Pendred Syndrome (cont.)
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:
- avoid contact sports that might lead to
head injury;
- wear head protection when engaged in activities that might lead to head injury
(such as bicycle riding or skiing); and
- avoid situations that can lead to
barotrauma (extreme,
rapid changes in pressure), such as scuba diving or hyperbaric oxygen treatment.
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.
Next: What research is being conducted? »
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