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What is Usher Syndrome?

November 15, 2018

When it comes to the wellness of your children, there is nothing you wouldn't do to ensure they are healthy. Upon birth, there are many tests conducted by doctors and nurses to ensure the health of the baby such as vision and hearing testing. While they are looking for many different symptoms one of the reasons they perform these examinations is to check for Usher Syndrome. Usher Syndrome is inherited at birth and leads to loss of hearing, vision, and balance. While there is no cure, early diagnosis and treatment result in better outcomes.

Understanding What is Usher Syndrome

First described by a doctor in 1914, Usher Syndrome is a disease inherited that causes deafness and hearing loss in infants. In some cases, those with Usher Syndrome have had their balance compromised. There are three types of Usher Syndrome one, two, and three. Classifying them is based on:

  • The degree of hearing loss
  • Speed of progression
  • The presence of balance problems

Vision loss develops during childhood or adolescence, but within each type, the child can have individual symptoms. The progress of Usher Syndrome will vary depending on the child. Of the babies born deaf or hard of hearing, 3% to 6% had Usher Syndrome. The most common are types one and two with type three representing less than 2% of all diagnoses.

Causes of Usher Syndrome

Usher Syndrome is inherited passing from parent to child through genes. The human body is made up of anywhere between 20,000 to 25,000 genes, and every person has two copies that are given to them by their parents. Genes are coded instructions that tell the cells what to do, and if there is ever an issue, it's called a mutation. Usher Syndrome is an autosomal recessive disorder. It's a large word that means it can affect males and females equally. It also means that both parents carry a mutated gene but don't actually have Usher Syndrome. However, it's possible that each parent can pass on their one mutated gene to their child who will then have the condition. The likelihood of this happening is one in four.

Characteristics of the Types of Usher Syndrome

Usher Syndrome Type 1

Children who are diagnosed with type one will display significant hearing loss, deafness, and have trouble with balance at birth. The balance issues for children with type one will prolong their ability to sit without support and learn to walk. Vision loss can start to present itself by the time they reach ten years old. It will start with difficulty seeing at night and potentially progress into blindness. Hearing aids may or may not benefit those who have type one.

Usher Syndrome Type 2

Type 2 has a moderate effect on the hearing and vision loss in children. Most babies won't experience much of an issue regarding balance. Because type 2 doesn't lose as much regarding hearing and vision, children are often able to communicate effectively and can sometimes find success wearing hearing aids. Loss of sight doesn't present itself until they become teenagers and most often does not result in complete and total blindness.

Usher Syndrome Type 3

Children with Type 3 have normal to almost perfect balance when they are infants. It is possible they will develop balance problems as they begin to age. How the vision and hearing declines vary for Type 3. Most will develop some form of hearing loss by the time they are adolescents but won't require hearing aids until adulthood. Concerning vision, blind spots may appear in their late teens or early twenties, but becoming legally blind wouldn't happen until they are further into adulthood.

Testing and Treating Usher’s Syndrome

The Vision Test

As previously mentioned, depending on the classification of Usher Syndrome vision loss can happen between 12 months and ten years or as a teenager. The test will include an examination of the retina, visual field testing, and electroretinogram. The latter also referred to as an ERG will confirm the presence of retinitis pigmentosa which is an eye disease. Deteriorated genes and sensitivity to light is what the examination will be looking for.

The Balance Test

The balance test includes an electronystagmogram (ENG). It's a sensory test used to determine if there is damage to the vestibular. The vestibular system is part of the inner ear and plays a significant role in maintaining balance. The ENG can detect involuntary rapid eye movement. If rapid eye movement does not take place, a problem may lie within the ear.

The Hearing Test

It's standard for newborns to undergo hearing testing, but if for any reason they don't pass a more in-depth examination will be completed. Based on the symptoms displayed, genetic testing could be conducted to confirm whether or not they have Usher's Syndrome. If type three is suspected in older children, an audiology test will be completed.

Testing Usher Syndrome in Nashville

Diagnosing Usher Syndrome early leads to better treatment plans and outcomes. The diagnoses start with looking into the medical history and then testing vision, hearing, and balance. At OAT, we treat families with the respect and compassion they need. Our facility offers diagnostic tools and procedures from board-certified pediatric ENT specialists to help you get to the root of the problem.

Living with Usher Syndrome

Custom Ear Plugs

Using the latest technologies, our audiologists will work with your child or teenager to assess hearing and find an effective solution. If needed, we offer a wide range of options from wireless to custom hearing aids to help personalize the sound experience and make it more comfortable for your child.

Contact us today to book your appointment.


Topics: Hearing Aids, Ear Care