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Hereditary Deafness

By: Christine Choi & Emily Chesnut. Hereditary Deafness. How is it Inherited?. Hereditary Deafness can be caused by both dominant (DFNA#) and recessive (DFNB#) genes. Possible Genotypes?.

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Hereditary Deafness

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  1. By: Christine Choi & Emily Chesnut Hereditary Deafness

  2. How is it Inherited? • Hereditary Deafness can be caused by both dominant (DFNA#) and recessive (DFNB#) genes.

  3. Possible Genotypes? • Parents can have either the nonsyndromic dominant genotype DFNA# or the syndromic recessive DFNB to pass on hereditary deafness to their offspring. As long as one or the other exists, there is a chance of producing a deaf child.

  4. Prevalence in Population? • 2 to 3 of every 1000 children in the U.S. are born deaf or hard of hearing • 9 out of 10 babies born deaf, have parents who can hear • 3 to 6% of deaf children and 3 to 6% of hard or hearing children have usher syndrome • 4 of every 100000 U.S. babies have usher syndrome

  5. Chances of Passing on? • Although this disease can be passed on with either dominant or recessive genotypes it is more likely to cause deafness in many generations to come with the existence of the dominant genotype.

  6. How is it Diagnosed? • Hereditary deafness is diagnosed by ontological, audio logical, and physical examinations • Family history, ancillary testing (CT exam of he temporal lobe) and molecular genetic testing (testing that involves the analysis, sequencing, or several methods of mutation detection.) are also considered and used to diagnose hereditary deafness

  7. Physical Symptoms? • The physical symptoms of this disease can vary from immediate deafness from the beginning of one’s life to a progressive hearing loss throughout the span of one’s lifetime. • The severity of deafness can vary as well but is often enough to affect basic communication ability

  8. Life Expectancy? • People with deafness have the same life span as everyone else. They can live a normal healthy life, they just can't hear as well.

  9. How is it Treated? • There are numerous methods of treatment or assistance to help people with hereditary deafness live a healthy, “normal”, life. • One of them is simply the use a hearing aid to amplify the sound around them. • Another option of treatment is getting a cochlear implant which is a surgical implantation of a device that artificially stimulates the cochlear nerve giving the person a sense of sound.

  10. New Treatments? • Scientists are researching using gene therapy to treat hereditary deafness. • They are also always trying to make newer and better hearing aids.

  11. What is Everyday Life Like? • The two main obstacles that individuals with deafness face is they can’t easily communicate with others and are thus inhibited from developing strong social skills. Sign language allows communication but is only known by few people

  12. What are their Limitations? • Deaf people are only limited in the hearing sense. All other senses are normal. • Communication can be difficult because they have to use sign language and others need to know sign language. They often need some type of assistant to help them.

  13. Organizations? • There are countless organizations across the nation that provide information, resources, and services. • The Hearing, Speech-Language and Learning Center at Beth Israel Medical Center 
http://www.wehealnewyork.org/services/hearing/services/ • The New York Eye and Ear Infirmary, Department of Otolaryngology, Cochlear Implantation 
www.nyee.edu • Alexander Graham Bell Association 
www.agbell.org • American Society for Deaf Children (ASDC) 
www.deafchildren.org

  14. How possible is it that a cure will be found? • It is very possible that a cure will be found. Scientists from the University of Iowa and researchers from Okayama University in Japan have shown a potential method to cure a type of hereditary deafness by stopping the gene that causes the hearing loss. They have tested it and it worked on mice.

  15. Sources • "The Children´s Hearing Institute -- Organizations & Assoc." The Children's Hearing Institute - Hearing Loss, Cochlear Implants. Web. 02 Mar. 2011. <http://www.childrenshearing.org/custom/org_assoc.html>. • "Cochlear Implant." Wikipedia, the Free Encyclopedia. Web. 02 Mar. 2011. <http://en.wikipedia.org/wiki/Cochlear_implants>. • "Hearing Impairment." Wikipedia, the Free Encyclopedia. Web. 02 Mar. 2011. <http://en.wikipedia.org/wiki/Hereditary_deafness>. • Web. 02 Mar. 2011. <http://www.ncbi.nlm.nih.gov/pubmed/12324385>.SourcesWikipediahttp://en.m.wikipedia.org/wiki/Hearing_impairment?wasRedirected=trueNIDCD • http://www.nidcd.nih.gov/health/statistics/hearing.htmlNCBI • http://www.ncbi.nlm.nih.gov/books/NBK1434/ • http://hereditarydeafness.blogspot.com/http://www.4hearingloss.com/archives/2005/08/new_study_shows.html

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