Rett syndrome: what it is, causes, symptoms and treatment

One of the neurological diseases that suffer a greater percentage of women, is the Rett syndrome that although well known, is still an unknown on many occasions for those who suffer from it. Let's see below about the Rett Syndrome: what it is, causes, symptoms and treatment.

What is Rett syndrome? /span>

Rett syndrome is a neurological disease that mainly affects women and represents one of the most common causes of severe female intellectual disability . The estimated incidence is one per 10,000 girls born.

The classic form of the disease is characterized by apparently normal development during the first 6-18 months of life , followed by slow development and regression of mental and physical capacity, with decrease in the ability to socialize and the appearance of stereotyped movements, especially of the hands. Other manifestations are usually associated with the disease include difficulty walking and voluntary movements, respiratory disorders (apneas and alternate hyperventilation), muscular hypotonia, scoliosis, osteopenia, epilepsy, bruxism, constipation and cold extremities.

The four clinical stages of Rett syndrome

Phase 1 between 6 and 18 months. Duration: months

Deceleration and stagnation of psychomotor development until then normal. The lack of attention appears towards the environment and towards the game. Although hands are still used functionally, the first sporadic stereotypes emerge. Decreases the growth of the head circumference.

Phase 2 From 18 months to three years. Duration: weeks, months

Rapid development regression, loss of acquired skills, irritability, insomnia, impaired gait. Autistic manifestations appear, loss of expressive language and functional use of the hands accompanied by stereotyped movements, self-injurious behavior. Regression can be sudden or slow and gradual.

Stage 3 stationary pseudostate. Duration: months, years

After the regression phase, the development stabilizes. The autistic aspects diminish and the emotional contact with the surrounding environment recovers. Poor muscle coordination accompanied by frequent epileptic seizures.

Phase 4 approximately after 10 years. Duration: years

Improve emotional contact. Epileptic seizures are more controllable. Weakness, atrophy, spasticity and scoliosis prevent many girls from walking. Often the feet are cold, blue and swollen due to trophism problems.

The disease undoubtedly generates many difficulties related to numerous disadvantages. However, it is necessary to clarify that the evolutionary image of pathology never follows a preordained path for all subjects. The clinical images of deterioration, improvement or stasis of the pathological evolution are variable and different from each other.

The causes of Rett syndrome

  • In general, the cause of Rett syndrome is sporadic >, that is, the genetic defect arises spontaneously and is not present in healthy parents. It is estimated that about 95% of cases of classic Rett syndrome is caused by mutations in the MECP2 gene located on the X chromosome.To date, however, these three genes do not explain all cases of Rett's clinical diagnosis, suggesting that no genes have yet been identified that could cause this syndrome.

Symptoms of Rett Syndrome

Girls with Rett syndrome usually arise after a normal gestation period. During the first six months of life, many of them seem to grow and behave normally; however, after this period, the symptoms and signs of Rett syndrome begin to appear.

The most obvious changes, in general, occur around 12-18 months of age, over a period of time. weeks or months. Symptoms of Rett syndrome include:

  • Deceleration of brain development after birth. Normally, girls with Rett syndrome have a smaller head, which becomes apparent after 6 months of age. During the growth of the child, there is also an evident delay in the development of other parts of the body.
  • Loss of normal movements and coordination: loss of the most common movement skills (motor skills), usually occurs between 12 and 18 months of age. Early signs often include a reduction in hand control and a reduction in the ability to crawl or walk normally. At first, the loss of these abilities occurs quickly, then continues gradually.
  • Loss of communication and thinking skills: Children with Rett syndrome usually begin to lose the ability to talk and communicate in other ways. They can be disinterested towards others, towards toys and their environment. Rapid changes occur in some children, such as sudden loss of speech. Over time, most children gradually resume eye contact and develop non-verbal communication skills.
  • Abnormal movements of the hands : in the progression phase of the disease , children affected by Rett syndrome develop a particular way of moving their hands, which includes turning the hands, squeezing, hitting or rubbing them.
  • Abnormal eye movement: Children with Rett syndrome tend to move their eyes abnormally. For example, they can look for a long time, blink or close one eye at a time.
  • Breathing problems: such as apnea, hyperventilation, forced expiration of air or saliva. These problems tend to occur during waking hours, but not during sleep.
  • Irritability : girls with Rett syndrome become particularly agitated and irritated during the growth period . Sudden periods of crying or screaming can happen suddenly, which can last for hours.
  • Abnormal behavior : can include sudden and strange facial expressions and long laughter attacks, cries that occur for no apparent reason, or for girls to lick their hands or touch their hair or clothes.
  • Epileptic seizures : most children affected by Rett syndrome experience epileptic seizures during his life.It can also intervene with specific therapies (physical therapy, cognitive therapy, speech therapy, music therapy, hippotherapy, etc.) to try to optimize the patient's capacity, reduce stereotyped movements and improve the quality of life. Psychosocial support for families is also very important.

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