Childhood fever and hearing loss associated with CAPOS syndrome.

CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is a rare genetic disorder caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. CAPOS syndrome involves a characteristic episode in which neuropathy develops after a fever in childhood, and here, we describe the case of a patient with CAPOS syndrome. The patient had repeated episodes of a fever around 74 months of age. Although he could speak at 23 months of age, he presented with hearing difficulty after the fever. Pure-tone audiometry revealed moderate-to-severe bilateral sensorineural hearing loss, and auditory brainstem response (ABR) showed poor response in the both ears. Auditory stead-state response (ASSR) produced relatively consistent results compared to pure-tone audiometry. A mutation in the ATP1A3 gene was detected through genetic testing. In CAPOS syndrome, a genetic mutation leads to desynchronization during neural firing. We believe that this desynchronization in neural firing is responsible for the lack of response in the ABR and the presence of a response in the ASSR. In this patient, we attribute the response detection in ASSR to its greater tolerance for errors in the timing of neural firing compared to ABR.

Central processing of speech sounds and non-speech sounds with similar spectral distribution: An auditory evoked potential study.

OBJECTIVE: The purpose of this study was to measure the auditory evoked potentials for speech and non-speech sounds with similar spectral distributions. METHODS: We developed two types of sounds, comprising naturally spoken vowels (natural speech sounds) and complex synthesized sounds (synthesized sounds). Natural speech sounds consisted of 5 Japanese vowels. Synthesized sounds consisted of a fundamental frequency and its second to fifteenth harmonics equivalent to those of natural speech sounds. The synthesized sound was filtered to have a similar spectral distribution to that of each natural speech sound. These sounds were low-pass filtered at 2000 Hz. The auditory evoked potential elicited by the natural speech sound /o/ and synthesized counterpart for /o/ were measured in 10 right-handed healthy adults with normal hearing. RESULTS: The natural speech sounds were significantly highly recognized as speech compared to the synthesized sounds (74.4% v.s. 13.8%, p < 0.01). The natural speech and synthesized sounds for the vowel /o/ contrasted strongly for speech perception (96.9% vs. 9.4%, p <0.01). However, the vowel /i/ and its counterpart were barely recognized as speech (4.7 v.s. 3.1%, p = 1.00). The N1 peak amplitudes and latencies evoked by the natural speech sound /o/ were not different from those evoked by the synthesized sound (p = 0.58 and p = 0.28, respectively). The P2 amplitudes evoked by the natural speech sound /o/ were not different from those evoked by the synthesized sound (p = 0.51). The P2 latencies evoked by the natural speech sound /o/ were significantly shorter than those evoked by the synthesized sound (p < 0.01). This modulation was not observed in a control study using the vowel /i/ and its counterpart (p = 0.29). CONCLUSION: The early P2 observed may reflect central auditory processing of the 'speechness' of complex sounds.

Cochlear implant function in a patient with Jervell and Lange-Nielsen syndrome after defibrillation by countershock.

Jervell and Lange-Nielsen syndrome (JLNS), a rare autosomal recessive congenital QT prolongation syndrome, is characterized by cardiac arrhythmias, syncopal episodes, and profound deafness. A cochlear implant (CI) for patients with JLNS is expected to result in hearing improvement. Sometimes, defibrillation is required if a patient experiences lethal arrhythmia. In this paper, we report a pediatric patient with JLNS who received defibrillation after CI surgery in his right ear at the age of 2 years. With intensive care, the post-operative course was uneventful, and the patient acquired satisfactory speech and hearing abilities. Five years after the surgery, he underwent defibrillation because of the incidence of syncopal attack. Thereafter, arrhythmic syncope recurred three times, which necessitated defibrillation therapy. To prevent recurrence of cardiac arrhythmia, he underwent ICD (implantable cardioverter-defibrillator) implantation at the age of 11 years. At present, CI works well and provides good hearing, while syncopal attack is prevented by ICD. From the experience of this case, electronic circuit of CI is thought to tolerate emergency countershock if the speech processor is removed.