Rett syndrome: Causes, manifestations, diagnosis and treatment

Rett syndrome is a rare genetic disorder that affects brain development leading to severe physical and mental disability. The disease has a poor prognosis, with most patients requiring lifelong supportive caregivers.

Rett's syndrome

Rett syndrome is a rare but very dangerous developmental disorder

What is Rett syndrome?

Rett Syndrome (RTT) is a rare neurodevelopmental disorder. Children with this syndrome seem to develop normally during the first year of life. However, they lose the ability to use their hands purposefully. Other development then slows down as the child gets older.

This syndrome poses developmental challenges to children throughout childhood. As children grow, these challenges evolve and do not go away. People with Rett syndrome can face challenges throughout their lives and always need caregiver support.

Rett syndrome is estimated to affect about 1 in 12,000 girls born each year. This syndrome affects mainly females and is very rarely seen in boys.

Rett syndrome usually begins to show symptoms around the first 6 months of life, but most are only detected when children turn 2 to 4 years old. Signs of the disease are likely to last until the age of 14.

Children with this syndrome may lose speech, motor skills as well as behavioral and neurological problems. In addition, children can experience a variety of other medical problems. Such as respiratory, intestinal, orthopedic and cardiac complications.

Currently there is no cure for Rett syndrome, treatment is directed at improving symptoms. This is a very dangerous disease, if treated too late can lead to sudden death. The prognosis of the disease is often poor, if treated after 10 years of age, the survival rate is low, with about 70% of patients living to the age of 35.

Rett syndrome mostly affects girls

Rett syndrome mostly affects girls

What causes Rett’s syndrome?

Rett syndrome has been identified as the result of pathogenic changes in the MECP2 gene on the long arm of the X chromosome. This gene makes a protein called methyl-CpG-binding protein 2. This protein is very important. important for brain development. It is also thought to be involved in controlling the function of other genes.

The methyl-CpG binding protein 2 is essential for the proper function of neurons as well as for communication between neurons. The specific effects of proteins are still poorly understood. However, harmful changes in the genes lead to the symptoms of Rett syndrome.

Manifestations of Rett syndrome by stage

Some children with Rett syndrome are more severely affected than others. In addition, the age at which symptoms begin to appear in each child will also be different. A child may not have all of the symptoms of this syndrome, and their symptoms will likely change as they get older.

The presentation of Rett syndrome is described in four stages. Although symptoms will often overlap between each stage, the severity will vary. As follows:

Stage 1: Stop growing

At first, your baby will still develop and grow normally for at least 6 months. There may be “subtle” signs of Rett syndrome before a child is recognized as having a problem.

Stage 1 is described as the stagnation stage – stopping growth. Symptoms may include:

  • Decreased tone
  • Difficult to feed
  • Abnormal, repetitive hand movements or jerky limb movements
  • Voice retardation
  • Mobility problems, such as problems with sitting, crawling, or walking
  • Lack of interest in toys

These symptoms tend to start around 6 to 18 months, and they usually last for several months. However, in some cases, they can last for a year or longer. Stage 1 of the syndrome may go unnoticed because the changes are gradual and somewhat subtle.

Stage 2: Rapid degeneration

Stage 2 is also known as the rapid destruction phase. At this point, the child will begin to lose some of his abilities. This stage usually begins between the ages of 1 and 4. It can last anywhere from about 2 months to more than 2 years.

Children will gradually or suddenly begin to develop serious problems with memory, communication and language, motor skills, coordination, and other brain functions. Some characteristics and behaviors are similar to those of autism.

Manifestations of Rett's syndrome

In stage 2 of Rett syndrome, the child may be irritable or yell for no reason

Symptoms of this stage may include:

  • Loss of purposeful use of the hand – repetitive and often difficult to control hand movements. Such as squeezing, washing, clapping or tapping.
  • Periods of irritability, distress, and sometimes screaming for no apparent reason.
  • Social withdrawal – loss of interest in people, while avoiding eye contact
  • Confused and wobbly when walking
  • Growth begins to slow down
  • Difficulty sleeping
  • Difficulty eating, chewing or swallowing, sometimes constipated causing abdominal pain

Later in the progression, the child may experience episodes of rapid (hyperventilation) or slow breathing, including breath holding. In addition, children can also swallow air leading to abdominal distension.

Stage 3: Pretending to be okay

Stage 3 of Rett syndrome can begin as early as 2 years or as late as 10 years. It tends to last for many years, many children will remain in this stage for most of their lives.

During stage 3, some stage 2 symptoms may go into remission. For example, there may be improvements in behavior, less irritability and less fussiness.

The child may also become more interested in people and surroundings. There may also be improvements in alertness as well as in attention and communication. Their walking may also be improved (or children can learn to walk if they weren’t able to before)

Other stage 3 symptoms may include:

  • Seizures may become more common
  • Irregular breathing patterns can be worse, for example shallow breathing followed by rapid, deep breathing or holding your breath
  • Gaining and maintaining weight can also be difficult to achieve

Stage 4: Late motor damage

Stage 4 of Rett syndrome can last for years or even decades. The main symptoms of this stage may include:

  • The development of a curve of the spine (the spine can be bent to the right or to the left), also known as scoliosis.
  • Muscle weakness and spasticity (unusual stiffness, especially in the legs)
  • Loss of ability to walk

Rett syndrome stage 4

Stage 4 Rett syndrome can cause the person to lose the ability to walk

Communication, language skills and brain functions do not tend to become more severe in stage 4. Repetitive hand movements may be reduced, and vision usually improves.

Seizures are also less likely to be a problem during adolescence and early adulthood. However, they are often a lifelong problem that needs to be managed closely.

Prognosis and complications

Rett syndrome is a serious neurological disorder with potential for complications. Among the most common complications include:

  • Sleep problems cause significant sleep disruption for patients and family members.
  • Difficulty, poor nutrition, slow growth.
  • Bowel and bladder problems, such as gastroesophageal reflux disease, constipation, bowel or urinary incontinence, gallbladder disease.
  • Musculoskeletal problems.
  • Anxiety and problem behaviors can interfere with social functioning.
  • Pain may be accompanied by gastrointestinal problems or broken bones.
  • Life expectancy is shortened, unable to live as long as the average person due to cardiovascular problems as well as other health complications.

In fact, Rett syndrome often has a poor prognosis. Some children may die suddenly, while others may live a long life with other health problems.

Patients often die suddenly from heart problems or pneumonia. Survival is usually low if treated after 10 years of age. The patient’s 35-year survival rate is about 70%. Women alone can live up to 40 years or more.

People with Rett syndrome often have to live with care and support from their family for the rest of their lives. Patients face many difficulties in participating in daily activities.

How is Rett syndrome diagnosed?

Rett syndrome is diagnosed by doing a physical exam, getting detailed information about a child’s development and medical history. The main signs of a diagnosis of Rett syndrome include:

  • Loss of ability to use normal hands
  • Loss of spoken language
  • Difficulty walking
  • Unusual hand movements such as clapping or clenching

Diagnosis of Rett's syndrome

When you notice suspicious symptoms, you need to take your child to see a doctor as soon as possible

our doctor may also order your child’s genetic DNA blood test to aid in the diagnosis of Rett syndrome. This genetic test can help detect a pathogenic change in the MECP2 gene. Most people with a clinical diagnosis of Rett syndrome (80-97%) have a change in this gene.

However, even if a MECP2 variant is found, the child may not be diagnosed with Rett syndrome if the child does not meet the clinical diagnostic criteria. Therefore, the syndrome is diagnosed by observing signs and symptoms during early development.

Diagnostic criteria for Rett syndrome:

The diagnostic criteria for Rett syndrome are divided into 3 categories including:

– Basic criteria:

Essential criteria include the symptoms required for a child to be diagnosed with Rett syndrome. The essential criteria include:

  • A period of normal development occurs between 6 and 18 months followed by loss of skill. Next is skill recovery or stabilization.
  • Partial or complete loss of intentional hand skills.
  • Partial or complete loss of spoken language.
  • Unsteady gait, wide and stiff legs.
  • Repetitive hand movements (such as squeezing, squeezing, clapping, etc.).

Support criteria:

These include symptoms that are not necessary for a diagnosis of Rett syndrome but are often present in people with the disorder. A child with supporting criteria but not essential criteria will not have classic Rett syndrome. Supporting criteria include:

  • Irregular breathing while awake, such as hypoventilation, apnea, and air swallowing
  • Chatter
  • Abnormal sleep
  • Abnormal muscle tone (may include hypotonia, stiffness or spasticity)
  • Poor circulation in the hands and feet; cold hands and feet, bluish to red
  • Scoliosis
  • Underdeveloped
  • Small hands and feet
  • Laughing or shouting inappropriately
  • Reduced response to pain

Exclusion Criteria:

These criteria allow the doctor to rule out a diagnosis of Rett syndrome. A child with any of the following criteria will not have classic Rett syndrome:

  • Neurometabolic disease or other genetic degenerative disorder
  • Neurological disorders due to severe infection or head trauma
  • Evidence of brain damage acquired after birth
  • Completely abnormal development within the first 6 months of life

Treatment of Rett’s syndrome

There is currently no specific cure for Rett syndrome. Treatment is directed at resolving symptoms and improving function. The multidisciplinary team approach is the most commonly used for patients throughout life.

This group approach can be performed by a primary care physician, occupational therapist, physiotherapist, speech-language pathologist, dietitian, along with supportive services in the environment. academic and professional schools.

Treatment of Rett's syndrome

Most people with Rett syndrome need a caregiver for life

Patients may benefit from the following treatments and support:

  • Speech therapy, picture boards, eye vision technology, and other visual aids to help with communication.
  • Medicines to treat breathing and movement problems. Certain antiepileptic drugs may also be used to control seizures (carbamazepine, valproic acid, topiramate). In addition, the doctor may also prescribe sedatives, antiemetics, etc.
  • Physical therapy: Pay attention to your child’s mobility and sitting posture (to reduce the risk of developing scoliosis). Also, pay attention to frequently changing positions.
  • In case scoliosis has formed, a back brace can be used. Sometimes spinal surgery can be done to prevent further spinal curvature.
  • Build a high-calorie diet to help maintain a healthy weight. Where necessary, a feeding tube can be used in combination with other feeding aids.
  • Occupational therapy can help develop essential skills such as dressing, eating, and other daily activities.
  • Ankle-foot orthotics (usually using a lower leg brace) to help the patient walk independently.
  • Splints to help control hand movements if the movements are severe. This is mainly used in the short term to prevent self-injury or to encourage other manual activities.
  • Use beta blockers or a pacemaker to control your heart rate.

In addition, equestrian therapy, swimming, hydrotherapy or music have also been shown to be beneficial for people with Rett syndrome. However, before accessing any therapy, consult your doctor.

Caring for someone with Rett syndrome is both physically and emotionally challenging. Most caregivers will need social and psychological support. Because most patients will depend on 24-hour care throughout their lives.

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