Audiology features archive for May 2015
Hearing about genes
I have been fortunate in my career to travel as an invited lecturer at many hospitals, universities and professional societies around the world. I have spoken to audiology societies, otolaryngology societies, and university communication disorders programmes in Europe, Asia, Africa,...
Scientific advances in mapping syndromic hearing loss
From more than 22000 genes that we humans have, approximately 3000 genes are associated with human communication. There are tens of syndromes which have been identified to be accompanied by hearing loss. Disorders of almost every organ of the body...
Living with Usher syndrome
“Usher people often still have sharp, clear central vision. It is the corner of their eye that is missing. This is why the Usher person often does not feel or look blind. In the early days they may not even...
Hearing loss and Alport syndrome
Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...
The impact of hearing loss in children with Down syndrome
Hearing loss and language development Down syndrome (DS) usually arises due to trisomy 21 and is associated with intellectual disability and risks of developmental delays and difficulties, including hearing loss. Hearing loss is common in children with DS [1]. In...
Branchio Oto Renal syndrome
Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...
