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

Jan 11, 2016

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

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

Page 2: Texas School for the Blind & Visually Impaired Outreach Department 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

Page 3: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 4: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 5: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

Usher Syndrome: An Overview

Presented by

Kate Moss, Statewide Staff Development Coordinator

Edgenie Bellah, Family Specialist

TSBVI Outreach

With Special Guest, Linda Carter

Page 6: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

What is Usher Syndrome?

Hereditary Syndrome Hearing loss Progressive vision loss as a

result of Retinitis Pigmentosa (RP)

Combined vision and hearing loss (deafblindness)

Page 7: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 8: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

Example of Tunnel Vision

Page 9: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 10: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 11: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 12: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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;

Page 13: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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 -

[email protected]

Page 14: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 15: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 16: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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)

Page 17: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

Educational Issues

Functional Vision Assessment or Evaluation (FVE)

Learning Media Assessment (LMA

Communication – Part B Orientation & Mobility

Assessment

Page 18: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

Tool for assessment

Use for completing the FVE, LMA and Communication Part-B assessments

http://www.dblink.org/pdf/adamls.pdf

Page 19: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

Educational Issues

Travel cane Driver’s training & driver’s

license One-on-one interpreter Support Service Provider

(SSP)

Page 20: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 21: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 22: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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”.

Page 23: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

Emotional Support Issues

Being different Being uninformed Being left out of games /

activities Fearing the future Feeling insecure

Page 24: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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.

Page 25: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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.

Page 26: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 27: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.
Page 28: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

Page 29: Texas School for the Blind & Visually Impaired Outreach Department Presents TETN # 30,238 Usher Syndrome: An Overview.

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

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

Thanks forjoining the

Usher SyndromeTETN!