User talk:Jleitner28

What Is Rett Syndrome?

Rett Syndrome is defined as a disorder of the nervous system. This disorder causes developmental reversals that affect hand use and a person expressive language skills. This disorder is caused by a mutation in the methl-CpG-binding protein 2, also know as MECP2. This is a gene that is found on the X Chromosome. This mutation is so powerful that since male fetuses have only one X Chromosome it causes miscarriages, stillbirths, or worst of all, an early death. However, since females have two X Chromosomes, the mutation only takes affect on one of the chromosomes which allows the other chromosome to take over and allows the child to survive. The disorder is most commonly mistaken to be autism or cerebral palsy because of the similarities between the two disorders.

Symptoms

The child does not start to show any sign of Rett Syndrome until the ages of 6-18 months old. The symptoms that I have found in my research of the topic are as follows:

Hypotonia (floppy arms and legs) -- frequently the first sign Slowing head growth beginning at approximately 5 - 6 months of age Change in development Severe language development problems Loss of purposeful hand movements; for example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth Apraxia Shaky, unsteady, or stiff gait; or toe walking Loss of social engagement Seizures Breathing problems -- problems tend to get worse with stress; breathing is usually normal during sleep and abnormal while awake Scoliosis Loss of normal sleep patterns Poor circulation that can lead to cold and bluish arms and legs Intellectual disabilities and learning difficulties (assessing cognitive skills in those with Rett syndrome, however, is difficult because of the speech and hand motion abnormalities) Gastrointestinal problems including ongoing, severe constipation and gastroesophageal reflux (GERD) Excessive saliva and drooling As found on: www.healthline.com

Stages

Just like any disorder, Rett Syndrome has stages in which it develops from mild to severe. With Rett Syndrome the first stage is called Early Onset, doctors have discovered that this happens between the ages of 6-18 months. This is the stage that is somewhat unclear to doctors and parents because the slowing of development is not that noticeable for a while. Children in the Early Onset stage may have troubles with crawling, standing, or walking. They also begin to start hand wringing, which is a motion in which a child rubs their hands together in fast motions. Another part of the stage that is rarely noticed right away because it happens so slowly is a decrease in head growth. This stage can go on anywhere from a couple months to over a year. The second stage of Rett syndrome is known as Rapid Destructive. This is the stage that may only last a week, but could however last for months. Between the ages of 1-4 years of age children begin to lose “purposeful hand motions” and “spoken language” use. The child suffering from this disorder begins to move their hands back and forth from the mouth and also start hand wringing, clapping, or the tapping of the hands. The child also begins to rapidly grabbing and releasing their hands while standing with their hands behind them or to their sides. They also begin to randomly touch things without control. Although these problems subside while the child sleeps, other problems come alive when the child sleeps. These problems include episodes of sleep apnea or hyperventilation even though breathing is usually normal. Other occurrences that may happen during this stage are the loss of public interactions and communications. The slowing of the head growth is also noticed during this stage. Plateau is the third stage of this unfortunate disorder. Between the ages of 2-10 years of age is when this stage usually occurs and can last for years. There are many problems that appear during this stage such as: Apraxia, motor problems, and seizures. These problems become very prominent during this stage of the disorder and persist throughout the child’s life. Although these problems are persistent, there are some improvements that do take place. These improvements consist of their behaviors, their irritability, and their autistic-like features. Children also begin to show more of an interest in their surroundings, as well as their alertness, and also their communication continues to improve. These improvements tend to stay with the child for the rest of her life. The fourth and final stage of this disorder is known as, Late Motor Deterioration. This is the stage that causes reduced mobility and is what stay with the child for the rest of her life. The children who were once able to walk will no longer be able to walk during this stage. The reason for this is because the disorder begins to affect their muscles in many different ways, all which are very noticeable. Weakness, stiffness, increased muscle tone with abnormal posturing of extremity or trunk, and scoliosis are the main muscle problems that begin during this stage. This is what causes the child to not be able to walk, crawl, or hold on to items such as toys for more than a couple of seconds. However, their eyes begin to be able to focus more than before, but they do continue the repeated hand motions.

The Founder of Rett Syndrome

The person responsible for the discovery of this disorder is Dr. Andreas Rett. He first wrote of the disorder in a journal article back in 1966 after observing to young girls that had came into his office. However, it was not until another journal article was published in 1983, that the disorder was actually recognized.

Is It Inherited?

One of the main questions asked when a child is diagnosed with Rett Syndrome is “Did I give this to my daughter?”. The answer to that question is no! Although it is a mutation of the X Chromosome gene, the mutation is random and happens during spermatogenesis. They have also found that less than 1 % of the cases where inherited. So parents, please, do not think that you caused your child to have this disorder!

Diagnosis & Treatments

Rett Syndrome is usually diagnosed by doctors observing a child’s development and growth during the first years of life. They also chart a child’s neurological and physical development. However, now scientists have developed a test in which you can find out whether or not the child will have the disorder while they are still quite young. They do this by conducting a genetic test and targeting the MECP2 mutation on the X Chromosome. Although doctors are able to test a child for the disorder, there are unfortunately no cures for the disorder. The doctors may however prescribe medications for the seizures that may take place, as well as, medication for breathing difficulties.

Severity of the Disorder

The severity of the disorder does vary. This is because some of the children may experience the symptoms from birth whereas, others may experience them at a later time. Another major factor in the severity of the each child’s case depends on the process of X Inactivation. This process is where each cell is left with only one active X Chromosome in which a percentage of cells that has a normal copy of the mutated gene after X Inactivation takes place. So if during the process it turns off the X Chromosome that carried the defected gene in a large proportion or cells, then the symptoms of the disorder will be mild. But, if a larger percentage of the cells have the X Chromosome with the normal mutated gene turned off, the onset stage of the disorder will happen in the beginning of their life and the symptoms will be severe.

What is the Life Expectancy?

The life expectancy of a child with Rett Syndrome varies as much as it does with any other disorder. However, although there are so many difficulties with the disorder, the children continue to live well into middle-age. However, since the disorder is so rare, there is hardly any information about their life expectancy.

Support for the Parents of the Children with the Disorder

As any normal parent would, if your child is suffering from Rett Syndrome you may feel alone. But, there are support groups available to help you deal with your child as well as the stages and other things that will occur during the life of your child. One of the groups I have found while researching is: International Rett Syndrome Association - www.rettsyndrome.org.

Jleitner28 (talk) 08:27, 27 February 2009 (UTC)

http://www.rsrt.org/curing-Rett/ http://www.ninds.nih.gov/disorders/rett/detail_rett.htm http://www.healthline.com/adamcontent/rett-syndrome/2