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SED 350 Usher's Syndrome - Deafed.net Homepage


  • pg 1
									Author: Jack Slemenda
Converse College, SC

    Date submitted to deafed.net – March 20, 2008
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Usher’s Syndrome

         Jack Slemenda
        Converse College
Usher’s Syndrome is an inherited
condition that causes 1) a serious
hearing loss that is usually present at
birth or shortly thereafter and 2)
progressive vision loss caused by
retinitis pigmentosa (RP).
RP is a group of inherited diseases
that cause night-blindness and
peripheral (side) vision loss through
the progressive degeneration of the
retina, the light-sensitive tissue at the
back of the eye that is crucial for
 Who is affected by Usher’s

Approximately 3-6 percent of all deaf
children and perhaps another 3-6
percent of hard-of-hearing children
have Usher Syndrome. In developed
countries such as the United States,
about 4 babies in every 100,000 births
have Usher’s Syndrome.
What causes Usher’s
Usher’s Syndrome is inherited or passed
from parents to their children through
Some genes specify traits such as hair
color. Other genes are involved in the
development of body parts, such as the
ear. Still others determine how parts of the
body work. Each person inherits two copies
of each gene, one from each parent.
Additional Causes of Usher’s
 Genes for Usher’s Syndrome are
 autosomal recessive, a term meaning that
 1) Usher genes are located on
 chromosomes other than the sex
 chromosomes, and 2) both parents must
 contribute the mutated gene to the child
 before the disorder is seen.
  A number of different genes have been
 found to cause the various types of Usher’s
How is Usher’s Syndrome diagnosed?

Since Usher’s Syndrome involves
both hearing and visual symptoms;
testing is performed on both.
Visual function tests: visual fields
and electroretinogram (ERG)
A retinal examination
Hearing tests
Balance tests for all patients age ten
years and older
What are the types of Usher’s

 Type 1 (USH1)
 Type 2 (USH2)
 Type 3 (USH3)
 Together, they account for
 approximately 90-95 percent of all
 cases of children who have Usher’s
Characteristics of the three types of
Usher’s Syndrome?

                            Type 1
   Profoundly deaf from birth
   Have severe balance problems. Because of the balance
   problems, children with USH1 are slow to sit without support
   and rarely learn to walk before they are 18 months old.
   Little or no benefit from hearing aids. Most use sign
   language as their primary means of communication.
   Usually begin to develop vision problems by the time they
   are ten. Visual problems most often begin with difficulty
   seeing at night, but tend to progress rapidly until the
   individual is completely blind.
Characteristics of Usher’s Syndrome

                     Type 2
   Born with moderate to severe hearing
   impairment and normal balance.
   Use speech to communicate.
   Visual problems progress more slowly.
   Characterized by blind spots that begin
   to appear shortly after the teenage
   When an individual's vision deteriorates
   to blindness, his or her ability to speech
   read is lost.
  Characteristics of Usher’s Syndrome

                      Type 3

Normal hearing and normal to near-normal balance.
Hearing worsens over time Children develop
noticeable hearing problems by their teenage years
and usually become deaf by mid- to late adulthood.
Night blindness usually begins sometime during
puberty. Blind spots appear by the late teenage years
to early adulthood. By mid-adulthood, the individual is
usually blind.
How is Usher’s Syndrome treated?
There is no cure for Usher’s Syndrome.
The best treatment: early identification (by a Genetics
Doctor) in order to begin educational programs. The
nature of these educational programs will depend on
the severity of the hearing and vision impairments as
well as the age and abilities of the individual. Special
training needs to incorporate the family, as well.
Access to technology :hearing aids, assistive listening
devices, or cochlear implants; orientation/ mobility
training; and communication services and
independent-living training that may include Braille
instruction, low-vision services, or auditory training.
Communication services and independent-living
training that may include Braille instruction, low-vision
services, or auditory training.
 Latest research findings

June 12, 1998, issue of the journal Science, by Dr.
William J. Kimberling, an investigator supported by
the National Institute on Deafness and Other
Communication Disorders (NIDCD).
The scientists described three different mutations
in a gene called USIIa. This gene was previously
mapped to a location on chromosome 1 and is
associated with the syndrome.
In April 2003, NIDCD researchers, along with their
research collaborators from universities in New
York, N.Y., and Tel Aviv, Israel, pinpointed a
mutation, named R245X, of the PCDH15 gene that
accounts for a large percentage of USH1 cases in
today's Ashkenazi Jewish population.
Usher’s Syndrome is rare in the general
population (3 per 100,000). However, two to 5
percent of the genetic deaf population have the
disease. This inherited condition is the cause
of more than half of all deaf-blindness in adults.
Students need to be informed that they have
Usher’s and also of the disabling conditions.
Students visual field and dark adaptation
abilities deteriorate so that they will need
additional assistance during the evening hour
Provisions for those with
Usher’s Syndrome
 Family counseling
 Medical and
 Educational diagnoses
 Itinerant home
 Teacher training
 Instruction: includes
 the use of other
 senses; augmentative
 devices; enlarged
 books, symbols and
 tactile objects..
Dorothy Stiefel’s book called The Madness
of Ushers Syndrome: Copying with Vision
and Hearing Loss/Usher’s Syndrome Type
American Association of the Deaf-Blind
814 Thayer Avenue, Suite 302
Silver Spring, MD, 20910
Voice: (301) 495-4403
TTY: (301) 495-4402
Fax: (301) 495-4404
E-mail: info@aadb.org
Internet: www.aadb.org
            Additional Resources
         Better Hearing Institute (BHI)
           515 King Street, Suite 420
             Alexandria, VA, 22314
Toll-free Voice: (800) EAR-WELL (327-9355)
        Internet: www.betterhearing.org
Helen Keller National Center for Deaf-Blind
          Youths and Adults (HKNC)
             141 Middle Neck Road
            Sands Point, NY, 11050
              Voice: (516) 944-8900
              TTY: (516) 944-8637
             Internet: www.hknc.org
 Scheetz, Nanci A., (2001)Orientation to
 Deafness 2nd Edition . Library of Congress
 National Institute on Deafness and Other
 Communication Disorders
 National Institutes of Health
 31 Center Drive, MSC 2320
 Bethesda, MD USA 20892-2320
 E-mail: nidcdinfo@nidcd.nih.gov

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