Rett syndrome is a genetic disease that causes neurodevelopmental disorder. It is related to mutations in a specific gene of the X chromosome and occurs practically only in girls.
Although cases within the same family are rare, Rett Syndrome may have a hereditary component, that is, it can be passed from parent to child. However, these represent less than 1% of cases, since the vast majority of occurrences occur randomly.
The gene that undergoes mutations in Rett Syndrome is the gene MECP2, located in X chromosome. This gene is essential for controlling other genetic traits, as it is directly linked to a protein that blocks the action of other genes during the development of the nervous system.
Symptoms
The development of the baby in the first 5 months of life does not appear to have any abnormalities. The first signs and symptoms of Rett Syndrome begin to 6th month and 2nd year of age. At this stage, the child may present:
- Slow growth rate of the skull;
- Loss of motor skills;
- Weight loss;
- Uncoordinated movements when walking and moving the trunk;
- Strange movements with the hands, with twists and interlacing of the fingers.
Other common characteristics observed in this initial period of symptom manifestation are the end of jokes, aversion to social interaction, and mental retardation. Some children may still have seizures.
There are no medications that can improve the loss of motor skills or the socialization of the child. Cases of seizures are treated with anticonvulsants. Treatment of Rett Syndrome is multidisciplinary and may involve neurologist, physiotherapist, occupational therapist, speech therapist, pediatrician, among other specialists.
