Rett syndrome is rare brain disorder affect mostly girls. It can be diagnosed in the early two years and is known that the individuals feel a condition of overwhelming. There is no treatment for rett syndrome but it is known that early identification of the syndrome may help the girls and their families to make it less severe.
Who Gets Rett Syndrome?
Rett syndrome is entirely related to the genetics and mostly affects the girls. As it is known that the syndrome is rare only one in each 10 thousand to 15 thousand girls are known to develop the syndrome. Diagnosis is difficult because in most of the cases the affected individual develops normally in their early stages of life. The condition become less intense at the very first but they start to develop and become critical between 6 and 18 months. After this changes in the social and mental pattern begins.
Symptoms of Rett Syndrome
Initially the detection is very difficult but slowing down of the growth of head is the first symptom of the Rett syndrome. In addition to this reduction in the muscle tone is also a symptom of rett syndrome. Soon after this the child loses the movement of hands such as any purposeful use of their hands. Additionally she develops habit of rubbing hands together or wrings her hands.
After the development of these initial syndromes between ages 1 to 4 language and social skill of a girl deteriorate. With the growing age she loses interest in social activities and stop talking with the people whom she met daily and develop social anxiety.
Rett syndrome also induce problems related to muscle coordination. Due to jerky, shaky and stiff legged gait the walking becomes awkward. Additionally a girl having rett syndrome develops seizures and uncoordinated breathing.
Causes of Rett Syndrome
It is reported that most of the affected individuals with rett syndrome may have a possible mutation in the gene located on X chromosome. It is unclear that what is the function of this gene and what factors leads to mutation and what affects it imparts after mutations. It is known that a single gene can influence many genes which are involved in the process of development.
It seems quite fascinating that despite of the fact that it is genetic the gene is never known to be inherited by the parents. Rather it happens due to faulty genes in the DNA of the girl itself. No risk factors are known for this disease except female. And the treatment through a proper channel has not been developed yet.
It is known that if a boy develop a rett syndrome he die soon after birth. This is just because that a boy have only one X chromosome the condition become more critical and it became dangerous and death occur.
How Is Rett Syndrome Diagnosed?
The diagnosis only depends on the condition of a girl and symptoms. This is the only way to diagnose rett syndrome. Dialogue between doctors and girls patterns will help you to determine the disease conditions.
Genes testing help to locate the disease and it is confirmed in more than 80% cases that gene mutation causes the rett syndrome.
Treatments for Rett Syndrome
Treatments are available which help a girl to live a better life. To improve mobility physical therapy can be done, language problems can be treated with speech therapy and to perform daily activities occupational therapy is advisable. The occupational therapy may include washing and dressing.
The expert’s conclude that therapy helps girls having rett syndrome to live better life, normal life is never possible but therapy will help in improvement of living standard. You can improve co-curricular activities of affected individuals such as in school and improve their social interaction.
Movements in rett syndrome can also be treated by some medicines. Medications are used to treat and control seizures. But unfortunately there is not even a single care reported for rett syndrome.
What are the Expectations with Rett Syndrome
According to one estimate the girls with rett syndrome live at least to their middle age. Research is going on to develop new methods to get rid of syndrome for this purpose scientists are continuously monitoring girls with rett syndrome.
The symptoms of rett syndrome not usually progress with time but it is lifelong condition. Symptoms remain stable with the passage of time. Women and girls having rett syndrome don’t live independently as they have several intellectual, behavioral and structural deformities.
Stages of Rett Syndrome
Four stages of rett syndrome are known:
Stage I: it is normally called as an early onset and starts between 6 and 18 months. This stage is normally overlooked because symptoms are not properly developed and most of the parents and doctors don’t notice them.
Stage II: it is normally called as rapid destructive stage starts between ages of 1 and 4 which may last for months. It can be easily identified because individual starts loosing purposeful skills and speaking ability disrupted.
Stage III: it is normally known as pseudo stationary or plateau stage and starts between ages 2 and 10 and may last for years. Seizures, apraxia and motor problems are easily detected during this stage. But it is also known that improvement in behavior can be easily seen during this stage. The girls start developing communication skills and with the passage of time came to know that how they can respond to certain situation and how they can convey their message.
Stage IV: it is called late motor deterioration stage, it can be longer and may last for years. The common symptoms are the reduction in mobility, muscle weakness, spasticity, curvature of spine, rigidity and abnormal posturing of legs and arms. At the extreme condition girls who were initially walking stop walking.
There is no cure known for rett disease but it doesn’t mean that you will not survive you can cope with the disease by your natural instinct behavior and can induce the habit to communicate with other people.