Rett Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Rett syndrome is a type of genetic disorder that affects brain development. This disease attacks infants or children. Rett syndrome is rare, affecting only 1 in 12,000 girls and very rarely in boys.
In sufferers, this syndrome results in obstacles to motor development, speech, and body coordination.
Rett Syndrome Reason
Rett syndrome occurs as a result of a genetic mutation in MECP2. This gene is needed by the brain to develop and regulate body movements. Abnormalities in this gene will result in a decrease in a person’s ability to move or even be unable to move at all.
Rett Syndrome Symptoms
Rett syndrome symptoms occur in several phases, namely:
First phase
In the first six months of life, children with Rett syndrome generally grow and develop like other children. But after that, his abilities did not develop and slowly decreased.
These early symptoms are generally experienced at the age of 6–18 months. Signs that appear in this phase include:
- Muscle weakness (hypotony)
- Difficulty eating
- Repetitive hand or leg movements
- Speech delay
- Problems in the development of movements such as sitting, crawling, or walking
- Not interested in playing
The second phase (regression)
In this phase, a child with Rett syndrome will show a decline in motor and speech abilities. Visible symptoms include:
- Decreased ability to move
- Sensitive, irritable and depressed
- Avoiding social interactions
- Unstable when standing
- Hard to sleep
- Head circumference size did not increase significantly
This phase occurs when children are 1–4 years old and last for several months to a matter of years.
The third phase (plateau)
Not all children reach this phase. Some children who receive appropriate therapy will experience progress in ability and remain in the second phase.
However, if the progression of Rett syndrome continues and the child is in the third phase, the symptoms experienced may include:
- seizures
- Irregular breathing
- Heart rhythm disturbances
The fourth phase (deterioration)
In this phase, the symptoms experienced include:
- Changes in the shape of the spine, curves to the left or right ( scoliosis )
- muscle stiffness
- Not able to walk at all
Diagnosis
The diagnosis of Rett syndrome is determined based on the clinical symptoms experienced by a child, in the form of:
- Loss of movement in the hands
- Loss of speech
- Decreased ability to walk or unable to walk at all
- Repetitive movements of the limbs
In some cases, MECP2 genetic testing is also required. This gene can be a marker of Rett syndrome. However, even if it is not found, it still does not rule out the diagnosis of this syndrome.
Rett Syndrome Treatment
Rett syndrome treatment covers all aspects, starting from drugs, nutritional management, and physiotherapy. Medicines are given based on the symptoms experienced by the sufferer.
In patients with complaints of seizures, treatment can be given in the form of anti-epileptics. In patients with heart rhythm disturbances, beta-blocker treatment or pacemaker installation can be given.
Physiotherapy is no less important in the treatment of Rett syndrome. This physiotherapy includes walking exercises, body coordination, speech, and other fine motor skills.
Prevention
There is no specific prevention to avoid this Rett syndrome.