Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome

Brookes, James T.; Kanis, Adam B.; Tan, Lih Yeen; Tranebjærg, Lisbeth; Vore, Abram; Smith, Richard J.H.

doi:10.1016/j.ijporl.2007.08.019

Cited by 33 publications

(21 citation statements)

References 32 publications

(40 reference statements)

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“…In practice, however, the presence of a functional neural substrate does not necessarily indicate its utility for processing complex auditory stimuli. In addition, postsynaptic causes of ANSD produce highly variable outcomes, so the presence of a CAP may not be a universally positive sign [12, 15, 42–44]. …”

Section: Discussionmentioning

confidence: 99%

Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder

Fontenot

Giardina

Teagle

et al. 2017

International Journal of Pediatric Otorhinolaryngology

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OBJECTIVES To assess electrocochleography (ECochG) to tones as an instrument to account for CI speech perception outcomes in children with auditory neuropathy spectrum disorder (ANSD). MATERIALS & METHODS Children (<18 years) receiving CIs for ANSD (n=30) and non-ANSD (n=74) etiologies of hearing loss were evaluated with ECochG using tone bursts (0.25–4 kHz). The total response (TR) is the sum of spectral peaks of responses across frequencies. The compound action potential (CAP) and the auditory nerve neurophonic (ANN) in ECochG waveforms were used to estimate nerve activity and calculate nerve score. Performance on open-set monosyllabic word tests was the outcome measure. Standard statistical methods were applied. RESULTS On average, TR was larger in ANSD than in non-ANSD subjects. Most ANSD (73.3%) and non-ANSD (87.8%) subjects achieved open-set speech perception; TR accounted for 33% and 20% of variability in the outcomes, respectively. In the ANSD group, the PTA accounted for 69.3% of the variability, but there was no relationship with outcomes in the non-ANSD group. In both populations, nerve score was sensitive in identifying subjects at risk for not acquiring open-set speech perception, while the CAP and the ANN were more specific. CONCLUSION In both subject groups, the TRs correlated with outcomes but these measures were notably larger in the ANSD group. There was also strong correlation between PTA and speech perception outcome in ANSD group. In both subject populations, weaker evidence of neural activity was related to failure to achieve open-set speech perception.

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Section: Discussionmentioning

confidence: 99%

Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder

Fontenot

Giardina

Teagle

et al. 2017

International Journal of Pediatric Otorhinolaryngology

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“…In AN, cochlear implants benefit patients with OTOF mutations affecting pre-synaptic release of neurotransmitter from inner hair cell ribbon synapses (Rodriquez-Ballesteros et al, 2003). In contrast, cochlear implants are of minimal benefit (Miyamoto et al, 1999;Brookes et al, 2008) in AN due to genetic disorders causing degeneration of auditory ganglion cells and auditory nerve fibers. In the two subjects with OPA1 mutations presumed to affect the function of terminal dendrites of auditory nerve, the benefits of cochlear implants were excellent.…”

Section: Discussionmentioning

confidence: 99%

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

2009

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Autosomal dominant optic atrophy (DOA) is a retinal neuronal degenerative disease characterized by a progressive bilateral visual loss. We report on two affected members of a family with dominantly inherited neuropathy of both optic and auditory nerves expressed by impaired visual acuity, moderate pure tone hearing loss, and marked loss of speech perception. We investigated cochlear abnormalities accompanying the hearing loss and the effects of cochlear implantation. We sequenced OPA1 gene and recorded cochlear receptor and neural potentials before cochlear implantation. Genetic analysis identified R445H mutation in OPA1 gene. Audiological studies showed preserved cochlear receptor outer hair cell activities (otoacoustic emissions) and absent or abnormally delayed auditory brainstem responses (ABRs). Trans-tympanic electrocochleography (ECochG) showed prolonged low amplitude negative potentials without auditory nerve compound action potentials. The latency of onset of the cochlear potentials was within the normal range found for inner hair cell summating receptor potentials. The duration of the negative potential was reduced to normal during rapid stimulation consistent with adaptation of neural sources generating prolonged cochlear potentials. Both subjects had cochlear implants placed with restoration of hearing thresholds, speech perception, and synchronous activity in auditory brainstem pathways. The results suggest that deafness accompanying this OPA1 mutation is due to altered function of terminal unmyelinated portions of auditory nerve. Electrical stimulation of the cochlea activated proximal myelinated portions of auditory nerve to restore hearing

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“…MTS or deafness-dystonia-optic neuropathy syndrome is characterized by a pre-or postlingual AN, dystonias that develop in adolescence, optic atrophy leading to cortical blindness beginning at the end of the second decade, with cognitive and psychiatric disturbances (dementia and paranoia) occurring in the fourth decade of life [Brookes et al, 2008;Tranebjaerg, 2009;Tranebjaerg et al, 2001].…”

Section: Mohr-tranebjaerg Syndromementioning

confidence: 99%

The Mitochondrial Connection in Auditory Neuropathy

Cacace

Pinheiro

2011

Audiol Neurotol

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‘Auditory neuropathy’ (AN), the term used to codify a primary degeneration of the auditory nerve, can be linked directly or indirectly to mitochondrial dysfunction. These observations are based on the expression of AN in known mitochondrial-based neurological diseases (Friedreich’s ataxia, Mohr-Tranebjærg syndrome), in conditions where defects in axonal transport, protein trafficking, and fusion processes perturb and/or disrupt mitochondrial dynamics (Charcot-Marie-Tooth disease, autosomal dominant optic atrophy), in a common neonatal condition known to be toxic to mitochondria (hyperbilirubinemia), and where respiratory chain deficiencies produce reductions in oxidative phosphorylation that adversely affect peripheral auditory mechanisms. This body of evidence is solidified by data derived from temporal bone and genetic studies, biochemical, molecular biologic, behavioral, electroacoustic, and electrophysiological investigations.

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Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome

Cited by 33 publications

References 32 publications

Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder

Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

The Mitochondrial Connection in Auditory Neuropathy

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