PU¶PubMed·Journal article·Research (general)·33y agoOTOF -Related Hearing LossAudiologists should recognise the OTOF/otoferlin auditory synaptopathy profile — normal OAEs with absent/abnormal ABR — as a distinct entity guiding genetic referral and cochlear implant candidacy evaluation; no change to standard CI protocols is required pending emerging...
PU¶PubMed·Journal article·Clinical audiology·33y agoBeta-MannosidosisAudiologists evaluating children with unexplained sensorineural hearing loss (damage to the inner ear or hearing nerve) and developmental or speech delay should be aware of Beta-Mannosidosis as a rare differential diagnosis warranting metabolic genetics referral.＋Save
PU¶PubMed·Journal article·Research (general)·33y agoGeneralized Arterial Calcification of InfancyAwareness of rare vascular genetic conditions like GACI is marginally relevant to audiologists only insofar as undiagnosed vascular pathology could contribute to unexplained sensorineural hearing loss in paediatric patients.＋Save
