Pendred Syndrome (cont.)
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How common is Pendred syndrome?
Scientists estimate that about two to three children out of every 1,000 have early hearing loss, and about half of these cases are inherited. The SLC26A4 gene, which causes Pendred syndrome, accounts for about five to ten percent of hereditary hearing loss. As researchers gain more insight about the syndrome and its features, they hope to improve doctors' ability to detect and diagnose the disorder in people.
Can Pendred syndrome be treated?
Treatment options are available for individuals with Pendred syndrome. Because the syndrome is inherited and can involve thyroid and balance problems, many specialists may be involved in treatment. The treatment team may include a primary care physician, an audiologist, an endocrinologist, a clinical geneticist, a genetic counselor, an otolaryngologist, and a speech-language pathologist.
To reduce the likelihood of progression of hearing loss, individuals with Pendred syndrome should:
Pendred syndrome cannot be cured. However, the medical team can help parents and individuals make informed choices about treatment options. They also can help them prepare for increased hearing loss and other possible long-term consequences of the syndrome.
Children with Pendred syndrome should start early treatment to learn skills that will help them communicate, such as learning sign language or cued speech or how to use a hearing aid. Most individuals with Pendred syndrome will have hearing loss significant enough to be considered eligible for a cochlear implant. A cochlear implant is an electronic device that is surgically inserted into the cochlea. A cochlear implant does not restore or create normal hearing. Instead, a cochlear implant helps a person develop a new way of understanding speech. Children over 12 months of age as well as adults are eligible to receive an implant.
Individuals with Pendred syndrome who develop a goiter need to have it checked regularly. The goiter in Pendred syndrome is unusual because the thyroid is making the right amount of thyroid hormone but it is growing in size. Such a goiter often is called a euthyroid goiter.
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