ATP8B1 is essential for maintaining normal hearing.

ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1). ATP8B1 deficiency is primarily characterized by cholestasis, but extrahepatic symptoms are also found. Because patients sometimes report reduced hearing capability, we investigated the role of ATP8B1 in auditory function.

Audiological performance after cochlear implantation: a 2-year follow-up in children with inner ear malformations.

Conclusions: Open-set speech perception in children with an inner ear malformation is equal to that of other congenitally deaf children after an average of 2 years follow-up.

Objective: To analyze audiological performance after cochlear implantation in a sample of children with radiographically detectable malformations of the inner ear compared to performance in prelingually deafened children at large.

Materials And Methods: Nine children with osseous inner ear malformations were compared to 22 congenitally deaf children, all of whom underwent cochlear implantation.

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse.

Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II). We discovered quite unexpectedly 30-90 dB hearing loss in four infants with Pompe's disease, who participated in a study on the safety and efficacy of enzyme replacement therapy. Three other patients with juvenile Pompe's disease did not have this symptom.

Newborn hearing screening: tobramycin and vancomycin are not risk factors for hearing loss.

Objective: To investigate the chance of detecting hearing loss with neonatal hearing screening in relation to exposure to tobramycin and vancomycin.

Study Design: Automated auditory brainstem response (A-ABR) hearing screening was performed in all neonates with at least one risk factor. Data on drug administration were abstracted from patient files.