Rett syndrome is a rare childhood neurodevelopmental disorder caused in most cases by a spontaneous mutation (a change in DNA) in the MECP2 gene, which encodes methyl-CpG-binding protein 2.
The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is necessary for brain development. The genetic abnormality prevents nerve cells in the brain from functioning properly.
It occurs in about 1 in 10 to 15,000 births, most commonly in girls and is much rarer in boys. It is a serious disability that makes almost all everyday tasks very difficult.
It has been described in all racial and ethnic groups. There is usually no family history of Rett syndrome, which means it is not passed from one generation to the next. Almost all cases (more than 99%) are spontaneous and the mutation occurs randomly.
Rett syndrome takes its name from its discoverer, the Austrian physician Andreas Rett, who was the first to describe the ailment and to study it thoroughly. Although today its symptoms are known, it can in some cases be diagnosed as autism or cerebral palsy.
Symptoms and features
Characteristics of RETT
syndrome There are no signs of abnormal child development during pregnancy and the first few months after birth. It is a type of disease that does not become evident at birth, but usually manifests itself during the second year of life, but in all cases within the first four years and at the earliest three months. This is evidenced in that the child’s development does not progress as expected and may even lose some skills.
Some of its features are:
- Delayed brain development.
- The development of the game stops.
- Further development of social skills that stop.
- Loss of speech.
- As a particular sign of Rett syndrome, we can highlight that the hands are constantly moving repetitively.
Not all children have the same symptoms and not always to the same extent. Rett syndrome is usually divided into 4 phases.
- First phase:
The first stage usually begins between 6 and 18 months of age. This stage is very often overlooked because the symptoms of the disorder can be very subtle and parents and doctors do not notice the initial mild delay in development. The child may begin to show less eye contact and have less interest in toys. There may be delays in important motor skills such as sitting or crawling. There may also be rubbing of the hands and a decrease in the growth of the head, but in many cases not marked enough to attract attention.
The second phase is experienced by most parents as the most intense phase. The child’s development stagnates and even deteriorates. Acquired skills such as speech, walking, and certain social skills are lost.
In almost all cases there is a serious mental disability: intelligence is very low.
Performing the aforementioned atypical hand movements goes up and the movements that have a specific purpose (e.g., grabbing something) are lost. The first serious physical complaints also occur, including gastrointestinal complaints and respiratory problems.
The child’s behavior changes and there are mood swings. Spontaneous and inconsolable screaming and crying can occur and it is very difficult to establish eye contact. This phase lasts several months.
- Third phase:
After the second phase, a long and stable phase occurs. This begins between 2 and 4 years and lasts on average until about 10 years. However, it also happens regularly that children remain in this phase for the rest of their lives.
Progress can be seen in the child during the third phase. The degree of progress depends on the case. When the child has already learned many skills before the second phase, the chance of good progress is greater. In the third phase, however, quite serious symptoms such as epileptic seizures, spinal fusion (scoliosis) and motor problems will occur.
Previous symptoms such as gastrointestinal discomfort and respiratory problems may also occur.
- Fourth phase:
The fourth phase usually occurs after the tenth year of life. Not everyone who has Rett will go through this phase. The fourth phase is characterized by a new decline, especially in the motor field. There is stiffness, increased muscle tension and further development of scoliosis. Intensive therapy can reduce symptoms.
Mental improvement is often possible. Epileptic seizures, in particular, occur less frequently and are easier to control with medication. The phase mentioned above is only a global picture of Rett syndrome. The course may vary per person in duration and severity. In addition, symptoms also differ per person in terms of their onset and severity.
In addition to the syndrome itself, this usually brings with it a series of other disorders that must be treated specifically. These can be:
- Neurological pathologies
- Autonomic dysfunction
- Behavioral disorders
- Sleep disorders
- Osteopenia or bone fragility
- Kyphosis and/or scoliosis
- Bruxism and other oral disorders
- Pathological respiratory pattern
- Cardiological alteration
- Gastrointestinal disorders
- Delayed physical development
Rett syndrome has no cure and treatment of the disorder is symptomatic The most effective treatment for Rett syndrome is carried out by a medical team composed of physiotherapists, occupational therapists and speech therapists. Often surgeries are also necessary. Most people with Rett syndrome need full dedication and special education programs.
Nutritional support may be needed to help affected children maintain their weight.
Drug treatment is aimed at preventing seizures and other neurological problems. Lately, gene therapy and stem cell therapy are also being applied, solutions that have ignited hope in many parents.
Rett syndrome is not a degenerative disorder. It is not necessarily the case that bodily functions gradually decline. Intensive treatment and support are essential for learning ability, social development, and recovery and skill acquisition after the regression phase.
It is important to try little by little to put aside the frustration and try to work step by step and get small advances that for your child and for you as his family are great achievements and satisfactions.
All the information we give you in this article is indicative as each child and each family is different and unique.
Carolina González Ramos
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