Treatments For Treacher Collins Syndrome

Treacher Collins syndrome is a genetic disorder characterized by eye, cheekbone, and ear deformities. The disorder can affect individuals on a sliding scale of severity, so some patients will have mild cases while others will have severe cases. Treacher Collins syndrome can cause issues such as cleft palate, breathing problems, and speech problems. Usually, the disorder does not cause deficits in intelligence.

Treacher Collins syndrome is an autosomal dominant trait most commonly caused by a genetic mutation rather than through inheritance, and it is usually diagnosed through x-ray imaging and genetic testing. Currently, the disorder is not curable, but its symptoms can be managed.

Speech Therapy

Treacher Collins syndrome can cause severe malformations of the mouth, and it can cause the ears to malfunction. This can make it extremely hard for a patient with Treacher Collins syndrome to speak, which is when speech therapy can become an important piece of treatment. A speech-language pathologist can help find deficiencies in the patient's speech by interviewing and assessing the individual.

Afterward, the speech therapist will come up with a treatment plan to help their patient cultivate and improve their language skills. This usually involves learning how to make and understand language sounds along with other related tasks. This treatment could last a short or long time depending on the needs of each patient.

Orthodontic And Dental Work

Treacher Collins syndrome can cause mild or severe deformities of the oral cavity, which can lead to decreased dental health. There may not be enough space for the patient's teeth, or the teeth may be squeezed closely together in a fashion that damages them and causes the individual pain. In either case, orthodontic and dental work is often necessary to help a patient with this disorder.

An orthodontist will be able to realign the teeth through methods such as braces and wires. A dentist will provide general dental care. In some cases, an individual with Treacher Collins syndrome may need oral surgery to alleviate dental problems. In any case, dental and orthodontic work will likely aid in treatment in other areas, such as speech.

Hearing Aids

Treacher Collins syndrome can cause many ear deformities. Sometimes, the ear will be misshapen, and sometimes, the auditory canal can be blocked or narrowed. These malformations tend to cause hearing impairment in patients with the disorder. In such cases, hearing aids may be needed. These will allow the individual to hear better by amplifying the sound. It can help overcome many of the deformities and hearing deficiencies caused by Treacher Collins syndrome. By getting a hearing aid, an individual will also likely have an improved speech ability too, so this treatment method can impact other areas of importance as well.

Genetic Counseling

Since Treacher Collins syndrome is a genetic condition, finding a medical professional who specializes in genetics is important. Genetic counseling will provide patients with tons of information regarding the disorder and advice on the best way to approach it. The genetic counselor will likely run some testing to determine the cause of the disorder; although in some cases, it is impossible to narrow down a specific genetic cause for Treacher Collins syndrome. The genetic testing can be done as early as fourteen weeks after conception. From there, the counselor will explain the disorder, what to expect, and how to treat it. This will allow parent(s) time to plan for treatments and organize treatments for the future.

Rhinoplasty

In patients with Treacher Collins syndrome, surgical intervention often begins with a focus on preserving the airways. One of the procedures that can be done to do this is a rhinoplasty. Rhinoplasties are commonly referred to as nose jobs and are usually used by individuals to improve their appearance. In the case of Treacher Collins syndrome, however, the surgery is done for reasons that are not purely cosmetic. When the nose is deformed, individuals may have extreme difficulty breathing, which is a problem that must be fixed. This procedure can solve that problem somewhat quickly and efficiently before any damage related to low oxygen levels can be done.