Rett Syndrome

Rett Syndrome: Causes, Picture, Symptoms and Treatment

Rett syndrome refers to the rare disease that affects girls. It is the neurological as well as a developmental disorder that affects the brain’s development. So, it results in loss of motor skills and speech as time progresses. Babies who are born healthy can also encounter the problem between the first six months to eighteen months. The syndrome causes the child to lose the skills they previously possessed. Therefore, they lose abilities like crawling, communicating, walking or even the use of hands. As time progresses, children with the syndrome have problems using their muscles, which leads to loss of coordination, movement control, and communication skills. The rare problem can also cause intellectual disability and seizures. It also results in abnormal hand movements in affected children. Unfortunately, Rett syndrome has no complete cure. The potential cure aims to improve the signs and symptoms associated with the problem. So, the doctor aims to offer relief by treating seizures, improve communication, and offer care.

Symptoms Of Rett Syndrome

Unfortunately, no signs of abnormality are visible during the birth of the child. Most of the times, babies suffering from the issue are born after a normal pregnancy as well as delivery. For the first six months in their life, the kids seem to grow and behave normally. The signs associated with the issue only appear after the first six months. In most cases, the babies show the signs after twelve to eighteen months of age. The symptoms may appear over a period of a few weeks or months. The severity and signs of the problem differ from child to child. So, the symptoms vary with each child. But, the general signs associated with the problem are:

Slow Growth Rate

Rett Syndrome

Though the children with Rett syndrome appear normal at birth, their brain growth slows down after some time. It results in the children having microcephaly, leading to smaller head size compared to the normal ones. It is the first visible indication of something wrong with your child. As the child gets older, you can see delayed growth in other parts of the body.

Normal Movement And Coordination Loss

The reduced hand control is another sign, which indicates something is amiss with the child. You can also observe a decreased ability to walk or crawl in such children. In the initial stages, you can observe the loss of movement and coordination rapidly. But, as time progresses, the loss continues more gradually. Finally, the child can experience issues due to weak, rigid or spastic muscle. So, it leads to the abnormal movement as well as positioning.

Loss Of Communication Skills

Children suffering from Rett syndrome usually lose their ability to make eye contact, speak, or communicate in other methods. You can observe the children lose interest in toys, surroundings or other people. In some cases, you can see the child experiencing rapid changes like losing the ability to speak all of a sudden. But, the affected child may regain the ability to maintain eye contact and develop other communication skills like nonverbal form in the later years.

Abnormal Hand Movement

Repetitive hand movements in children can point towards the syndrome. Affected children can develop purposeless hand movements, which can differ from one child to another. Therefore, you can see anyone of the hand movements in children:

  • Squeezing
  • Tapping
  • Clapping
  • Rubbing
  • Hand-Wringing

Unusual Eye Movements

Children affected by the issue exhibit unusual eye movements. So, you can observe different eye movements that indicate a problem like:

Breathing Problems

The syndrome affected children can experience different types of breathing problems that can occur during waking hours or during sleep. The problems include:

  • Abnormal rapid breathing (hyperventilation)
  • Breath holding
  • Swallowing air
  • Forceful exhalation of saliva or air
  • Shallow breathing
  • Periodic breathing

Irritability And Crying

Children suffering from Rett syndrome can become increasingly agitated as well as irritable as they age. In most cases, the children may start crying or screaming suddenly for no apparent reason. It may last from few minutes to a few hours. Children become anxious and may experience irrational fear due to the syndrome.

Cognitive Disabilities

Some children may experience loss of intellectual functioning along with losing other skills.

Seizures

It is the common sign that children affected by the syndrome can experience any time during their lives. Multiple seizures can affect the children, which accompanies along with the abnormal EEG (electroencephalogram).

Scoliosis

rett syndrome

Also known as the abnormal curvature of the spine, it is the common sign in affected children. It usually begins when the child is between eight and eleven years of age. It progresses gradually with the increasing age. For severe curvature, the child requires immediate surgery.

Heart Problems

An irregular heartbeat can cause life-threatening complications to children suffering from the syndrome. It can result in the sudden death of the child or adult suffering from Rett syndrome.

Sleep Disturbances

Children can suffer from sleep disturbances. They can have irregular sleep times, which makes them asleep at day and wide awake during the day. They can wake up in the night screaming or crying.

Abnormal Behaviors

The kids suffering from the syndrome can exhibit several abnormal behaviors, which points towards the issue. It includes:

  • Odd facial expression
  • Long bouts of laughter
  • Grasping of hair
  • Hand licking
  • Clutching the clothing

Other Symptoms

Children can also show other symptoms like:

Stages Of Rett Syndrome

Rett syndrome is commonly classified into four different stages. The stages can describe the severity of the problem.

Stage 1

It is the early stage of the syndrome when you overlook the symptoms or signs. The subtle signs can occur anytime between the six and eighteen months of age. Your child can suffer from the issue for a few months or last for a year. The children suffering from the syndrome may lose interest in their toys or people. Children may show less eye contact and have delays in crawling or sitting.

Stage 2

It is the stage that causes a rapid deterioration in your child. It can start when your child is between one and four years of age. The affected child loses all the skills previously possessed. So, they cannot perform normally. The loss of skills may occur either gradually or rapidly over a period of a few weeks or months.

Stage 3

The condition goes uphill during the stage. It mostly happens between the ages of two and ten years. The symptoms occurring at a particular stage can last for several years. The behavior of the child may improve during the period. But, the affected child can experience seizures and other movement problems.

Stage 4

During the stage, the affected child can experience late motor deterioration. It occurs once the child reaches ten years of age. The stage is marked by reduced mobility, scoliosis, joint contracture, and other issues. It can last for several years or even decades. But, you can see improvement in the hand skills of the child. Seizures also occur less frequently during the stage.

Causes Of Rett Syndrome

Classic Rett syndrome and several variants of the syndrome occurs due to a genetic mutation. The specific genetic mutation is rare but causes mild to severe symptoms. Usually, the MECP2 gene in the child’s body gets affected randomly leading to the problem. The mutation occurs due to the problem in protein production. A child’s brain needs protein for critical brain development. So, the mutation can lead to the problem. But, the exact reason why the mutation occurs remains unsolved. It mostly affects girls compared to boys. The difference in the chromosome combination causes the genetic mutation to affect boys in devastating ways. So, the boys affected by the syndrome die before birth or in early infancy. Boys affected by the mild variants of Rett syndrome live to adulthood. But, such children also face development and intellectual problems.

Risk Factors Associated With Rett Syndrome

It is a rare disease, triggered by a genetic mutation. In most cases, random mutations lead to the problem. No particular risk factor causes a problem. But, it is observed that inherited factors play a big role in getting the disease. So, if you have a family member with the disease, then you have more chances of having a baby with the problem.

Complications Of Rett Syndrome

Some parents opt for no treatment for their child with the syndrome. It is due to the unavailability of a complete cure for the disease. But, no managing the issue can lead to several complications. So, not treating the problem can cause the following complications:

  • Sleep problems
  • Delayed growth
  • Bladder and bowel problems
  • Pain due to fractures or gastrointestinal issues
  • Problems with bone, joint, and muscles
  • Behavior problems hindering social functioning
  • Need for lifelong care and assistance to fulfill daily activities
  • Short life span compared to a normal person due to severe health complications

Diagnosis Of Rett Syndrome

When you observe development delays in children, you need to seek medical help. Only a professional doctor can diagnose the problem with careful observation. The signs and symptoms can resemble several other health problems. Therefore, your doctor monitors the growth and development closely. You also need to answer several questions about the family history and medical issues of the child. The following diagnosis methods can detect the problem:

Physical Assessment

In most cases, the doctor detects the problem with the slow head growth or the loss of skills in children. The missing of the developmental milestones also indicates some issue with the child. When the doctor detects the issues, the doctor rules out other condition with similar symptoms. The other problems with similar signs or symptoms are:

  • Cerebral Palsy
  • Metabolic disorders (for example problems like phenylketonuria)
  • Hearing problems
  • Vision issues
  • Degenerative disorders, which causes the brain or body to break down
  • Autism
  • Trauma or infection triggering brain disorders
  • Prenatal brain damage (which happened before birth)

Since the syndrome is rare in nature, you need several other tests to identify the actual problem. After eliminating the other disorders with similar symptoms, your doctor performs a physical assessment. It can help diagnose the problem. Therefore, the core condition that points towards the problem is:

  • Loss of purposeful hand skills partially or completely
  • Walking abnormalities (for example finding it difficult to walk or inability to walk completely)
  • Partial or complete loss of verbal communication like spoken language
  • Purposeless hand movements repetitive in nature

Genetic Testing

To confirm the diagnosis, the doctor may suggest genetic testing. It involves DNA, which can confirm the diagnosis. It requires drawing a small amount of blood from the vein in the arm. The blood sample is assessed in the lab by technicians to detect the abnormalities in your child. It can also determine the underlying condition that causes the disorder. Genetic testing can also reveal the severity of the disorder. In most cases, the mutation of MEPC2 gene in your child’s body confirms the presence of the Rett syndrome.

Other Tests

To determine the severity of the issue and the complications it causes in your child’s body, your doctor specifies different tests. The tests can determine the actual problem your child suffers due to the syndrome. So, the diverse tests used to deter the problem are:

  • Blood tests
  • Urine tests
  • Hearing tests
  • Eye and vision examination
  • Imaging tests (like CT scans or MRI)
  • EEG (electroencephalograms, which detects the brain activity)

Treatment Options Available For Rett Syndrome

You have to understand that no cure is presently available for treating Rett Syndrome. The available treatment options can only offer support to manage the condition. So, it can improve the symptoms associated with the problem. Your child can improve her movements, communicate better, and participate socially with the techniques. You need to continue the treatment even when the child becomes an adult. In most cases, the treatment continues throughout life. Treatment of the syndrome is a team approach as several methods offer relief from various issues troubling the child. Therefore, the options include the following:

Constant Medical Care

A child suffering from the syndrome needs constant care and treatment from a multispecialty team. It helps manage health problems better. So, the team of doctor can monitor regularly the different physical changes like heart problems, GI or scoliosis better.

Medications

Different medicines can control the symptoms associated with the disorder. No medicine can cure the problem completely. Therefore, a doctor can prescribe medication for different problems like:

  • Muscle stiffness
  • Seizures
  • Sleeping disorders
  • Breathing problems
  • Heart Issues
  • Gastrointestinal tract disorders

Physical Therapy

Physical Therapy

Some children with the syndrome need braces or casts for hand or joint support. It is mostly applicable to kids who suffer from scoliosis due to the syndrome. So, the doctor can suggest physical therapy that helps manage proper movement. With therapy from professionals, the kids can create a proper sitting position, improve their walking, balance, and flexibility.

Occupational Therapy

Occupational Therapy

Occupational therapy can combat the ill-effects due to repetitive hand movements. With the therapy, the child can improve the hand movements for purposeful activities like feeding or dressing. The professionals can also suggest using splints. It can restrict the wrist motion as well as the elbow motion. So, the child can control the repetitive motion.

Speech-Language Therapy

Communication and social interaction can take a big hit with the syndrome. Therefore, your child needs speech-language therapy. It can teach nonverbal methods of communication. So, it can help improve your child’s life. It aids in interacting with others socially.

Nutritional Support

Nutritional Support

Nutrition is highly essential for proper growth and development of the children. But, Rett syndrome can affect the mental, physical, and social abilities of the affected kids. Therefore, your doctor may offer good nutritional support to ensure the child’s mental and physical health. In most cases, a high-calorie diet with a good balance in nutrition offers good effects. The feeding strategies devised will prevent vomiting or choking in the affected children. In some cases, the kids with syndrome need feeding through the tube. It is placed directly into the stomach through the procedure known as gastrostomy.

Behavioral Intervention

It is required to instill good sleeping habits. Affected children can suffer from sleep disturbances and subsequent issues arising due to it. So, the behavioral intervention can help the kids practice and develop good sleeping habits.

Support Services

The support services focus on providing academic, social, and job-based training for adults with Rett syndrome. It is integrated along with the school, work, as well as social activities. So the special adaptations make it possible for the participation of the affected children.

Alternative Medicine For Rett Syndrome

Some complementary therapies have proven effective in children suffering from Rett syndrome. So, you can adopt some alternative therapies after consulting your doctor.

  • Massage Therapy
  • Music Therapy
  • Hydrotherapy (it includes, moving in water or swimming)
  • Animal-Assisted Therapy (for example, therapeutic riding on horseback)

Researches have not conclusively established the effectiveness of the alternative approaches. But, it offers an opportunity for the affected children to move more. It also offers them recreational and social enrichment.

If you think alternative or complementary therapies might help your child, talk to your doctor or therapist about the possible benefits and risks, and how the approach might fit into the medical treatment plan.

Coping With Rett Syndrome Better

The family of affected children always come under immense strain while caring for them. Affected children need constant help even when carrying out daily tasks. So, the constant care while eating, walking or even using the bathroom can make you exhausted. It can affect your physical as well as mental health. It can put your health and well-being at risk. Therefore, you need to adopt some steps to reduce pressure and prevent overwhelming emotions. Follow the steps to reduce the stress associated with taking care of children with Rett syndrome.

Relieve Stress

Always find ways to relieve stress. You can talk to your friend or close family member about the overwhelming feeling to get a release. Take a break and recharge yourself to overcome the stress associated with taking care of the syndrome affected child.

Get Help From Outside

Seek assistance from trained caregivers to get a break from taking care of the affected child. You need to take frequent breaks to avoid feeling overwhelmed. If taking care of the child at home becomes impossible, then seek residential care. Residential care is the right option for children who become adults.

Connect With Family With Similar Problem

You can look online for forums or organizations that offer online support and information on the disease. Connecting with other families will help you share the experience. You will also feel less alone with the support from other families.

Preventing Rett Syndrome

Unfortunately, you have no method available to prevent Rett syndrome. It is caused due to genetic mutations. In most cases, it occurs spontaneously in babies who are born healthy. Therefore, you need to maintain caution. If you already have a child with the syndrome or have a family member with the issue, then ask your doctor about genetic testing. It will help you detect the possibility of having a child with the syndrome in the future.

Conclusion

Rett syndrome is incurable. But, you can manage the severity of the genetic disorder with early diagnosis and proper management. It will offer the child affected by the syndrome with a better quality of life.

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