Rett Syndrome – What is it, Causes and Treatments

Rett Syndrome – What is it, Causes and Treatments of this condition that many are unaware of. In addition,  Rett Syndrome  is a rare, non-hereditary genetic disease that affects, in the overwhelming majority of cases, females and the way their brains develop.

Most babies with Rett Syndrome  seem to develop normally within the first few months of life, but after the 6th month, the first symptoms of Rett Syndrome  begin to appear. Over time, children born with Rett Syndrome will develop increasing problems with movement, coordination and communication, which can even impair their ability to use their hands, walk and communicate with others.

Causes of Rett Syndrome: Rett  Syndrome is caused by about 200 genetic mutations that occur on the X sex chromosome, more specifically in the MECP2 gene, at approximately eight specific points in this gene. Also, Rett Syndrome can rarely be hereditary. The genetic mutations that cause Rett Syndrome usually occur spontaneously and randomly.

Stages of Rett Syndrome: Rett  Syndrome is typically divided into four main stages:

Stage I: In this early stage of Rett Syndrome , the signs and symptoms are subtle and begin between six and 18 months of age. Babies with Rett Syndrome at  this stage may make less eye contact and begin to lose interest in toys and have delays in learning to sit or crawl.

Stage II: From the first to fourth year of age, children with Rett Syndrome gradually lose the ability to speak and use their hands purposefully. In their place, repetitive and involuntary hand movements begin to appear.

At this stage, some children with Rett Syndrome tend to hold their breath or breathe too fast, as well as scream or cry for no apparent reason. It is often difficult for them to move on their own.

Stage III: The third stage of Rett Syndrome usually starts between two and ten years of age and can last for a long time. Here, the problems with movement continue, but the behavior tends to improve.

Children with Rett Syndrome at  this stage often cry less and become less irritable. In addition, there is also an increase in eye contact, in which they start to reuse their eyes and also their hands to communicate.

Stage IV: The last stage of Rett Syndrome  is marked by reduced mobility, muscle weakness and scoliosis. Understanding, communication and hand movement skills generally do not deteriorate during this stage. In fact, repetitive hand movements can even decrease. However, the risk of sudden death is higher at this stage.

Rett Syndrome Treatments:  There is currently no cure for Rett Syndrome . However, children can be treated for some of the problems associated with Rett Syndrome . These treatments are usually aimed at reducing loss of abilities, improving or preserving movement, and encouraging communication and social contact.

People with Rett Syndrome often benefit from treatment with a team of specialists that may include physical therapists, occupational therapists and speech therapists.

Other treatment options for Rett Syndrome , such as medication for colds or heart problems, or surgery to correct heart defects or correct the spine, are also effective in treating some of the symptoms of Rett Syndrome.

Rett Syndrome Complications:  The main complications that can occur in Rett Syndrome are:

  • severe seizures;
  • Scoliosis requiring surgery;
  • Difficulty eating, which can cause poor nutrition
  • Movement problems, such as irregular hand movements
  • Osteoporosis and chances of fractures and falls;
  • Short lifespan and sudden death;
  • Sleep problems, sleeping during the day and waking up at night.

Prevention For Rett Syndrome: Rett  Syndrome is a rare genetic disease that still cannot be prevented. The ideal is to prevent the worsening of the symptoms of Rett Syndrome  through the most appropriate treatment, since there are many possible complications with Rett Syndrome , for example, arrhythmias, convulsions, scoliosis and osteoporosis.

Finally, sudden death is a reality for patients with Rett Syndrome , so performing the treatment in the best possible way and ensuring good medical follow-up are fundamental measures for those who suffer from Rett Syndrome .

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