1 variants (CAP/SIR score 7/5). Patients with CND had suboptimal CI outcomes (CAP/SIR scores 2-6/1-3). Identifying the etiologies in ANSD patients is crucial before surgery and can aid in predicting prognoses.
