ushers syndrome 2016
TRANSCRIPT
Usher Syndrome
Tyshon Marthone Kaylin Butler
02/17/2016
Overview • Described as a (heredity condition) that
affects the functions your hearing and vision capabilities. Or better described as hearing loss and impaired vision.
• Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity and the age when signs and symptoms appear.
Symptoms and Conditions
• Night blindness• Hearing loss• Deafness• Balance problems
Quick Game
Read the following Statement:
How much wood could a woodchuck chuckIf a woodchuck could chuck wood?
……..pretty easy to read with your near perfect vision, but…
Now can anyone try reading the following statement:
Now can anyone try reading the following statement:
Answer:How much wood could a wooden truck carry? If a wooden truck could carry wood?
…Not so easy it?
Back to the lesson…
How can you contract the syndrome?
• The usher syndrome can be received through inheritance which means by genetics its contracted.
• As you know, genetics are located almost everywhere in the body, genes have the instructions of what it wants the cells to do.
DiagnosingFinding out if your child or yourself have the
symptoms of the usher syndrome have early test evaluations which include Four tests:
• Visual field test and rental examination • Electroretinogram• Audio logic evaluation• Electronystagmogram
Going for an early diagnosis is important because early discovery can lead to early treatment and access to special programs to manage and adjust to the loss of hearing and vision.
CharacteristicsSince the usher syndrome is a heredity condition that is caused by an autosomal, it is known to be inherited by recessive traits.It is passed from parents to children and caused by the changes in genes or mutations.
Since this is an autosomal recessive disorder;
• Both the female and male can be affected• Both parent could carry a mutated gene but not be
affected by the usher syndrome themselves • A child has 50/50 chance of inheriting either the
mutated gene or a normal gene from each parent.• The chance that a child will receive the usher gene
syndrome is 1 in 4.
Different types of conditions
Doctors have discovered three types of stages of the usher syndrome which have been labeled as type I, II and III.
Type 1People with type I - Inherit severe balance problems- Sit without support later than most (6-9 months)- Late walkers (18-24 months)
cont.Type 2
People with Type 2- Moderate to severe hearing loss- Normal balance- Can prescribe to hearing aids - Develop night blindness in late teen years- Doesn’t suffer from total blindness
cont.Type 3
People with Type 3:- Normal hearing at birth- Almost normal balance- Gradual loss of vision, balance, and hearing as you age.
CausesWhat causes the loss in vision?
The mutation gene affects the light sensing cells as well as the cones and rods which start to slowly go bad and eventually get worse to the point to the loss of peripheral view.
What causes the loss in hearing?
The mutation gene affects the cochlea (spiral structure located in the inner ear that transmit sound) of the nerve cells to where doesn’t transmit normally
Discovery of the Usher syndrome
Charles Howard Usher (March 2 1865-March 3, 1942)
A Scottish ophthalmologist from Edinburgh, he studied medicine at Thomas hospital in London where he received a doctorate. He also was an eye surgeon for a children’s hospital and infirmary
Charles Howard Usher is famously known for discovering the usher syndrome which he announced his discovery in the year of 1914 to which he also called his discovery “inheritance of retinitis pigmentosa”.
He hypothesized his findings on surveys of 69 individuals who suffered from deafness and visual problems. And demonstrated that the disease was inherited from parents passing the conditions to their children.
Treatments? Cures? Prognosis?
Sadly, there is no cure but there are special programs developed to fit the needs of the individuals and families who need it.
Any Questions?
References1. How to Perform a Multifocal Electroretinogram [Video file].
(n.d.). Retrieved from https://www.youtube.com/watch?v=dvWvywkV2G8
2. The Human Eye [Video file]. (n.d.). Retrieved from https://www.youtube.com/watch?v=nbwPPcwknPU
3. Lachlan's first hearing aids aged 7 weeks old. Our gorgeous baby boy [Video file]. (n.d.). Retrieved from https://www.youtube.com/watch?v=UUP02yTKWWo
4. THE HUMAN EAR [Video file]. (n.d.). Retrieved from https://www.youtube.com/watch?v=C6ZQUmBg1eU
5. Two Blind Sisters See for the First Time [Video file]. (n.d.). Retrieved from https://www.youtube.com/watch?v=EltIpB4EtYU
6. Usher Syndrome, Conner & Dalton McKittrick, Hear See Hope [Video file]. (n.d.). Retrieved from https://www.youtube.com/watch?v=lezbpBvLbrU
7. http://www.nidcd.nih.gov/health/hearing/pages/usher.aspx#e8. http://ghr.nlm.nih.gov/condition/usher-syndrome#genes9. https://my.clevelandclinic.org/health/diseases_conditions/
hic_Usher_Syndrome10. http://www.webmd.com/eye-health/night-blindness