Texas School for the Blind

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Texas School for the Blind Visually Impaired
Outreach Department

• Presents TETN 30,238
• Usher Syndrome An Overview

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Events in February . . .

• February 1-2nd - Mentor Training at TSBVI
• February 13th - TETN OM 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

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Dont 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

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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

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Usher Syndrome An Overview

• Presented by
• Kate Moss, Statewide Staff Development
  Coordinator
• Edgenie Bellah, Family Specialist
• TSBVI Outreach
• With Special Guest, Linda Carter

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What is Usher Syndrome?

• Hereditary Syndrome
• Hearing loss
• Progressive vision loss as a result of Retinitis
  Pigmentosa (RP)
• Combined vision and hearing loss (deafblindness)

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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

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Example of Tunnel Vision
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Three Types of US Usher I
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Three Types of US Usher II
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Three Types of US Usher III
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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

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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 [phone]email - kimber_at_boystown.org

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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

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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

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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)

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Educational Issues

• Functional Vision Assessment or Evaluation (FVE)
• Learning Media Assessment (LMA
• Communication Part B
• Orientation Mobility Assessment

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Tool for assessment

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

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Educational Issues

• Travel cane
• Drivers training drivers license
• One-on-one interpreter
• Support Service Provider (SSP)

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Deaf-Blind Perspectives www.tr.wou.edu/tr/dbp
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DB-Perspectives,Vol.9, Issue 1

• Whats My Role? A Comparison of the
  Responsibilities of Interpreters, Interveners,
  and Support Service Providers
• by Susannah Morgan

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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.

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Emotional Support Issues

• Being different
• Being uninformed
• Being left out of games / activities
• Fearing the future
• Feeling insecure

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DONTs for Usher Syndrome

• 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 persons 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.

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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.

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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

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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

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Dont 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

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• Thanks for
• joining the
• Usher Syndrome
• TETN!