Rett Syndrome Information: All There Is To Know on Rett’s

Rett Syndrome is a condition that is classified as a neurodevelopmental disorder and affects the specific grey matter found in the brain of a person. Retts, as the condition is often known, occurs to girls in the vast majority of cases and has a certain set of symptoms to identify the problem. Areas of the body, such as the head, hands, and feet grow at a lowered pace. These smaller sized features common to Rett Disorder have a few direct effects on the girl that is affected. By learning all of the necessary information about Rett Disorder, a patient and family can learn the best way to deal with the disorder.

Other than the smaller bodily features, there are a few other common signs among sufferers of the condition. Most of the girls will perform repetitive movements with their hands. This behavior of Retts can include putting hands in the mouth or continuously wringing the hands. Another characteristic common to girls with Rett Disorder is that they have problems with the gastrointestinal system. Epilepsy is found in approximately four out of five Retts patients. In addition to these complications, most patients will also display scoliosis, constipation, and will not be able to engage in verbal communication.

Research efforts have found the direct cause for Rett Syndrome. Retts occurs due to a mutation of the MECP2 gene in the vast majority of cases. However, a mutation in the FOXG1 or CDKL5 genes do account for the cause of 10% of Retts cases. Generally, these mutations are not inherited from the parents as most of the parents are otherwise healthy and do not have Retts. Rett Syndrome can also occur due to a germline mutation. One of the reasons that only girls have Retts is that the male fetuses that have the condition will often not survive to the delivery date. Male fetuses with the mutations do not have the natural ability to bind proteins. This function is essential to life and is why the fetuses with Retts do not make it to term.

Unfortunately, there is no known cure for Rett Syndrome. However, scientists are researching ways to restore the proper function of the MECP2 gene for Rett Syndrome patients. If this action is found to be possible, it may also be possible to reverse the damage caused by Retts. Treatment of Rett Syndrome often requires constant supervision and making sure dietary intake is healthy to prevent sudden weight gain or loss. Also, certain medications are used to treat the various symptoms of Retts, such as epilepsy. Anti-psychotic medication and selective serotonin reuptake inhibitors are commonly used to prevent the patient from doing any harm to themselves or others. Because of the severe problems causes by Rett Syndrome, physical and speech therapy are usually needed to improve the patient’s ability to communicate.