Rett syndrome appears suddenly and slowly takes away from the parents a child who had been developing normally. Due to similar symptoms, the disorder is often confused with autism. You can live with Rett syndrome, but existence requires a lot of sacrifice and a long education in the ways of communication. What are the symptoms of Rett syndrome?

Rett syndromeis a genetically determined development disorder that almost exclusively affects girls. As the disorder develops, the child's physical functioning gradually deteriorates and his mental retardation worsens.

Rett syndrome - causes of the disease

This genetic disease is the result of a mutation in the MECP2 gene, located in one of the two sex chromosomes - XX record. This syndrome occurs almost exclusively in girls because boys have only one X chromosome (sex is described as XY) and if they are affected by this defect, they are not born or die shortly after birth. Rett syndrome occurs with a frequency of one in ten thousand babies born.

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Rett syndrome - symptoms at different stages of the disease

The course of Rett syndrome can be divided into 4 stages.

The first stage lasts from 6 to 18 months of age - changes occur subtly and are often completely imperceptible. The child is apparently developing correctly. For unknown reasons, a normally developing child becomes quieter, calmer, loses interest in toys, loses contact with the environment, and becomes "floppy". Sometimes it is accompanied by disturbances in motor development and inhibition of the growth of the head circumference. During this time, symptoms often direct the diagnosis towards autism, although Rett syndrome is not autism.

The second stage lasts from 1 to 4 years of age. Then unjustified cries, screams, night awakenings appear, the girl begins to lose the previously acquired skills. There are speech disorders, problems with the movement of the hands that perform the so-called stereotypical movements. These are most often gestures resembling washing hands, wringing, washing, tapping, clapping, touching the face and head. They canthere may also be seizures or seizures, apnea or hyperventilation. The head circumference clearly and noticeably decreases to the age of 4.

Stage three is the stage of "apparent stagnation". It includes pre-school and school-age children (2-10 years old). Although movement disturbance persists, behavior changes. The child is less nervous and cries less often. The girl develops a desire to establish contact and communicate with the environment. Concentration improves.

Around the age of 10, stage four begins. Problems with locomotion worsen and some girls stop walking. Cognitive skills, communication skills and moving hands are not affected by retrograde changes. Eye contact is improved. At this time, the risk of scoliosis increases greatly. Muscle tensions with unusual body positions appear. Sexual development remains at the peer level. People with Rett syndrome, apart from problems with osteoporosis and scoliosis, also struggle with apraxia and dyspraxia, cardiological problems, spasticity, bruxism, weakness, high underweight and constipation.

Treatment of Rett syndrome

There is no causal treatment for Rett syndrome. The therapy consists only in difficult and long-term rehabilitation, which allows the girls to develop physically and socially - it enables them to contact the world. Certain somatic symptoms are treated with appropriately selected medications.

Category:

Genetic diseases