Rett Syndrome - Symptoms, causes and treatment

Rett syndrome is a genetic disorder that affects brain development. Generally, this condition, which is more often experienced by girls, will show symptoms at the age of 1 to 1.5 years

Rett syndrome occurs in every 1 in 15,000 births. Babies with this condition initially develop normally, but then their development is gradually delayed.

Not all people with Rett syndrome experience the same symptoms. Some sufferers may have more severe symptoms than others. In addition, this syndrome can appear at different ages from one patient to another.

Rett Syndrome Cause

Rett syndrome is caused by mutations or changes in the gene that regulates brain development, namely MECP2. However, it is not yet known what causes this gene change.

Rett syndrome is not a disease that is passed down from parents. Even so, children from families with a history of Rett syndrome are thought to be more at risk of suffering from the same condition.

Rett syndrome is more common in girls than boys. However, if Rett syndrome is experienced by a boy, the disorder can be more severe, and usually the child has died in the womb.

Rett Syndrome Symptoms

Symptoms of Rett syndrome vary, both in terms of the age of the patient when symptoms first appear, and the severity of the symptoms.

Most babies with Rett syndrome grow normally until the age of 6 months. After that, symptoms began to appear. However, significant changes tend to appear only at the age of 1 to 1.5 years.

The journey of Rett's syndrome is divided into 4 stages, namely:

Stage 1 (s tagnation)

Stage 1 is characterized by symptoms of difficulty eating, abnormal and repetitive leg movements, speech delays, difficulty moving (eg when wanting to sit, crawl, or walk), and lack of interest in playing. Stage 1 symptoms appear when the child is 6-18 months old.

Stage 2 (regression)

Stage 2 appears in the age range of 1-4 years. At this stage, the child's abilities can decrease drastically or slowly. Symptoms include:

• Uncontrolled hand movements, such as squeezing or patting
• Fussy and screaming for no apparent reason
• Tends to avoid eye contact with other people
• Body unbalanced when walking
• Sleep disorders
• Head circumference is smaller than average
• Difficulty chewing and swallowing

Stage 3 (p lateau)

Stage 3 begins at the age of 2–10 years, marked by improvement in symptoms experienced at stage 2. For example, the child becomes less fussy and pays more attention to others. The way the child walks and communicates also begins to improve.

However, there are some new symptoms that appear at this stage, such as:

• Seizure
• Irregular breathing patterns, such as short breaths and then long breaths, or holding your breath)
• The habit of grinding teeth
• Heart rhythm disturbances in some patients

Stage 4 (deterioration in improvement)

Stage 4 is characterized by spinal deformity or scoliosis, muscle weakness and stiffness, and inability to walk. However, the child's ability to communicate and understand others can improve. In fact, repetitive hand movements and spasms began to decrease.

The symptoms of stage 4 last into adulthood.

When to see a doctor

Symptoms of Rett syndrome can be difficult to detect at the onset of this condition. Immediately consult a doctor if you feel something is different in your child, such as:

• Flustering
• Late talking
• Doesn't like to play
• Minimal response when interacting with people
• Repeated hand gesture
• Head looks small

Rett Syndrome Diagnosis

Doctors can diagnose Rett syndrome if there is a developmental disorder in a child with signs or symptoms that suggest this disease. However, to be sure, the doctor will run a genetic test by taking a sample of the child's blood to be studied in the laboratory.

Rett Syndrome Treatment

Treatment of Rett's syndrome aims to manage symptoms and help patients go about their daily activities. These treatments include:

• Speech and language therapy, to improve patient communication skills
• Drugs, to relieve symptoms of muscle stiffness, respiratory problems, and seizures
• Sufficient nutritional intake, to help the patient's physical and mental development
• Physiotherapy, to help patients move better
• Providing assistive devices for patients with Rett syndrome with spinal deformities
• Occupational therapy, to help patients perform daily activities, such as dressing or eating.

Although there is no specific therapy that can treat Rett syndrome, some patients can control their body movements and communicate better after undergoing the above treatments. However, most patients still need assistance in carrying out daily activities throughout their lives.

Rett Syndrome Complications

Complications that can arise from Rett Syndrome include:

• Sleep disorders
• Eating disorders
• Bone and joint problems
• Behavioral disorders and anxiety
• Digestive disorders, such as constipation and heartburn

In addition to the above complications, some people with Rett syndrome can experience pneumonia or heart rhythm disturbances which can be fatal.

Rett Syndrome Prevention

Rett syndrome cannot be prevented, because most genetic disorders that cause this syndrome occur spontaneously.

If you have a family with Rett syndrome or other genetic disorders, it is advisable to do genetic screening before planning a pregnancy, to anticipate any abnormalities in the fetus.