Does your little one not flinch at loud noises? Or does he not look back when his name is called? Sometimes, behind these things, there may be a rare genetic condition that we don't even think about. That's what Pendred Syndrome is. Don't worry, today we will talk about this simply, in a way that you can understand.
What is Pendred Syndrome?
Simply put, Pendred Syndrome is a rare genetic condition . In this case, your baby may be born with a permanent hearing loss. This hearing loss often affects both ears and may get worse over time. In addition, children and young adults with Pendred Syndrome may develop a goiter , which is an enlarged thyroid gland in the neck. Sometimes, but very rarely, this goiter can also cause an underactive thyroid gland (hypothyroidism).
Imagine how hard it must be to find out that your child has this condition. But the most important thing is not to panic . Your doctor will help you manage the condition and control your child's symptoms as much as possible. They will also tell you about hearing aids that are suitable for your child, as well as communication strategies. Then the hearing loss will not be a major obstacle to your child's language skills and learning.
What are the symptoms of Pendred syndrome?
The main and most obvious symptom of this condition is hearing loss . The extent of this loss can vary from person to person. Some children can have a mild to severe hearing loss (deafness). For example, a child with a moderate hearing loss may be able to hear people talking but may not be able to understand what they are saying.
Most often, this hearing loss is present at birth, but sometimes it can appear during infancy, childhood, or even later.
Symptoms of hearing loss caused by Pendred syndrome may include:
- A small baby doesn't flinch even when it hears a loud noise.
- The baby doesn't respond when called by name.
- The baby hasn't said his first word in almost a year.
- Starting to speak later than other children of the same age.
- The child constantly asks you to "say that again."
In addition to these hearing problems, there may be several other symptoms:
- Balance issues when walking - for example, taking a while to start walking. However, this does not happen to everyone and is quite rare.
- Goiter - This is most often seen when the child is a little older, that is, during adolescence or young adulthood.
- Hypothyroidism - This is also a very rare condition.
Why does this Pendred syndrome occur?
The main cause of Pendred syndrome is a genetic mutation in a gene called `SLC26A4` . This gene helps our body make a protein called `pendrin` . This pendrin is related to both our hearing and the functioning of the thyroid gland. Did you know that the thyroid gland produces hormones that control how our body uses energy (metabolism).
So, when there is a problem with this pendrin protein, the structures in a child's inner ear that are related to hearing may not develop properly . This is what causes a condition called sensorineural hearing loss . "Sensorineural" means that this hearing loss is permanent and is caused by a problem in the inner ear itself. These problems can include:
- Enlarged Vestibular Aqueducts (EVAs) : Your vestibular aqueducts are small bony tubes that connect your inner ear to the skull. Many people who have enlarged vestibular aqueducts experience hearing loss.
- A cochlea with fewer "turns" than normal : The cochlea is the innermost part of our auditory system. It is a coiled structure, like the groove of a snail. It normally has 2 and 3/4 turns. A child with Pendred syndrome may have fewer turns in this coil than a normal person. This is also associated with hearing loss.
Also, as I mentioned before, pendrin also affects the way the thyroid gland works. So, when there are problems with the thyroid gland, it can swell (goiter) and not produce enough hormones.
How is Pendred syndrome inherited by a child?
This may seem a little complicated to understand, but let me put it simply. A child with Pendred syndrome inherits the trait in an autosomal recessive pattern . Okay, this sounds a little complicated, doesn't it? To put it simply, it's like this:
For a child to show these symptoms, they must inherit two copies of this gene mutation – one from their mother and one from their father.
In this case, both parents are carriers of the mutated gene. That is, they both have one mutated gene and one normal gene. Because of that normal gene, the parents do not develop Pendred syndrome. However, when they have a child, there is about a 25% chance that the child will develop the condition. Think of it like flipping two coins and both of them will come up heads.
How is Pendred syndrome diagnosed?
Hearing screenings are usually done in hospitals to check for hearing problems in newborns. If a hearing test suggests a hearing loss, more tests are needed to confirm the diagnosis. Only then are more specific tests done to check for Pendred syndrome. Otherwise, if you suspect your baby has a hearing problem, you can see a doctor. At this point, you will likely see an ear, nose, and throat specialist (otolaryngologist - ENT) or a genetics specialist .
The doctor will ask you questions about your child's hearing problem. For example, when did you first notice it and whether anyone in your family has had hearing problems before. Since Pendred syndrome is hereditary, it is possible that someone in your family has had it too.
These are the tests that help diagnose Pendred syndrome:
- Hearing tests : These include tests such as Otoacoustic Emissions (OAE) and Auditory Brainstem Response (ABR) . These look at the function of the inner ear and auditory pathways. As the child gets older, more tests may be done to see if the hearing loss is changing.
- Imaging scans : A CT scan or MRI scan is done to look for abnormal structures in the inner ear. For example, these scans can look for enlarged vestibular aqueducts (EVAs) or an abnormal cochlea.
- Genetic testing : Blood tests to check for the presence of the SLC26A4 gene mutation can confirm the diagnosis.
If your child has a goiter, they may also see an endocrinologist to check for thyroid problems.
How is Pendred syndrome treated?
To be honest, there is no cure for Pendred syndrome yet . However, there are many options to manage the condition. Treatment depends on many factors, such as what abnormalities are present in the child's inner ear and how severe the hearing loss is.
Treatment options for Pendred syndrome:
- Education and communication methods: The child needs to be helped to learn other ways to communicate and interact with others, not just through hearing. For example, things like sign language.
- Hearing devices : Hearing aids or a cochlear implant may be needed to help your child hear better. These devices can help significantly, at least until your child begins to hear sounds. An audiologist and an ear, nose and throat specialist will work together to recommend the best hearing technology for your child.
- Thyroid treatments : If your child has an underactive thyroid (hypothyroidism), they may need to take thyroid hormone pills (thyroid supplements). If the goiter is very large, it may need to be surgically removed (thyroidectomy).
If my child has Pendred syndrome, what should I expect?
In most cases of Pendred syndrome , hearing loss gradually gets worse (progressive hearing loss) . Some children may lose their hearing completely over time. However, the severity of this varies from person to person. Many children use hearing aids or cochlear implants to achieve near-normal hearing and live well. Your child's medical team will advise you on the best treatment options to help your child's hearing.
The most important thing is to identify this condition and start treatment as soon as possible. This way, the child can learn how to communicate with others and thrive alongside other children of his or her own age.
Pendred syndrome is a lifelong condition. However, it does not mean that the child will not be able to understand others or express their ideas.
How should I take care of my child?
If your child has Pendred syndrome, it's important to protect them from head injuries, just like any other child . For example, wearing a helmet when riding a bike can help reduce the risk of sudden hearing loss due to a head injury in an accident. Small things like these can make a big difference.
When should I see a doctor?
Let's leave aside the question of whether the cause is Pendred syndrome or something else. If you notice any changes or deficiencies in your child's hearing, you should definitely see a doctor. Because the sooner you get a diagnosis, the sooner you can manage the hearing loss and start treatment. That is very important for the child's future.
What questions should I ask my child's doctor?
When you go to see the doctor, be prepared to ask questions like these:
- Who will be part of the medical team treating my child? (e.g. ENT doctor, audiologist, geneticist)
- What are the signs that my child's hearing is getting worse?
- What are the treatment options?
- What is your suggested treatment schedule?
- What other activities can damage my child's hearing? (e.g. loud noises, certain sports)
- What resources are available to help children and parents cope with childhood hearing loss? (e.g., counseling services, support groups)
With Pendred syndrome, a child may lose the ability to hear sounds that help them connect with their surroundings. However, this does not mean that the child must avoid these interactions forever. Hearing aids can be a great help for many children with this condition. Learning communication skills at an early age can help your child be more social, no matter how much their hearing loss is. Your child's healthcare team will be able to talk to you about the steps you and your family can take to help your child. Take heart, you are not alone!
Important things to remember (Take-Home Message)
- Pendred Syndrome is a genetic condition that mainly causes hearing loss and sometimes otitis media.
- Early detection and treatment are very important. This can greatly improve the child's quality of life.
- Although there is no cure, there are ways to manage it. These include hearing aids, speech therapy, and, if necessary, thyroid treatment.
- It is essential to provide love, support, and encouragement to the child. While following medical advice, help the child live a normal, happy life.
- Protect your child from head injuries. This will reduce the chance of hearing loss worsening.
If you have any more questions about this, don't be afraid to talk to your doctor. They are always ready to help you.
` Pendred syndrome, hearing impairment, tonsillitis, genetic diseases, children's health, hearing aids, thyroid
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