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.
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.
(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.
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.
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.
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.
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.
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.