12 August

Rett syndrome

What is Rett syndrome, when and how the disease develops and what are the main methods of treatment.

Rett syndrome - a severe form of autism, which occurs only in girls.It is usually diagnosed in the first two years of life, and the diagnosis sounded like a death sentence.

Although a complete cure is not possible, early detection and treatment of disease may help girls with Rett syndrome and their families.

Rett Syndrome is rare -. Only one girl from 10-15 thousand can develop this disease.In most cases, Rett syndrome develops at an early age.As early as 6-18 months begin to be changes in mental and social development.

Symptoms

Slowing head growth - the first sign of Rett syndrome.Another early symptom of the disease - loss of muscle tone.Soon, the child ceases to meaningfully own hands.Instead, the girl rubs his hands together or wringing them.

At the age of 1-4 years to degrade social and language skills.Girls no longer speak, they develop extraordinary social anxiety and autism or loss of in

terest in other people.

Rett Syndrome also causes the muscles and coordination problems.The gait becomes clumsy, trembling.There may be inconsistent breathing and convulsions.

What causes Rett syndrome

Most children with Rett syndrome a mutation of a particular gene of the X chromosome.At present, before the end of unknown cause of mutations of this gene and how it leads to Rett syndrome.There is a hypothesis that a single gene may affect many other genes involved in the development.

Although Rett syndrome - this is probably a genetic disease, a damaged gene is almost never inherited from the parents.On the contrary, it is a random mutation that occurs in the girl's own DNA.

Also accessories are not revealed to the female sex of other risk factors for Rett syndrome.

When a mutation that leads to Rett syndrome, occurs in boys, they die shortly after birth.Since the boys only one X chromosome, the disease quickly leads to a fatal outcome.

Diagnostics

Rett syndrome diagnosis is based on identifying specific symptoms and behaviors.To be diagnosed only enough of such observations.The doctor need to talk to the girl's parents to determine when these symptoms are evident.

Genetic testing can help confirm the diagnosis in 80% of girls, who are suspected of Rett syndrome.Sometimes such research can help to forecast the severity of the disease.

Treatment

There are some treatments for Rett syndrome, which focused on how to help the girl to live with this disease as best as possible.

Physiotherapy can help to improve children's mobility and speech therapy will solve some problems with speech.Rehabilitation therapy (occupational therapy) allows girls to learn how to perform daily activities: to bathe and dress themselves.

Experts believe that the therapy can definitely improve the quality of life.Sometimes it is possible to actively participate in various activities, including school fees.

Medicines can cure some of the problems associated with the movements that arise in Rett syndrome.They may also relieve spasms.However, the means for complete cure exists.

forecast Rett syndrome

Most girls with Rett syndrome live to be 30 years.Symptoms of Rett syndrome with time do not improve, the disease lasts a lifetime.

Often, over time there is either a slow worsening of symptoms, or they remain stable.Girls and women with Rett syndrome are rarely able to live independently.

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