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Usher Syndrome

Modified for American Sign Language Class
by

Lindsey Steel

on 5 April 2016

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Transcript of Usher Syndrome

Usher Syndrome
First off....
No, this is not what your thinking.
Usher Syndrome is not an over obssesion with Usher.
It is a real syndrome that involves problems with a person's hearing and vision- now it should be more clear. As great as Usher is, Usher
syndrome
isn't so great.
Usher Syndrome:
The photograph of the retina on the left is of someone with Usher syndrome. The photograph on the right is a normal retina. The optic nerve looks very pale (left), the vessels are thinner than normal and there is 'characteristic pigment', called
bone spicules
.
http://www.ushersyndrome.nih.gov/whatis/
There are three clinical types...
They are separated by the severity and age when you start to get the signs of the syndrome.
Type 1: There are 7 subtypes. IA, IB, IC, ID, IE, IF, IG. This is the most severe type of Usher Syndrome. Someone with Usher Syndrome is typically born completely deaf or loses a majority of their hearing while they are 1. When you are a child your sight becomes progressively worse. This is caused by 'retinitis pigmentosa'. Your ear affects multiple things in this circumstance. One being your hearing, and another being your balance.
Type 2: There are 3 subtypes. IIA, IIB, and IIC.
Someone with Usher Syndrome is born deaf. Their sight
can start to go when they are very young or when they
are an adult. They have trouble hearing higher pitched
sounds. words, and letters, like "d" and "t". The severity
of their condition depends on their family members who
have it too, and how severe theirs was. Type 2 is the only
type of Usher syndrome without loss of balance.
Type 3: The patients of this type of Usher syndrome are born with normal hearing, but also have 'retinitis pigmentosa', which is vision loss they get in middle childhood. Someone with Usher Syndrome begins losing hearing while they are a child. In their 20's or 30's, they begin to lose hearing and vision. When they are in their 40's-50's they are almost completely deaf. They are also affected by their inner ear in balance.
(Usher)
PICTURES!
Pedigree Chart
Diagram
Common Questions....
Q:
Is there a cure???
A:
So far there isn't a cure. But there are ways to
help people who are going to have Usher syndrome.
Yes. Such as, Cochlear implants, learning
Sign Language, mobility training, hearing aids, etc.
Some say that having a high dose of vitamin A palmitate might help
push away the time you would get the syndrome, but not stop it.
Q:
Are there ways to help people who have it?
A:
Q:
How do you get Usher Syndrome?
A:
It is an autosomal recessive, which means that the chromosome isn't on either sex chromosomes, a.k.a, males and females can be carriers. So if each of your parents is a carrier, so they both have an autosomal recessive trait, along with a
normal sex chromosome, then their children will have a 1 in 4 chance of having it.
So you have a 1 in 4 chance of having the syndrome IF, your parents are both carriers.
Q:
How do you know if you have Usher Syndrome?
A:
A few signs of losing sight:
hard to see things when in the dark or in dim light
clumsy accidents (Ex. running into people)
sitting to close to the TV (NOT a sign of deafness)
hard time keeping balance
holding things up to their face closely so they can see it better
Also, if you think you have Usher Syndrome, get tested for it immediately so you can plan ahead and try to make things easier on yourself.

I hope you know more about the Usher Syndrome now, and if you see any clear signs be sure to contact a doctor immediately
.
have a great day :D
Thank you!
Q:
How is usher syndrome diagnosed?
A:
Because the syndrome affects hearing balance and vision the diagnosis evaluation includes all these senses. The evaluation may include a visual field test to measure a person's peripheral vision. The hearing test measures how loud sounds at ranges. Early diagnosis is important, the earlier someone or a parent knows that their child or they have Usher Syndrome the sooner they can begin special education training programs.
Basic Info....
Usher Syndrom is autosomal recessive!
It is on chromosome 11!
usher
syndrome
It effects about 50,000 people in the U.S!
Effects are hearing loss and vision disorder called retinitis pigmentosa (RP)!
Ashkenazi Jews are most prone to type 1!
(a.k.a Deaf-Blindness)
Fun Facts:
Kentucky Derby winner and close to be triple-crown winner Kent Desormeaux's second son had US and got a lot of media attention for it!
Most common condition that involves hearing and vision problems!
(not X-linked)
Usher Syndrome Home Page. Web. 24 Jan. 2012. <http://www.ushersyndrome.nih.gov/>.

"Usher Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 24 Jan. 2012. <http://ghr.nlm.nih.gov/condition/usher-syndrome>.
"The Usher Syndrome Page." A-Z to Deafblindness. Web. 02 Feb. 2012. <http://www.deafblind.com/usher.html>.

"Usher Syndrome." National Institute on Deafness and Other Communication Disorders [NIDCD]. Web. 24 Jan. 2012. <http://www.nidcd.nih.gov/health/hearing/pages/usher.aspx>.

"Facts About Usher Syndrome [NEI Health Information]." National Eye Institute [NEI], of the U.S. National Institutes of Health. Web. 24 Jan. 2012. <http://www.nei.nih.gov/health/ushers/ushers.asp>.


Usher Syndrome." Home - Boys Town National Research Hospital. Web. 02 Feb. 2012. <http://www.boystownhospital.org/research/molecularstudies/Pages/UsherSyndrome.aspx>.
Bibliography!
Usher Syndrome Home Page. Web. 24 Jan. 2012. <http://www.ushersyndrome.nih.gov/>.

"Usher Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 24 Jan. 2012. <http://ghr.nlm.nih.gov/condition/usher-syndrome>.
"The Usher Syndrome Page." A-Z to Deafblindness. Web. 02 Feb. 2012. <http://www.deafblind.com/usher.html>.

"Usher Syndrome." National Institute on Deafness and Other Communication Disorders [NIDCD]. Web. 24 Jan. 2012. <http://www.nidcd.nih.gov/health/hearing/pages/usher.aspx>.

"Facts About Usher Syndrome [NEI Health Information]." National Eye Institute [NEI], of the U.S. National Institutes of Health. Web. 24 Jan. 2012. <http://www.nei.nih.gov/health/ushers/ushers.asp>.


Usher Syndrome." Home - Boys Town National Research Hospital. Web. 02 Feb. 2012. <http://www.boystownhospital.org/research/molecularstudies/Pages/UsherSyndrome.aspx>.
Bibliography!
ASL Definition
Living With Usher's Syndrome
Full transcript