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6 things to know about Usher Syndrome

There are over 70 known syndromes that can cause deafblindness in people and the leading cause among these is Usher Syndrome.

Young boy with hearing aids looks at the sky

There are over 70 known syndromes that can cause deafblindness in people, (National Child Count, 2019) and the leading cause among these is Usher Syndrome. In this blog, we will unpack Usher Syndrome with a brief overview of the cause and types of Usher, what the characteristics of Usher are, modifications and accommodations that may help the individual with Usher, and a list of resources to learn more.

What is Usher Syndrome?

Usher Syndrome, first recognized in 1914, is a genetic syndrome that can manifest when two carriers of the genetic mutation pass the gene on to their child. It is an autosomal recessive disorder, so if each parent carries the mutated gene, there is a 1 in 4 chance a child of theirs will have Usher. In general, Usher is characterized by varying degrees of hearing loss, followed by vision loss, and, in some types, balance issues. The National Institute of Health reports that 3%-6% of both deaf and hard-of-hearing children have Usher Syndrome.

What are the types of Usher Syndrome?

There are 3 types of Usher: Type I, II, and III:

  • Type I: In this type, a child is generally born with a severe to profound hearing loss. Typically, vision loss, in the form of Retinitis Pigmentosa (RP), begins to appear during pre-adolescence (age 10). Children with this type of Usher also have severe balance issues and may sit or walk later than is typical.
  • Type II: This type presents with a hearing loss in the moderate-to-severe range. Onset of vision loss tends to be later (teenage to young adult aged), and progresses more slowly than Type I. Balance remains intact. 
  • Type III: Children born with Type III Usher, have normal hearing at birth, but may begin to lose their hearing in childhood or during their teen years. Onset and severity of vision loss varies among individuals, but usually begins during teenage years.  Balance is normal, but can become an issue in later years.

(Types I & II comprise the majority of Usher Syndrome in this country)

Types I & II Usher Syndrome are further broken down into subtypes (Types Ib, Ic, Id, If, Ig, and Types IIa, IIc, & IId). These different-lettered types reflect the various genes that are involved.

What is Retinitis Pigmentosa?

Retinitis Pigmentosa (RP) is a degenerative disease of the retina, the “film” for the “camera” that is our eye. With RP, the retina’s light-sensing cells called rods and cones, progressively

deteriorate, causing loss of night vision and peripheral vision.  As RP begins to progress, a person may have difficulty seeing at night, or accommodating when going from light to dark environments, and vice versa. As the peripheral vision begins to lose, the person may bump into or trip over things that they do not see. Because the loss is gradual, they may not realize the loss at first. In severe cases, the person can end up with “tunnel vision” where their acuity may be within the normal range, but their fields are drastically constricted. A constricted field of vision down to 20 degrees would be considered legal blindness.

What type of hearing loss is associated with Usher?

The hearing loss associated with Usher Syndrome is a sensorineural loss, effecting the cochlea, the spiral shaped structure in the inner ear that transmits sound to the auditory nerve. The tiny hair cells within the cochlea are damaged so they do not transmit sounds effectively. Cochlear implants can be of assistance, particularly with the profound loss of Usher Type I, whereas those with Usher Type II may benefit from hearing aids.

What are the treatments for Usher Syndrome?

There is currently no cure for Usher Syndrome. Treatment is generally in the form of managing the associated hearing loss, vision loss and possible balance issues. Individuals with Usher Syndrome should be followed by an audiologist to monitor hearing loss, prescribe hearing aids if needed, and consult on the possibility of cochlear implantation. Ophthalmologists, especially those who are retina specialists can monitor vision loss, and make recommendations around use of UVA/UVB sunglasses and any other treatments. There is some evidence that use of Vitamin A may slow the progress of vision loss in some individuals with Usher Type II, but it remains somewhat controversial and must be monitored by medical personnel. Balance issues may be monitored by a Physical Therapist and/or an Orientation & Mobility Specialist. Children may be followed by both a Teacher of the Deaf & Hard of Hearing and a Teacher of the Blind and Visually Impaired. Both of these specialists would be able to make recommendations for modifications and accommodations in the home, school and community environments for the child with Usher Syndrome.

What modifications and accommodations are helpful for the individual with Usher Syndrome?

The following is a simple list of a few things to consider for the child with Usher Syndrome that may assist them with access to their environment with regard to their vision/hearing/balance issues. It is by no means exhaustive, and, as mentioned above, the Teachers of the Deaf/HH, Blind/VI and O & M Specialists will be able to make specific recommendations that will suit your particular child.

With regard to vision:

  • Ensure there is adequate lighting in any given environment for the task at hand;
  • When using printed materials, ensure there is good contrast to make print more easily readable;
  • Allow extra time for reading and assignments. It can be exhausting to read long passages when the field of vision is narrowed. (This remains a major concern for students as they progress in school and begin to lose more vision);
  • When using Smartboards/overheads/media, give the child a hard copy of the material that they may refer to later;
  • Work with a technology specialist to assure that any and all modifications & accommodations necessary are available on their computer

With regard to hearing/communication:

  • If the individual uses sign language, reduce the area in which you are signing so he/she can have access to your signs within their field of vision;

With regard to orientation & mobility:

  • Ensure that the child is well-oriented to the environments in which they will spend time and need to negotiate. Keep furniture and displays in consistent places and re-orient if anything changes;
  • Use of a flashlight at night, or when in any environment that is darkened;
  • Allow extra time for the child to accommodate from differently lighted areas;
  • Where necessary, have stairways marked or painted white or yellow on the edges for ease of mobility;
  • Consider letting school-aged children changing classes leave early to negotiate hallways before becoming crowded with other students.

Finally:

While the combined vision and hearing loss, along with possible balance issues can be, at the very least, challenging, individuals with Usher can lead very successful, productive and happy lives. The key is in having the appropriate modifications and accommodations in place to allow maximum access to information in the environment.

Resources to learn more about Usher Syndrome:

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