Usher Syndrome in Children
What is Usher syndrome in children?
Usher syndrome is a disorder that is passed down through families (inherited). A syndrome
is a group of symptoms that happen together. Usher syndrome involves both hearing
loss and vision loss. The hearing loss may be mild to complete. The vision problem
is called retinitis pigmentosa. The retinas of the eyes are slowly damaged over time.
The retinas receive light and play a very important part in being able to see. Usher
syndrome is the most common childhood condition that affects both vision and hearing.
What causes Usher syndrome in a child?
Usher syndrome is passed on from parents to their children. It may be inherited when
both parents are carriers of an abnormal gene. If both parents have the gene, they
have a 1 in 4 chance of having a child with Usher syndrome with each pregnancy.
What are the symptoms of Usher syndrome in a child?
Symptoms depend on the type of Usher syndrome. There are several types and many sub-types
of the syndrome. Symptoms of the syndrome may include:
- Problems with hearing or deafness
- Problems with balance
- Problems with eyesight or blindness
The problems with eyesight are caused by an eye disorder called retinitis pigmentosa.
This disorder includes a group of eye diseases that leads to gradual loss of eyesight.
How is Usher syndrome diagnosed in a child?
All newborn babies are screened for hearing problems. If a hearing problem is found
in the newborn, the baby will have follow-up testing. Your child's healthcare provider
will test hearing, eyesight, and balance to diagnose Usher syndrome. The tests include:
- Electronystagmography (ENG). This test checks eye movements to help diagnose balance problems.
- Vision testing. Different tests are used to test the eyesight of very young children.
- Eye exam. An eye doctor will look at the retina during an eye exam.
- Electroretinography (ERG). This test checks how the retina reacts to light. It is used to diagnose retinitis
- Hearing evaluation. A hearing specialist will examine the ears and do a series of tests to check your
One a child is diagnosed, he or she may have genetic testing to find out the type
of Usher syndrome.
How is Usher syndrome treated in a child?
Treatment will depend on your child’s symptoms, age, and general health. It will also
depend on how severe the condition is.
Usher syndrome has no cure. Spotting it early is very important so that support and education
can begin as soon as possible. Treatment may include:
- Cochlear implants
- Hearing aids
- Hearing or auditory training
- Low vision support
- Speech, physical, and occupational therapy
- Orientation and mobility training to help with balance
- Counseling to help you and your child deal with a long-term health problem
How can I help my child live with Usher syndrome?
The hearing, vision, and balance problems may get worse over time. Your child will
need ongoing care and support, as his or her needs change.
When should I call my child’s healthcare provider?
Call your child’s healthcare provider if you notice your child is having trouble with
his or her eyesight, hearing, or balance.
Key points about Usher syndrome in children
- Usher syndrome is an inherited problem with both hearing loss and vision loss.
- Usher syndrome is passed on from parents to their children.
- If both parents are carriers, they have a 1 in 4 chance of having a child with Usher
syndrome with each pregnancy.
- Hearing, vision, and balance tests are used to diagnose Usher syndrome.
- There is no known cure for Usher syndrome.
- Finding the syndrome early is important so that support and education programs can
begin as soon as possible.
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
- Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.