Hearing about genes
1 May 2015
| Robert J Shprintzen
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ENTA - Audiology - Adult, ENTA - Audiology - Diagnostic, ENTA - ENT, ENTA - Otology, ENTA - Speech and Language Therapy
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
1 May 2015
| Ali A Danesh
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ENTA - Audiology - Adult, ENTA - Audiology - Diagnostic, ENTA - Audiology - Paediatric
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
1 May 2015
| Emma Boswell
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ENTA - Audiology - Adult, ENTA - Audiology - Diagnostic, ENTA - Audiology - Paediatric, ENTA - Genetics, ENTA - Otology
“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
1 May 2015
| Consolación Rosado
|
ENTA - Audiology - Adult, ENTA - Audiology - Diagnostic, ENTA - Audiology - Paediatric, ENTA - Genetics, ENTA - Otology
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...
Screening: evaluating the outcomes of early intervention
Newborn hearing screening is now the accepted standard of care in several countries, and is becoming increasingly more established worldwide. White [1] reported eight countries screening over 90% of newborns, ten screening between 25-89% of births and a further 54...
Utilisation of cortical auditory evoked potentials in the paediatric population
Introduction Early identification of hearing loss in infants followed by prompt intervention is well established as the key to maximising the development of speech, language and psychosocial skills. Many countries have already adopted early hearing detection and intervention (EDHI) programs,...
Dr Marion Pfaender Down
“Dr Marion P Downs, an innovator in the field of paediatric audiology and a tireless advocate for the early identification of hearing loss, passed away on November 13, 2014. During her exemplary career at the University of Colorado Health Sciences...
