Texas School for the Blind Visually Impaired

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

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

Don’t Forget to Fax to 512 -206 -9320 n Sign-in Sheets n Include evaluations n Print e-mail addresses clearly if you want to receive your SBEC certificate

ACVREP Credit n ACVREP approval pending. Certificates will be sent once approval has been received. n ACVREP CEU Certificate Request Form (original broadcast date only) located on TSBVI website at www. tsbvi. edu/Outreach/ACVR EPcert_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? n Hereditary Syndrome n Hearing loss n Progressive vision loss as a result of Retinitis Pigmentosa (RP) n Combined vision and hearing loss (deafblindness)

What is Retinitis Pigmentosa? n n n 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 Born deaf Absent with inner ear balance profound hearing loss and have a corner audiogram with responses only to very loud low tones. Vision Loss Gene From RP Location Night blindness in infancy or early childhood. Blind spots by late childhood or teens. Legally blind by early adulthood. 1 A: Long arm of 14 1 B: Long arm of 11 (most common) 1 C: Short arm of 11 mostly of Acadian descent from Louisiana 1 D: Long arm of 10 1 E: Long arm of 21 1 F: Long arm of 10 1 G: Long Arm of 17

Three Types of US – Usher II Hearing Loss Balance Vision Gene Loss From Location RP Born hard of Normal hearing with inner ear balance a sloping sensorineural loss from mild loss in the low frequencies to severe/ profound loss in high frequencies. Night blindness in childhood or teens. Blind spots by late teens or early adulthood. Legally blind by early to mid adulthood. 2 a: Long arm of 1 2 b: Short arm of 3 2 c: Long arm of 5

Three Types of US – Usher III Hearing Loss Balance Vision Gene Loss From Location RP 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 3: Long arm of 3 Type 2. Night blindness in infancy or early childhood. Blind spots by late childhood or teens. Legally blind by early adulthood.

Statistics on occurrence 3 -6% congenitally deaf or hard of hearing n 50% of all cases of deafblindness; leading cause of combined vision & hearing loss in USA n Type 1 - 90% of all Usher (most common) n Type 2 - 10% of all Usher n Type 3 – seems to account for about 40% of Usher in eastern Finland; n

How is it diagnosed? n Ophthalmological exam that includes field testing as well as acuity testing n. Boys Town Research Hospital Dr. William Kimberling, Center for the Study & Treatment of Usher Syndrome Boys Town National Research Hospital – Omaha Phone – 402. 498. 6713 email kimber@boystown. org

Hereditary Pattern Autosomal recessive gene: both parents must pass gene for condition to occur n Each pregnancy 1 in 4 chance of US and 2 in 4 chance unaffected carrier n

What treatment is available? Gene therapy – preclinical settings n Nutritional therapy - vitamin A palmitate in some RP and US 2. Docosahexaenoic acid (DHA)— can enhance effect of vitamin A. www. blindness. org n 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. n Artificial retinal implants and transplants n

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

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

Educational Issues n Travel cane n Driver’s training & driver’s license n One-on-one interpreter n 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 n Certain sports problems for may be Type 1 and 3 difficult for the may contribute students to overall n Infants and clumsiness toddlers may n May produce a be delayed in wide-based acquiring gait although certain motor vision loss skills and may contributes crawl with a “ 5 point stance”. n

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

DON’Ts for Usher Syndrome 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. 1.

DOs for Usher Syndrome 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 behind 6. 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. 1.

For Parents n 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. cfm n Go to training events with other parents http: //www. tsbvi. edu/Outreach/maillist. htm n Help your child meet others with Usher n Prepare yourself and your child n Never loose HOPE

Some important resources n n n 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 n Sign-in Sheets n Include evaluations n Print e-mail addresses clearly if you want to receive your SBEC certificate

Thanks for joining the Usher Syndrome TETN!