Does your child have both hearing and vision problems? Let's talk about Usher Syndrome!

Have you ever noticed that your little one's hearing is a little impaired? Maybe they started walking a little later than other babies? Then, as they get older, do you notice that they have trouble seeing in low light at night? If there are more than one of these problems, the cause may be different than you think. Today we're talking about a rare condition that affects all three of these at once: hearing, vision, and sometimes balance, but it's not talked about much in society. This is called Usher Syndrome.

What exactly is Usher Syndrome?

Simply put, Usher syndrome is an inherited condition. It mainly causes hearing loss, vision loss, and balance problems in some people. Think of it like a blueprint for how our bodies will grow. This condition is caused by a very small change in these genes, called a mutation. Due to this genetic change, the organs related to hearing and vision do not develop properly while the baby is growing in the womb.

Symptoms of this condition are usually present at birth (congenital) or begin to appear in childhood. Very rarely, symptoms can appear in adulthood. There is currently no cure for this condition. But don't worry. There are many ways to manage these symptoms and help your child live a good life.

Are there different types of this?

Yes, there are about 10 known genetic mutations that cause it. Usher syndrome is divided into three main types, depending on how these genes are put together. All of these types can cause hearing, vision, and balance problems. But the main difference between them is the time at which symptoms start and their severity.

To make it easier to understand, let's look at this in a table .

This is not a very common condition in Sri Lanka. It affects between 3 and 6 per 100,000 people worldwide.

What are the main symptoms of this condition?

Let's now talk about these symptoms in a little more detail.

• Hearing loss: Some children may be born deaf or have very weak hearing. For others, their hearing gradually begins to decline as they get older.

• Vision loss: This is caused by a condition called Retinitis Pigmentosa (RP) . Simply put, it is the gradual destruction of the light-sensitive cells (rods and cones) in the retina of our eyes.
• The first symptom: night blindness. The inability to see things clearly at night, in dimly lit areas.
• The next stage: Narrowing of the field of vision (tunnel vision). It's like looking through a tunnel, with only straight-ahead vision and no peripheral vision. Over time, this condition can become severe and lead to complete blindness.

• Balance issues: This especially affects children with Type 1. The parts of our inner ear that help control our balance are damaged. This condition can cause these parts to become damaged. This is why these children take a while to learn to walk. They may feel like they are constantly falling.

Why is this happening? What is the reason?

As we discussed earlier, this is a completely genetic condition. This pattern of inheritance is called an autosomal recessive pattern . This means that for a child to develop this condition, the child must inherit the defective gene from both the mother and father .

Imagine, if the child inherits the defective gene from only the mother and the healthy gene from the father, the child will not develop the disease. But the child will become a carrier of the defective gene. Even though he or she will not have symptoms, he or she can pass the gene on to his or her children.

How do I find out if I have this condition?

The diagnostic method varies depending on the child's symptoms and type.

Imagine, if your baby is diagnosed with a hearing impairment during the newborn hearing screening that is done at the hospital right after birth, the doctors will do further tests to investigate the issue. Then, if they suspect Usher syndrome, they may recommend genetic tests .

If your child shows hearing or vision problems after they get a little older, your family doctor (pediatrician) will refer you to specialists.

• Hearing tests: An otolaryngologist and an audiologist work together to perform various tests to determine the level of the child's hearing.
• Vision tests: An ophthalmologist will examine the child's eyes, especially to check for damage to the retina, such as retinitis pigmentosa. They will also perform tests to measure peripheral vision.

What are the treatments for this?

Although this condition cannot be completely cured, there are many things you can do to manage the symptoms. Doctors plan treatment based on the child's condition, age, and severity of symptoms.

• Cochlear implants: Children who are born with severe hearing loss can be helped to hear sounds with this device, which is surgically implanted in the inner ear.
• Hearing aids: These are very useful for children with moderate hearing loss.
• Vision aids: Glasses with special lenses that filter light, and magnifying devices can be used.
• Early intervention services: This is very important. Starting speech therapy, physiotherapy, and sign language training at a young age can greatly help a child's development.

Important questions to ask your doctor

It's normal to have a lot of questions when you learn about such a rare condition. Don't be afraid or hesitant to discuss all of this with your doctor. Here are some questions you can ask:

• "How many types of Usher syndrome does my child have?"
• "What treatments do you recommend?"
• "Is it possible that my child will lose his vision completely over time?"
• "Can I be tested to see if I or my spouse have the genetic mutations that cause this?"

Our sight, hearing, and balance are three of the main senses we use to interact with the world. So as a parent, it's natural to feel worried, sad, and scared when you learn that your child is losing these things. But remember, you're not alone. There are many medical treatments, support services, and programs that can help your child. Your doctor and your medical team will understand your feelings and provide you with the guidance you need.

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