Texas School for the Blind & Visually Impaired Outreach Department
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Transcript of Texas School for the Blind & Visually Impaired Outreach Department
Texas School for the Blind & Texas School for the Blind & Visually Impaired Outreach Visually Impaired Outreach
DepartmentDepartment
Presents TETN # 30,238
Usher Syndrome: An Overview
Events in February . . .
February 1-2February 1-2ndnd - Mentor - Mentor Training at TSBVI Training at TSBVI
February 13February 13thth - TETN O&M - TETN O&M for Babies Who Are Non-for Babies Who Are Non-MobileMobile
February 15-16February 15-16thth – VI Touch – VI Touch Workshop with Barbara MilesWorkshop with Barbara Miles
February 18-19February 18-19thth – Intervener – Intervener Statewide Workshop in Statewide Workshop in AustinAustin
February 24-26February 24-26thth – Mentor – Mentor Center at TSBVICenter at TSBVI
Don’t Forget to Fax to 512-206-9320
Sign-in Sheets Include evaluations Print e-mail addresses
clearly if you want to receive your SBEC certificate
ACVREP Credit
ACVREP approval pending. Certificates will be sent once approval has been received.
ACVREP CEU Certificate Request Form (original broadcast date only) located on TSBVI website at www.tsbvi.edu/Outreach/ACVREPcert_request.htm
Usher Syndrome: An Overview
Presented by
Kate Moss, Statewide Staff Development Coordinator
Edgenie Bellah, Family Specialist
TSBVI Outreach
With Special Guest, Linda Carter
What is Usher Syndrome?
Hereditary Syndrome Hearing loss Progressive vision loss as a
result of Retinitis Pigmentosa (RP)
Combined vision and hearing loss (deafblindness)
What is Retinitis Pigmentosa?
Progressive vision loss Rods of the retina (responsible
for night vision) impacted first In some cases early cone
degeneration in macula leads to central loss
In most cases loss in the peripheral fields making donut shape and progresses to tunnel vision measured in degrees (10 degree fields)
Usually results in total vision loss
Example of Tunnel Vision
Three Types of US – Usher I
Hearing Loss
Balance Vision Loss From RP
Gene Location
Born deaf with profound hearing loss and have a corner audiogram with responses only to very loud low tones.
Absent inner ear balance
Night blindness in infancy or early childhood. Blind spots by late childhood or teens. Legally blind by early adulthood.
1A: Long arm of 141B: Long arm of 11 (most common)1C: Short arm of 11 mostly of Acadian descent fromLouisiana1D: Long arm of 101E: Long arm of 211F: Long arm of 10
1G: Long Arm of 17
Three Types of US – Usher II
Hearing Loss
Balance Vision Loss From RP
Gene Location
Born hard of hearing with a sloping sensori-neural loss from mild loss in the low frequencies to severe/ profound loss in high frequencies.
Normal inner ear balance
Night blindness in childhood or teens. Blind spots by late teens or early adulthood. Legally blind by early to mid adulthood.
2a: Long arm of 12b: Short arm of 32c: Long arm of 5
Three Types of US – Usher III
Hearing Loss
Balance Vision Loss From RP
Gene Location
Onset of hearing loss 0-40 yrs. Progresses rapidly (often over 10-15 yrs.) to profound deafness. Ski-slope audiogram with speed bump.
Probably progressive balance problems
Similar to Type 2. Night blindness in infancy or early childhood. Blind spots by late childhood or teens. Legally blind by early adulthood.
3: Long arm of 3
Statistics on occurrence
3-6% congenitally deaf or hard of hearing
50% of all cases of deafblindness; leading cause of combined vision & hearing loss in USA
Type 1 - 90% of all Usher (most common)
Type 2 - 10% of all Usher
Type 3 – seems to account for about 40% of Usher in eastern Finland;
How is it diagnosed?
Ophthalmological exam that includes field testing as well as acuity testing
Boys Town Research Hospital
Dr. William Kimberling, Center for the Study & Treatment of Usher SyndromeBoys Town National Research Hospital – Omaha
Phone – 402.498.6713email -
Hereditary Pattern
Autosomal recessive gene: both parents must pass gene for condition to occur
Each pregnancy 1 in 4 chance of US and 2 in 4 chance unaffected carrier
What treatment is available? Gene therapy – preclinical
settings Nutritional therapy - vitamin A
palmitate in some RP and US 2. Docosahexaenoic acid (DHA)— can enhance effect of vitamin A. www.blindness.org
A Phase II/lll human clinical trial underway to test encapsulated cell technology (ECT) for delivery of a vision-preserving, therapeutic agent CNTF to retina.
Artificial retinal implants and transplants
Educational Issues
Nightblindness (dark to light & light to dark transitions inside and outside)
Restricted fields (loss of peripheral information for communication, travel & social interactions)
Possible acuity problems (need for glasses, LP, issues with seating)
Glare sensitivity (need for sunglasses, hats, problems with overheads)
Need for high contrast (travel and print)
Educational Issues
Functional Vision Assessment or Evaluation (FVE)
Learning Media Assessment (LMA
Communication – Part B Orientation & Mobility
Assessment
Tool for assessment
Use for completing the FVE, LMA and Communication Part-B assessments
http://www.dblink.org/pdf/adamls.pdf
Educational Issues
Travel cane Driver’s training & driver’s
license One-on-one interpreter Support Service Provider
(SSP)
Deaf-Blind Perspectives www.tr.wou.edu/tr/dbp
DB-Perspectives,Vol.9, Issue 1
“What’s My Role?” A Comparison of the Responsibilities of Interpreters, Interveners, and Support Service Providers
by Susannah Morgan
Educational Issues
Balance problems for Type 1 and 3 may contribute to overall clumsiness
May produce a wide-based gait although vision loss contributes
Certain sports may be difficult for the students
Infants and toddlers may be delayed in acquiring certain motor skills and may crawl with a “5 point stance”.
Emotional Support Issues
Being different Being uninformed Being left out of games /
activities Fearing the future Feeling insecure
DON’Ts for Usher Syndrome
1. Stand too close when fingerspelling, signing, speaking
2. Wave at the person from the sides to get attention
3. Point at another person who may want the attention
4. Grab the person’s arm to guide in the dark
5. Conversed with light coming directly behind you
6. Use large, wide-movements while using sign language
7. Attempt to carry on conversation in poor or dim light
8. Point vaguely in general direction of what you talk about.
9. Assume that person sees low obstacles.10. Be afraid to ask if help is needed.
DOs for Usher Syndrome
1. Stand at reasonable distance (4-5 ft.) when fingerspelling, signing and speaking.
2. Walk up to or ask person nearest him to call his attention.
3. Say name of person wanting attention/where person is.
4. Offer your arm for guidance in the dark.5. Keep direction of the light at the side or
behind6. Confine fingerspelling and signs,
preferably to chest level.7. Converse in a well-lighted area, if
possible.8. Point out/specify where/to what you are
referring.9. Be ready to warn about low
obstacles/unexpected steps.
10. Feel free to ask if he or she needs help.
For Parents
Read as much as you can about Usher Syndrome, but especially learn what the adults with Usher have to share – go to http://www.tr.wou.edu/dblink/lib/topics/topics.cfm
Go to training events with other parents http://www.tsbvi.edu/Outreach/maillist.htm
Help your child meet others with Usher
Prepare yourself and your child
Never loose HOPE
Some important resources
Boys Town National Research Hospital: National Center for the Study and Treatment of Usher Syndrome www.boystownhospital.org
Foundation Fighting Blindness www.blindness.org
DB-Link: National Consortium on Deaf-Blindness www.tr.wou.edu/dblink/
Texas Deafblind Outreach www.tsbvi.edu
Texas School for the Deaf www.tsd.state.tx.us
Don’t Forget to Fax to 512-206-9320
Sign-in Sheets Include evaluations Print e-mail addresses
clearly if you want to receive your SBEC certificate
Thanks forjoining the
Usher SyndromeTETN!