Cochlear Implantation in a Case of Auditory Neuropathy Spectrum Disorder with CAPOS Syndrome

Abstract

Auditory neuropathy spectrum disorder (ANSD) is a hearing disorder which characterized with normal outer hair cell function but disrupted neural synchrony in the afferent auditory pathway. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome can manifest itself with ANSD and this rare situation and audiological rehabilitation outcomes have not well documented in the literature. We aim to present a cochlear implant user subject with CAPOS syndrome and ANSD. A 14-year-old girl diagnosed with ANSD and CAPOS syndrome. She received unilateral cochlear implant (CI). Her hearing sensitivity and speech perception abilities have been improved with CI. Also, she has a good music perception ability measured with the Turkish version of Clinical Assessment of Music Perception Test. After detailed audiological evaluations, CI could be a good option for patients who have ANSD and CAPOS syndrome.

Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis

“…CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) with acquired hearing impairment as a prominent feature 44 , is a rare neurological disorder associated with mutation in the ATP1A3 gene. Han et al 45 and Atilgan et al 46 described the remarkable benefits of cochlear implantation, assuming synaptophysin as the hearing loss pathogenesis.…”

“…CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) with acquired hearing impairment as a prominent feature 44 , is a rare neurological disorder associated with mutation in the ATP1A3 gene. Han et al 45 and Atilgan et al 46 described the remarkable benefits of cochlear implantation, assuming synaptophysin as the hearing loss pathogenesis. Brown Vialetto Syndrome is a neurodegenerative disorder characterised by hearing loss and ponto-bulbar palsy due to mutations in the genes encoding the riboflavin transporters, and vitamin supplements can thus be useful.…”

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

“…Tranebjaerg et al (Fang et al, 2019) stated that four CAPOS patients received CI, two of whom gained significant benefits and the other two was relatively poor. In contrast, Atilgan et al (2019) documented a much more beneficial effect of CI in a patient with CAPOS syndrome as compared to patients with SNHL. These findings could be explained by the fact that the ATP1A3 gene is expressed not only in synapse but also in postsynaptic spiral ganglion cells (SGNs).…”

“…In fact, in most postsynaptic AN, CI has a dubious outcome (Supplementary Table 2). An example is CI in the SGNs (Fasquelle et al, 2011;Eppsteiner et al, 2012;Atilgan et al, 2019). CI performed earlier in TMPRSS3 generated a preferable outcome, while the outcomes in later implantees were not as favorable (Chung et al, 2014).…”

Assessment of music experience after cochlear implantation: A review of current tools and their utilization

“…The CAMP has been utilized in a wide variety of settings by different research groups, including pediatric, hybrid CI, Australian, Turkish and Korean populations. 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 Notably, it has also been shown to have clinical feasibility in a large multicenter study involving 14 institutions and has been reported twice in longitudinal follow-up of patients after cochlear implantation. 43 , 44 , 45 …”