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Rett syndrome, which is seen in 1 in 10,000-23,000 worldwide, is often confused with autism. We have covered everything you need to know about Rett syndrome in this article so that you can find out the truth.
What is Rett syndrome?
Rett syndrome is one of the common developmental disorders in childhood. Although it is sometimes confused with autism, it is actually different from each other, it is evaluated only in the category and some of its symptoms are similar.
Rett syndrome is a problem that often occurs in girls. It is very rare in boys and male fetuses with this problem usually die in the womb. In Rett syndrome, which is basically a neurological problem, the baby shows the expected developmental features until the 5th month. Head circumference develops normally, fine and gross motor skills progress according to the month, responds to sounds, can engage in social communication.
However, after the 6th month, his development regressed and 12.-18. It starts to become visible in months. It continues to progress with serious problems until the age of 5.
After this process, children not only do not show the expected developmental characteristics, but also begin to forget the skills they have learned. Now Rett syndrome begins to show itself well.
Causes of Rett syndrome
No definite information has yet been found for the causative agent of Rett syndrome. However, there are some indications that the disease is inherited. In other words, there is a high probability that Rett syndrome may have arisen due to genetic mutations in the Y chromosome.
What are the symptoms of Rett syndrome?
- Slowing of head growth
- loss of dexterity,
- perception difficulties,
- Frequent repetition of some manual skills (such as clapping, bringing the hand to the mouth)
- Weakening language development, forgetting even learned words,
- Constant shaking of the trunk (especially when stressed or upset)
- Gait disorder, cautious gait as if you are constantly falling,
- breath-holding or inability to breathe
- Swallowing air and bloating in the abdomen
- teeth grinding,
- Muscular dystrophy,
- Scoliosis,
- Sleep disorders, waking up with screams
- Long and unstoppable fits of laughter or screaming
- abnormal movements,
- Decreased pain sensitivity
- Loss of social communication.
What are the stages of Rett syndrome?
Rett Syndrome is examined in 4 stages that develop in different age ranges. We have explained these phases in the table below.
| phases | Emerging issues |
|---|---|
| 1- Pause phase (6-18 months) | Developmental arrest, impaired eye contact, loss of communication, decreased interest in play, slowed head growth rate. |
| 2- Rapid destruction phase (1-4 years) | Impairment of development, loss of hand use, gait disturbance, irregular breathing, seizures, autistic features, mental retardation. |
| 3- Pseudo-stationary stage (2-10 years) | Mental retardation, decreased autistic features, marked gait disturbance, gross motor development disorder, seizures. |
| 4- Late motor deterioration stage (5-25 years old) | Decreased mobility, spastic features, scoliosis, improvement of emotional communication, deterioration of nutrition and related weakness (cachexia), developmental delay, blank stares. |
How is Rett Syndrome diagnosed?
Developmental disorders that patients with Rett syndrome usually experience in the early stages are evaluated. The problem of the patients who consult the experts with these problems cannot be determined immediately in the first stage. It is often confused with autism. In addition, the fact that Rett syndrome is much rarer than other developmental disorders can make diagnosis difficult.
Physical problems added to developmental disorders in the future increase the possibility of Rett syndrome. Diagnosis of respiratory disorders and scoliosis accompanying developmental delay also helps in diagnosis. To make the correct diagnosis, the patient’s entire body must be evaluated.
Apart from these, the presence of Rett syndrome can be detected by genetic tests.
Is Rett syndrome understandable in the womb?
No, Rett syndrome is not understood in the womb. As we mentioned above, this problem does not show itself even in the first months of the baby.
How is Rett syndrome treated?
Unfortunately, there is no treatment method to eliminate this problem yet. Psychologist Nilüfer Şişman says that the latest developments in the treatment of Rett syndrome are on gene studies. In these studies, it is aimed to make changes on the mutated genes. Although this is a promising study, a clear result has not yet been obtained.
In the treatment of Rett syndrome, it is usually aimed to solve the problems that arise separately. As an example of these;
- Coping with stomach, intestinal and nutritional problems,
- Solving the scoliosis problem with surgery,
- Increasing the patient’s communication skills,
- Physical therapy and rehabilitation,
- Antipsychotic use (drugs used for diseases such as schizophrenia, bipolar disorder),
- Beta blocker use (drugs that relieve conditions such as stress, irritability),
- Solving sleep problems (You can try for a calmer sleep,
- We can give treatment methods such as educating parents.
What is the quality of life of children with Rett Syndrome?
Unfortunately, children with Rett Syndrome face various health problems throughout their lives. Complaints may be reduced from time to time, if treatment is provided for the problems.
The average life span of children with Rett Syndrome has been determined, but sudden deaths may occur around the age of 7-35 due to developing health problems. But these values are average values, there are also patients who died at the age of 78.
