Rett syndrome

Rett syndrome

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

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

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

Causes of Rett Syndrome

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 the gene change.

Rett syndrome is not a disease 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 occurs more often in girls than boys. However, when Rett syndrome is experienced by a boy, the disorder that occurs can be more severe, even usually the child has died since the womb.

Symptoms of Rett Syndrome

The symptoms of Rett syndrome vary, both in terms of the age of the sufferer when the symptoms first appeared, 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 at the age of 1 to 1.5 years.

The course of Rett syndrome is divided into 4 stages, namely:

Level 1 ( stagnation ) _

Stage 1 is characterized by symptoms of difficulty when eating, abnormal and repetitive limb movements, delayed speech , difficulty moving (for example when wanting to sit, crawl, or walk), and less interest in playing. Stage 1 symptoms are seen when the child is 6-18 months old.

Level 2 ( regression ) _

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

  • Uncontrolled hand movements, such as squeezing or patting
  • Fussy and yelling for no apparent reason
  • Tends to avoid eye contact with others
  • Unbalanced body while walking
  • Sleep disturbance
  • The head circumference is smaller than average
  • Difficulty chewing and swallowing

Level 3 ( plateau )

Stage 3 begins at the age of 2-10 years, marked by the improvement of the symptoms experienced in stage 2. For example, the child becomes less fussy and more observant of others. The child's way of walking and communicating is also starting to improve.

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

  • Convulsions
  • Irregular breathing patterns, for example taking short breaths and then taking long breaths, or holding your breath)
  • Habit of grinding teeth
  • Heart rhythm disorders in some sufferers

Level 4 ( deterioration in movement ) _

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

Stage 4 symptoms last into adulthood.

When should you go to the doctor?

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

  • Fussy
  • Too late to speak
  • Don't like to play
  • Minimal response when interacting with people
  • Repetitive hand movements
  • The head looks small

Diagnosis of Rett Syndrome

Doctors can diagnose Rett syndrome when there is a developmental disorder in a child with characteristics or symptoms that lead to this disease. However, to make sure, the doctor will carry out a genetic test by taking a sample of the child's blood to be examined in the laboratory.

Treatment of Rett Syndrome

The treatment of Rett syndrome aims to overcome the symptoms and help the patient carry out daily activities. The treatment includes:

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

Although there is no specific therapy that can overcome Rett syndrome, some patients can control their body movements and communicate better after undergoing the above treatment. However, most patients still need help in doing daily activities throughout their lives.

Complications of Rett Syndrome

Complications that can arise as a result of Rett Syndrome include:

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

In addition to the above complications, some sufferers of Rett syndrome can experience wet lungs or heart rhythm disorders that have fatal consequences.

Prevention of Rett Syndrome

Rett syndrome cannot be prevented, as most of the genetic abnormalities that cause this syndrome occur spontaneously.

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

Back to blog