Information About Usher Syndrome

reprinted with permission from
Barbara Sims, Director of the Center on Deafness, Springfield, Illinois and
Kathryn Raistrick, Coordinator of Deaf-Blind Services, Illinois Department of Rehabilitation Services, Springfield, Illinois
Spring 1996

What is Usher Syndrome?

Usher Syndrome is a genetic disorder involving the loss of both sight and hearing. Hearing loss occurs at birth or shortly thereafter. A progressive loss of vision due to retinitis pigmentosa (degeneration of the eye's retinas) begins later in life, but usually before adolescence. There is no way of knowing the exact time of onset or rapidity of the vision loss, but in most cases the result is legal blindness.

A person with Usher Syndrome has inherited the Usher gene from both parents. Usher Syndrome is an autosomal recessive gene, and both parents must pass the gene to their child in order for the child to have the condition. When both parents have the gene, the chances each child will have Usher Syndrome is one in four. While only approximately 3 per 100,000 people have Usher Syndrome, it is estimated that 3-6% of people who are congenitally deaf have the condition. Usher Syndrome accounts for over 50% of all cases of deaf-blindness, with approximately 10,000 known cases in the United States. In the general population, anywhere from 1 in 100 to 1 in 300 carry the Usher gene.

The two major types of Usher Syndrome are Type I and 11. The most common is Type I (almost 90% of all Usher), and is deafness with retinitis pigmentosa symptoms before adolescence. In Type II (almost 10%), moderate to severe congenital hearing loss is paired with retinitis pigmentosa symptoms after adolescence.

Why is it important to diagnose Usher Syndrome as soon as possible?

Identifying Usher Syndrome as early as possible is important because:

1. The gradual decrease in vision may go unnoticed by an individual who may continue activities (such as driving or working in hazardous conditions) that cannot be safely done anymore.
2. The individual, parents and teachers can plan for educational and vocational experiences and guidance that take into account the eventual visual difficulties.
3. A diagnosis of Usher Syndrome in an older child allows parents to consider genetic counseling. Persons who have Usher Syndrome may also want to consider genetic counseling.

What diagnostics are needed? Where and how can we get them?

Several tests are used to determine whether a person has retinitis pigmentosa, and that is how a person who has a hearing loss is identified as having Usher Syndrome. These tests include a visual field test to assess side vision, testing to evaluate color vision, and dark adaptation. However, the definitive test of retinitis pigmentosa is electroretinography (ERG) which has been found to be 95% accurate.

ERG is the measurement of the electricity given off by nerve impulses in the retina. The test, which is painless, is done by having the patient wear special contact lenses while looking at a flashing light.

Many major medical centers perform ERGs. For further information, contact your local ophthalmologist or Texas Commission for the Blind.

Usher Syndrome screening characteristics: What are behavioral symptoms teachers and parents may see that suggest Usher Syndrome?

Characteristics	Type I	Type II
Hearing impairment	Congenitally deaf	Hearing impaired
Vestibular functioning	Impaired balance	Normal balance
Vision impairment	Retinitis pigmentosa	Retinitis pigmentosa
Genetic information	Autosomal recessive (The gene location has been identified.)	Autosomal recessive (The gene location has been identified.)
Night blindness	Before the age of five	Latter part of onset (at second or beginning of third decade)
Visual field loss	Appears mid-childhood Less than 20 degrees probable by mid 20's	Slower, but legal blindness probable at some point
Central visual acuity	Progressive loss with early development of cataracts	Less severe but great variation
Prognosis	Variable, but light perception only is likely in later life	Variable, some have considerable vision later, others only light perception by their 60's

In addition to the congenital hearing loss, a person with Usher Syndrome has increasing difficulty seeing in the dark or to the side. Vestibular problems (such as poor balance) may also be present. Problems with central vision may develop later. The following are characteristics which may indicate Usher Syndrome and can be used for basic screening:

Night Blindness:

• Can't see when coming in from bright sunlight
• Trips over things when light changes or light is dim
• Stays near a light in a dark room or at night
• Moves a speaker so light falls on face
• May express a desire to enter a room before it is darkened (movie theater, etc.)
• Avoids conversations in a darkened area
• When walking along a road at night, may appear to stagger or lose balance after an oncoming car has passed
• Has problems reading under some lights or in dimly lit areas

Glare sensitive:

• Squints and shades eyes in bright lights or fluorescent lighting - complains that the light hurts his/her eyes
• Likes to wear sunglasses even in buildings, but especially in bright sunlight
• Avoids participating in outdoor sports when the sun is very bright
• May appear awkward when exiting from the inside to the outside of a building (when faced with bright light)

Needs contrast:

• Has difficulty reading light copies or ditto copies
• Often spills when pouring liquids
• Can't see stars at night

Restricted field:

• Startles easily
• Seems to hold eyes in a different direction when looking at some things (because of islands of vision)
• Turns head while reading across a page
• Uses finger to mark place while reading
• Can't find small objects that have been dropped
• Fails to glance at another person's handwaving from the side
• Bumps into people, tables, and chairs
• Stumbles on stairs and curbs
• Is quiet in a large group or may edge him/herself to one side when placed in a group
• Frequently fails to understand or misses groups instruction. Often relies on friends for information
• May appear to ignore others standing by his/ her side
• Prefers conversation at distances of 4 to 6 ft.

Problems with visual acuity:

• Holds book close to eyes, or bends to read
• Places face close to desk while writing
• Sits near blackboard

Balance problems:

• Can't ride a bicycle
• Is considered clumsy
• Loses balance easily in the dark

Other:

• Frequently last in completing group activities
• Exhibits symptoms of anxiousness in new areas
• Often last to enter the room
• May have some repetitive behavior (seems to do the same things in the same ways, or continues to order the same things at lunch)
• May choose to stay home alone rather than be faced with the embarrassment of dealing with a new situation in the dark
• May appear unconcerned and may fail to fully participate in groups activities
• Frequently hesitates at the top or bottom of stairs (for orientation)
• Avoids walking or running in unfamiliar areas, especially when there is bright sunlight or when in a darkened area
• Appears to be constantly visually scanning a group

Hearing Loss in Usher Syndrome

Type l

• Children are born profoundly deaf or with just a little hearing in the low tones at loud levels of sound.
• Most but not all state that hearing aids help only a little or not at all.
• Some young children are showing benefit from cochlear implants.

Type II

• Children are born hard of hearing with a sloping audiogram so hearing high pitches is harder than hearing low tones.
• Hearing aids are effective and most children are mainstreamed.
• Hearing loss does not change over many years but may go down with noise exposure or with aging.
• When vision gets bad, people think they are losing their hearing but, instead, they are losing the ability to lipread.

How does Usher Syndrome impact on education?

If teachers, parents and students are proactive, education can prepare the student with Usher Syndrome for employment and independent living. As with all children, many factors come into play when determining the best educational placement. Programs should meet all the needs the individual may have in the future, and provide vocational and mobility training, as well as academics.

In general, a teacher should always be aware of the student's visual field, even though the student's ability to see may vary from day to day. Consultation with an itinerant teacher of children who are visually impaired is invaluable. Overall, always take into account the student's future dual-sensory impairment when identifying skills to teach.

Specific adaptations are helpful for many persons with Usher syndrome. The following suggestions are from “The Usher Syndrome Adolescent Implications for School Administrators, Teachers, and Residential Advisors” by Wanda M. Hicks, specialist at Gallaudet College, and “When You Have a Visually Handicapped Child in Your Classroom: Suggestions for Teachers” by Iris Torres and Anne L. Corn, for the American Foundation for the Blind.

Classroom Accommodations and Adaptations:

• Lighting should be adequate without glare. Use full spectrum lighting whenever possible.
• Teachers should provide group instruction from a non-cluttered background area, and avoid unneeded movement.
• Windows should be behind students. Teacher should never be in front of windows.
• Chalkboard should be cleared of unneeded marks, and regular printing (instead of all capital letters) used. Use white chalk only.
• Colors should be softly neutral, yet textured,in the background of the teaching area. Floors and carpets should not be dark red or brown.
• Furniture should be arranged to provide easy movement in open space. Keep drawers and doors closed. Discuss all furniture rearrangement with students. Seat students where they are comfortable (e.g., possibly front side so they can see the chalkboard and other students in the class).

Materials:

• Print should be maximum contrast. Avoid dittos; if dittos must be used, give the student a yellow acetate overlay to use. Use 12 to 18 point type with non-glare paper.
• Students may need individual copies of wallhung graphs or charts, or they may need time to examine these charts close-up.
• Tests may have to be adapted for individual use, including allowing students to mark answers on test booklets or providing the test in a different format.
• Low-vision aids may eventually be prescribed, and assistive listening devices can be used.

Techniques:

• Others may have to adapt their sign language to adjust to the student's limited vision. Keep signs as small and concise as possible, and increase the duration of each sign. Eventually, tactile sign may be a receptive option.
• Begin including more and more tactile and olfactory materials and cues for the student. A vision teacher and/or an orientation and mobility specialist may recommend techniques to use during specific activities.
• When lighting is inadequate, a “sighted guide” can help the student move in unfamiliar areas.
• For all tasks, students may need “time and a half” to complete the same work as their peers.

When doing repetitive academic work, students can be assigned half the questions or problems their peers are assigned to equalize the length of time spent in homework or academic drill.

What are the emotional issues, and where can students andfamilies get support?

It can be difficult to cope with the initial diagnosis of Usher Syndrome. When the diagnosis is made for a minor child, parents and doctors will want to take the child's age and maturity into account when telling the child. In general, children's questions should be answered honestly, but with a positive attitude, providing only enough information to answer those particular questions. Most professionals feel students should know their condition before going into high school, if it is diagnosed by this time. This way they can make educational and vocational choices that will compensate for their eventual dual-sensory loss.

Depression and anger may follow the initial diagnosis. The following are symptoms or behaviors that may occur:

• Talking or thinking about suicide: While few deaf-blind people actually commit suicide, these feelings are legitimate and need to be addressed by all in contact with the person.
• Increased isolation: Isolation may have been noted even before diagnosis. Coping skills already used may be expanded to include skills needed for increased night blindness and tunnel vision.
• Other symptoms of grief: As in any traumatic situation, the person with Usher Syndrome will pass through, and alternate between, the stages of grief. The same applies to the person's family.
• Perceptions of others: Deaf friends may feel the student with Usher Syndrome is ignoring them, intentionally acting “clumsy” or“stupid.” Explaining to students with Usher Syndrome how they can compensate socially for their decreased vision can help them develop new means of relating with friends.

Resources

DB-Link - National Information Clearinghouse on Children Who are Deaf-Blind
(800) 438-9376 (voice) or (800) 854-7013 (TTY)
Internet: leslie@fsa.wosc.osshe.edu
SpecialNet: TRD

Helen Keller National Center for Deaf-Blind Youths and Adults
111 Middle Neck Road
Sands Point, NY 11050

Texas Association of Retinitis Pigmentosa
P.O. Box 8388 Corpus Christi, Texas 78468-8388
(512) 852-8515 (voice, TTY, fax)

Texas Commission for the Blind
Deaf-Blind Services
4800 North Lamar Austin, Texas 78756
(512) 459-2575

Texas School for the Blind & Vsually Impaired
Deaf-Blind Outreach
1100 West 45th Street Austin, Texas 78756
(512) 206-9242 (voice) or (512) 206-9282 (TTY)

“Usher Around the World” newsletter
5801 Southwood Drive
Bloomington, Minnesota 55437
(612) 831-5522

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