Treatment Approaches For Noonan Syndrome

Noonan syndrome is a genetic disorder that, while it is not always immediately identified, an individual is born with. The syndrome varies in severity and therefore is not always diagnosed. About half the number of patients who are diagnosed with the syndrome have a parent who has the disorder, so it can be inherited. This means a new mutation of a gene afflicted the rest of the patients. Noonan syndrome causes facial deformities, growth and development problems, and heart defects. Even though a damaged gene cannot be repaired, there are some ways to minimize the symptoms and conditions Noonan syndrome can cause. It is important to know any treatment will have greater success when started as early as possible. The following are some treatment approaches for Noonan syndrome.

Physical And Speech Therapy

Because Noonan syndrome causes facial deformity, weak muscles, and physical impairments, physical and speech therapy will probably be part of a treatment plan. Speech therapy can help patients build up muscles that are weak because of the syndrome and learn to function with their disability. This will help with speech problems and help others understand the patient's speech better. In more severe cases identified shortly after birth, the weakened muscles can lead to a problem with feeding, which can result in the baby being fed through a feeding tube. Physical therapy will help increase muscle strength by doing certain exercises. It will also teach patients how to use stronger muscles to support weaker muscles. Seeing a licensed speech therapist and physical therapist can help patients manage the disorder and provide them with more independence. It is important to seek professional help so patients know they are doing the appropriate exercises and doing them correctly.

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Growth Hormone Therapy

As a newborn, a child with Noonan syndrome will be of normal weight and height. However, over time, they will begin to fall behind on their milestones, including when they go through puberty. Early diagnosis of the syndrome can mean a better result for treatments attempted. One such treatment is growth hormone therapy, which will help increase height, which is affected by the disorder. A doctor will have to test the patient's growth hormone levels. This is especially important when the patient is a child because it will get the best results. Growth hormone therapy has been shown to increase height by five inches in some patients. The therapy will include being given injections, usually on a daily basis. Doctors will monitor a patient's growth hormones so they are not receiving too much, which can cause side effects.

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Heart Medication Or Surgery

Noonan syndrome can negatively affect the heart, causing pulmonary stenosis, hypertrophic cardiomyopathy, septal defects, or an irregular heartbeat. These conditions are caused by the malformation of parts of the heart. Heart medication or surgery are some of the options patients have if they are suffering from the impact Noonan syndrome has on the heart. Sometimes the only way to fix these issues is to have surgery to augment the structure of the heart and provide support where it is needed. Depending on the severity of the defect, the condition may only need to be monitored or managed with medication. However, there are conditions caused by Noonan syndrome that get bad enough that surgery is needed to correct them. Any heart issues should be monitored and evaluated from childhood through adulthood. Proper monitoring will result in the doctor seeing any change in condition and being able to adjust medication or suggest therapy if needed.

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Treatment For Vision Issues

There are several conditions caused by Noonan syndrome that affect the eyes, like amblyopia, increased distance between eyes, problems with the eyelids, or strabismus. The abnormalities caused by the syndrome can require surgery or other interventions. The abnormalities can affect the aesthetics, the internal structures, and the external structures of the eyes. Many times, doctors can create a treatment for vision issues, including using glasses to help correct the patient's vision. However, if cataracts develop, surgery might be needed. It is important to get vision testing done on a regular basis, so if there are any changes, they can be dealt with early. Early intervention is important when treating most issues caused by Noonan syndrome.

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Regular Hearing Screening And Treatment

As with many other problems that can happen because of Noonan syndrome, the structural components or nerves of the ear can be affected, and any ear abnormalities can cause problems with hearing. Nerve damage of the ear can cause hearing loss, or structural malformations can affect the way the brain perceives sound. It is important for patients diagnosed with Noonan syndrome to have regular hearing screening and treatment. They want to be able to address any issues and try to get the appropriate treatments. Treatments can include hearing aids for mild to moderate hearing loss. The hearing loss needs to be evaluated by a specialist because it can affect speech and development.