Pendred syndrome is a rare genetic disorder that primarily causes sensorineural hearing loss and malformation of the bones in the inner ear. This condition can lead to bilateral hearing loss, meaning it affects both ears. Pendred syndrome can also affect the thyroid gland and may cause issues with balance. Because of its genetic nature, the condition is passed down through families, and it can affect individuals in varying degrees of severity. The syndrome is often diagnosed in childhood, and its symptoms can be managed with appropriate treatments and interventions.
How Does Pendred Syndrome Present at Birth?
Children born with Pendred syndrome typically begin to lose their hearing at birth or by the time they are three years old. Almost all children with Pendred syndrome experience bilateral hearing loss, meaning both ears are affected. The degree of hearing loss can vary, but it usually progresses over time. Parents and caregivers may notice that the child has difficulty responding to sounds or that speech and language development are delayed. Early detection and intervention are crucial in helping children with Pendred syndrome adapt and thrive.
How Does Pendred Syndrome Affect the Body?
Pendred syndrome is caused by a defect in the production of thyroid hormones, which are essential for regulating metabolism and controlling body growth. Although the disorder can affect thyroid function, most children with Pendred syndrome do not experience significant problems with growth or development. However, one of the most noticeable features of the syndrome is the enlargement of the thyroid gland, a condition known as a goiter. This typically develops during adolescence or early adulthood and can lead to difficulty breathing and swallowing. If the goiter causes these problems, individuals with Pendred syndrome are often referred to an endocrinologist for treatment. Pendred syndrome can also affect the vestibular system, which plays a key role in balance. This can result in balance issues and dizziness, making it important for affected individuals to receive appropriate care.
How Is Pendred Syndrome Treated?
While there is currently no cure for Pendred syndrome, various treatments are available to manage its symptoms. A team of specialists, including an audiologist, endocrinologist, geneticist, genetic counselor, otolaryngologist, and speech-language pathologist, often collaborates to create a personalized treatment plan for each individual. Early intervention is vital, and children with Pendred syndrome benefit from services such as speech therapy and learning sign language to enhance communication. Hearing aids are commonly used to amplify sounds and improve hearing, and many children with Pendred syndrome may be candidates for cochlear implants. Cochlear implants are surgically implanted devices that bypass the damaged parts of the ear and provide a sense of sound. These treatments can significantly improve the quality of life for children and adults with Pendred syndrome.
For more information about Pendred syndrome or to schedule an appointment with an expert audiologist or speech-language pathologist, call Evergreen Speech & Hearing Clinic today.