Abstract
Hearing loss is a common disorder and can be conductive, sensorineural or mixed types. It can be congenital or acquired. In pediatric population more than 50% of deafness is genetic in origin. The patients may present as Deaf, mute or hard of hearing. Literature review was carried out on the pathophysiology including genetics, clinical presentation, etiology, diagnosis and various management, using internet Google, search PubMed. Additional information was obtained by cross referencing, using text and journals in the medical libraries.Asian J. Med. Biol. Res. March 2017, 3(1): 10-19
Highlights
Deaf and dumb" or even "dumb‖ is an archaic term that is offensive, especially when referred to deaf people who do not speak
In the pediatric population in US, more than 50% of patients with deafness have a genetic origin. (Morton et al, 2006), with autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns of inheritance .In US less than 5% of deaf children have a deaf parent(Mitchell et al, 2004)
50% of autosomal recessive nonsyndromic hearing loss can be due to the disorder DFNB1 (Arnos, 2003; Smith et al, 2002) on chromosome 13 caused by mutation of GJB2 that encodes the protein connexin 26 and GJB6 that encodes the protein connexin 30 (Nance, 2003)
Summary
Deaf and dumb" or even "dumb‖ is an archaic term that is offensive, especially when referred to deaf people who do not speak. Most of the non-syndromic recessive gene mutations produce congenital profound deafness, of more than 90 dB hearing loss.
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