Texas School for the Blind & Visually Impaired Outreach Department

1. Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview

2. Events in February . . . • February 1-2nd - Mentor Training at TSBVI • February 13th - TETN O&M for Babies Who Are Non-Mobile • February 15-16th – VI Touch Workshop with Barbara Miles • February 18-19th – Intervener Statewide Workshop in Austin • February 24-26th – Mentor Center at TSBVI

3. 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

4. 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

5. Usher Syndrome: An Overview Presented by Kate Moss, Statewide Staff Development Coordinator Edgenie Bellah, Family Specialist TSBVI Outreach With Special Guest, Linda Carter

6. What is Usher Syndrome? • Hereditary Syndrome • Hearing loss • Progressive vision loss as a result of Retinitis Pigmentosa (RP) • Combined vision and hearing loss (deafblindness)

7. 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

8. Example of Tunnel Vision

9. Three Types of US – Usher I

10. Three Types of US – Usher II

11. Three Types of US – Usher III

12. 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; Statistics on occurrence

13. 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 - kimber@boystown.org How is it diagnosed?

14. 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

15. 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

16. 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)

17. Educational Issues • Functional Vision Assessment or Evaluation (FVE) • Learning Media Assessment (LMA • Communication – Part B • Orientation & Mobility Assessment

18. Tool for assessment • Use for completing the FVE, LMA and Communication Part-B assessments • http://www.dblink.org/pdf/adamls.pdf

19. Educational Issues • Travel cane • Driver’s training & driver’s license • One-on-one interpreter • Support Service Provider (SSP)

20. Deaf-Blind Perspectives www.tr.wou.edu/tr/dbp

21. 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

22. 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”. Educational Issues

23. Emotional Support Issues • Being different • Being uninformed • Being left out of games / activities • Fearing the future • Feeling insecure

24. Stand too close when fingerspelling, signing, speaking Wave at the person from the sides to get attention Point at another person who may want the attention Grab the person’s arm to guide in the dark Conversed with light coming directly behind you Use large, wide-movements while using sign language Attempt to carry on conversation in poor or dim light Point vaguely in general direction of what you talk about. Assume that person sees low obstacles. Be afraid to ask if help is needed. DON’Ts for Usher Syndrome

25. DOs for Usher Syndrome • Stand at reasonable distance (4-5 ft.) when fingerspelling, signing and speaking. • Walk up to or ask person nearest him to call his attention. • Say name of person wanting attention/where person is. • Offer your arm for guidance in the dark. • Keep direction of the light at the side or behind • Confine fingerspelling and signs, preferably to chest level. • Converse in a well-lighted area, if possible. • Point out/specify where/to what you are referring. • Be ready to warn about low obstacles/unexpected steps. • Feel free to ask if he or she needs help.

26. 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

28. 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

29. 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

30. Thanks for joining the Usher Syndrome TETN!