Pendred syndrome is a rare genetic disorder that causes severe to profound sensorineural hearing loss and malformation of the bones in the inner ear. In some cases, it can affect the thyroid gland and affect balance. While experts are unsure exactly how common Pendred syndrome is, estimates show it accounts for 5-10% of cases of hereditary hearing loss.
How Pendred Syndrome Presents at Birth
Children born with Pendred syndrome often begin to lose their hearing at birth or by the time they are three years old. For some, the loss of hearing occurs suddenly. While it’s typically the case that hearing worsens over time with the end result being total deafness, some with the condition do regain some of their hearing later in life.
Almost all children who have Pendred syndrome have bilateral hearing loss, meaning there is a loss in both ears.
How Does Pendred Syndrome Affect the Body?
Pendred syndrome is the result of a defect in the production of thyroid hormones, which controls metabolism and regulates body growth. However, children with Pendred syndrome rarely have problems with growth and development, even if the thyroid is affected.
This syndrome can cause the thyroid gland to grow larger, which is called a goiter. Goiters usually develop sometime during adolescence or early adulthood. If it becomes too large, it can affect breathing and swallowing. When this is the case, the affected person is often referred to an endocrinologist.
Pendred syndrome also affects the vestibular system, which is what helps you balance. While this may cause delays in walking for babies with Pendred, most grow up with mild symptoms that don’t affect mobility.
How Is Pendred Syndrome Treated?
There is no cure for Pendred syndrome, but there are many options available to treat symptoms. Oftentimes a person with Pendred syndrome will see many specialists in their lifetime, including an audiologist, endocrinologist, geneticist, genetic counselor, otolaryngologist and speech-language pathologist.
It’s important for children with Pendred syndrome to access intervention services like learning sign language and using a hearing aid right away. Studies have shown that early intervention yields the best results for speech-language, social and academic development at a Lake Washington district school. Many children with Pendred syndrome are candidates for cochlear implants, which are surgically implanted devices that bypass the damaged parts of the ear to help you hear.
For more information about Pendred syndrome or to schedule an appointment with an expert audiologist or speech-language pathologist, call Evergreen Speech & Hearing today.