Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emis...

Hyperbilirubinemia at neonatal period is one of the major deteriorating factors of the auditory system. If left untreated, it may cause certain cerebral damage. This study aims to evaluate the impact of hyperbilirubinemia on the hearing of neonate. This study was conducted on 35 newborn babies with jaundice (bilirubin more than 20 mg/dL). Auditory brainstem response (ABR) and transient evoked o...

Auditory neuropathy spectrum disorder (ANSD) is a condition of multifactorial origin in which transmission of sound to the brain is abnormal. Children who suffer from this condition experience difficulties with speech perception, especially in noise, and the development of language skills. This study is intended to determine the prevalence and audiological profile of auditory neuropathy spectru...

OBJECTIVE To evaluate the prevalence of misdiagnosis of the hearing impaired children, in order to investigate the existence of Auditory Neuropathy Spectrum Disorder. METHODS Analytical, prospective study conducted with 15 participants (30 ears) aged 10-12 years, with bilateral sensorineural hearing loss, attending a Hearing Rehabilitation Center, accompanied by a multidisciplinary team with ...

Auditory neuropathy is a form of hearing loss in which cochlear inner hair cells fail to correctly encode or transmit acoustic information to the brain. Few genes have been implicated in the adult-onset form of this disease. Here we show that mice lacking the transcription factor Foxo3 have adult onset hearing loss with the hallmark characteristics of auditory neuropathy, namely, elevated audit...