Rett syndrome is a rare genetic disorder caused by a mutation in a gene on the X chromosome. It is named after the doctor Andreas Rett, who originally described it. This condition is usually caused by a random genetic mutation rather than being inherited. It mainly affects girls. You can find more information below.

What is Rett syndrome?

Rett syndrome ; It is a rare genetic , neurological and developmental disorder that affects the way the brain develops and causes gradual decrease in motor skills and speech . This disorder particularly affects girls.

Most babies with Rett syndrome develop normally during the first 6 to 18 months, and then lose the skills they used to gain, such as walking, communicating or using their hands.

Over time, children with Rett syndrome have increasing problems with the use of the muscles that control movement, coordination, and communication. Rett syndrome can also cause seizures and intellectual disability. Abnormal hand movements, such as repetitive rubbing or clapping, replace purposeful dexterity.

Although there is no cure for Rett syndrome, potential treatments are under investigation. Current treatment focuses on improving movement and communication, treating seizures, and providing care and support for children, adults and their families with Rett syndrome.

Rett syndrome causes and risk factors

Rett syndrome is a rare genetic disorder. Various variants with milder or more severe symptoms besides the classic Rett syndrome may arise based on specific genetic mutation.

The genetic mutation that causes the disease usually occurs randomly in the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to cause problems with protein production, which is critical for brain development. However, the exact cause that produces the syndrome is not fully understood and is still under investigation.

Rett syndrome in men

Because men have a different combination of chromosomes than women, boys with the genetic mutation that causes Rett syndrome are devastatingly affected. Most die before birth or in early infancy.

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Very few boys have a different mutation that results in a less devastating form of Rett syndrome. Similar to girls with Rett syndrome, these children will likely live to adulthood but remain at risk for a range of mental and developmental problems.

Who is at risk?

Rett syndrome is rare. Genetic mutations known to cause disease are random and no risk factors have been identified. In some cases, hereditary factors, such as having close family members with Rett syndrome, may play a role.

Rett syndrome symptoms

Some children with Rett syndrome are more severely affected than others. Also, the age at which symptoms first appear varies from child to child. A child may not have all the symptoms of Rett syndrome, and their symptoms may change as they get older.

Rett syndrome is defined in 4 stages. Step-by-step symptoms are:

Stage 1: Early signs

At first, the child develops and grows normally for at least 6 months. There may be subtle signs of Rett syndrome before the child realizes that he or she has a problem.

Stage 1 is sometimes described as “stagnation”. Symptoms include:

  • Low muscle tone ( hypotonia; low muscle resistance to movement )
  • Feeding difficulty
  • Unusual, repetitive hand movements or jerky leg movements
  • delay in speech development
  • Movement problems such as sitting, crawling, and walking problems
  • Lack of interest in toys

These symptoms typically begin between 6 and 18 months and usually last for several months, although they sometimes persist for a year or more.

Stage 1 often goes unnoticed because the changes happen gradually and there may be little expression.

Stage 2: Regression

During phase 2, known as the “regression” or “rapid destructive phase”; the child begins to lose some of his abilities. This stage usually begins between the ages of 1 and 4 and can last from 2 months to more than 2 years.

The child will gradually or suddenly begin to develop serious problems with communication and language, memory, mobility, coordination and other brain functions. Some characteristics and behaviors are similar to autism.

Signs at this stage include:

  • Loss of ability to use hands consciously
  • Distress, irritability, and sometimes screaming
  • social withdrawal
  • Unsteadiness and awkwardness when walking
  • sleep problems
  • Slowing of head growth
  • Difficulty eating, chewing, or swallowing, and sometimes constipation , which can cause stomachaches

Later, during regression, he may experience breathing problems. Children may swallow enough air to cause bloating in their abdomen.

Stage 3: Plateau

stage 3 of Rett syndrome; It can start as early as 2 years old or as late as 10 years old. It usually lasts for many years, with many children remaining in this stage for most of their lives.

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During Rett syndrome stage 3, some of the stage 2 symptoms may be less obvious. For example, there may be improvements in behavior with less irritability and crying.

The child may show more interest in people and their surroundings. Also; There may be improvements in alertness, attention span, and communication. Their gait may also improve, or they may learn to walk at this stage if they haven’t learned it before.

Other symptoms at this stage include:

  • Seizures that may become more common
  • Irregular breathing problem may get worse

Gaining weight or maintaining current weight can also be difficult.

Stage 4: Disruption in movement

Stage 4 can last for years or even decades. The main symptoms at this stage are:

  • The development of the curve of the spine known as scoliosis
  • Muscle weakness and spasticity (abnormally increased muscle tone)
  • losing the ability to walk

Communication, language skills, and brain function do not tend to get worse at stage 4. Repetitive hand movements may decrease and eye gaze usually improves.

Seizures often become less of a problem during teen and early adult life, but because they don’t go away completely, the presence of seizures will remain a lifelong handicap.

Diagnosis of Rett syndrome

diagnosis of Rett syndrome; It involves carefully observing the child’s growth and development, and answering questions about personal and family health. The diagnosis is usually made on the basis of skill loss or developmental milestones when slowing head growth is noticed.

The diagnosis of Rett syndrome requires a serious follow-up and investigation process without ignoring other conditions with similar symptoms.

Evaluate other causes of symptoms

Because Rett syndrome is rare, some tests may be available to determine if other conditions in the child are causing the same symptoms as Rett syndrome. Some of these conditions are:

  • Other genetic disorders
  • Autism
  • Cerebral palsy (cerebral palsy)
  • Hearing or vision problems
  • Metabolic disorders such as phenylketonuria (PKU)
  • Disorders that cause the brain or body to break down (degenerative disorders)
  • Brain disorders caused by trauma or infection
  • Brain damage before birth

The tests your child needs depend on the specific symptoms. Tests may include:

  • blood tests
  • urine tests
  • Imaging tests, such as magnetic resonance imaging or computed tomography scans
  • Hearing tests
  • Eye and vision examinations
  • Brain activity tests

Diagnostic criteria

The diagnosis of classic Rett syndrome includes these core symptoms:

  • Partial or complete loss of purposeful dexterity
  • Partial or complete speech loss
  • walking problems
  • aimless hand gestures
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Genetics test

If your doctor suspects Rett syndrome after evaluation, they may recommend a genetic test (DNA analysis) to confirm the diagnosis. The test requires drawing a small amount of blood from a vein in the arm. The blood is then sent to a lab, where technicians examine your child’s DNA for abnormalities and clues as to the cause and severity of the disorder. Testing for the mutation in the MEPC2 gene confirms the diagnosis.

Rett syndrome treatment

Although there is no fully curative treatment for Rett syndrome, treatment can increase the potential for movement, communication, and social participation by reducing the manifestations of symptoms. The need for treatment and support does not end as children grow, they are often necessary throughout life. Treating Rett syndrome requires expert teamwork.

Treatment methods that can help children and adults with Rett syndrome may include:

  • Regular medical care: Managing symptoms and health problems can require a highly specialized team. Possible problems such as scoliosis and heart problems need regular monitoring.
  • Medications: Although medications cannot cure Rett syndrome; They can help control some symptoms associated with problems such as seizures, muscle stiffness, breathing, sleep, gastrointestinal tract (main organs of the digestive system), or heart.
  • Physical therapy: The use of braces or splints in physical therapy can help children with scoliosis who require hand or joint support. In some cases, physical therapy; It can also help maintain movement, establish an appropriate sitting position, and improve walking skills, balance, and flexibility.
  • Occupational therapy: Occupational therapy can improve the purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist movement may help.
  • Speech therapy: Speech therapy can help improve your child’s life by teaching ways to communicate nonverbally and assist with social interaction.
  • Food support: proper nutrition and normal growth; It is extremely important for enhanced mental, physical and social abilities. A high-calorie, balanced diet may be recommended. Nutritional strategies are important to prevent choking or vomiting. Some children and adults may need to be fed through a tube inserted directly into the stomach (gastrostomy).
  • Behavioral intervention: Implementing and developing good sleep habits can be beneficial for sleep disorders.
  • Support services: Academic, social and work-education services; can help with integration into school, work and social activities. Special adaptations can enable participation.

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