Rett Syndrome: Symptoms, Causes and Treatment

Rett syndrome is a rare genetic disorder that affects the way the brain develops in babies. It is both a neurological and a developmental disorder.

The Rett syndrome causes a progressive loss of motor skills and language in small babies. It primarily affects female babies. It is a severe disorder that can affect your child’s ability to speak, eat, walk, and breathe easily. In most babies with Rett syndrome, no problems are noticed for the first six months or sometimes for the first two years of the child’s life. It is noticed later that they lose skills that they previously had, like the ability to crawl, walk, communicate, or even use their hands.

Over time, babies with Rett syndrome have problems using muscles that control movement, coordination, and communication. It is possible that Rett syndrome can cause intellectual disabilities or even seizures.

Symptoms

Most parents who have children with Rett syndrome do not exhibit any problems during pregnancy and delivery. Initially, it may seem to the parent that the child is normal and growing as expected. Symptoms typically begin to appear after the first six months of the baby’s birth. Over the next year, the changes become more pronounced and noticeable. The symptoms and their severity could vary from child to child. The symptoms could be any of the following:

• Slow Growth: The growth of the brain slows down after the birth of the baby. It is often seen that children with Rett syndrome have a smaller head size than normal babies. This is often a sign that the baby has Rett syndrome. As they grow, the growth in other parts of the body is also slowed down.
• Loss of Movement and Coordination Abilities: Initially, the babies have reduced hand control, and their ability to crawl and walk is affected. The loss of these abilities happens rapidly in the beginning and then slows down as they grow older. As they grow, their muscles become stiff and weak. Some children have unusual movements or positioning. They walk awkwardly.
• Loss of Communication Abilities: Rett syndrome causes children to lose their ability to speak. They cannot make eye contact or communicate. As such, they lose interest in toys, their surroundings, and the people around them. Some of them have social anxiety.  In some cases, the eye contact could be regained over time. These children may develop non-verbal communication skills.
• Unusual Hand and Eye Movements: Rett syndrome causes children to develop repetitive, purposeless hand movements. These hand movements may differ in every person and could include hand-wringing, clapping, squeezing, tapping or rubbing. They also have unusual eye movement like staring, blinking, crossed eyes or blinking one eye.
• Breathing Problems: Rett syndrome causes a lot of problems with breathing. When awake, these children hold their breath or breathe rapidly. Sometimes, they blow out air or saliva or even swallow air. While sleeping they may have shallow breathing or even stop breathing (apnoea) for short periods.
• Irritability and Crying: As they get older, these children become irritable and agitated. They may cry or scream for hours together for no apparent reason. They may experience fear and anxiety.
• Unusual Behaviour: Children with Rett syndrome may have sudden, odd facial expressions. It is possible for them to have sudden bouts of laughter. They may behave oddly by licking their hands or grasping clothes and hair.
• Intellectual Disability: They do not have the skills that normal people do and cannot think, understand, or learn.
• Seizures: People with Rett syndrome experience seizures at some point in their lives. It is possible that various types of seizures occur.
• Scoliosis: A sideway curve in the spine occurs in people with Rett syndrome. It starts between the age of 8 and 11 and become worse progressively. If it is very severe, the child may require surgery.
• Irregular Heartbeat: Irregular heartbeat can occur in both children and adults with Rett syndrome. Without treatment, this can be fatal and result in sudden death.
• Problems with Sleep: Children with Rett syndrome have disturbances with sleep. They can have irregular sleep times and fall asleep during the day and remain awake at night and cry or scream.
• Other Symptoms: People with Rett syndrome have a lower response to pain than normal people. They have small hands and feet that are often cold. They have trouble chewing and swallowing. They sometimes grind their teeth, and they also exhibit problems with bowel movement.

Symptoms of Rett syndrome do not improve over time. Since it is a progressive disease and a lifelong condition, it is possible that the symptoms get worse or do not change over time. People with Rett syndrome need care and cannot live on their own.

Stages

There are four stages of Rett syndrome:

1. Stage 1, Early onset: When the baby is between 6 months to 18 months old, the symptoms are not easily identifiable and can be overlooked by the parents. The baby shows less eye contact and loses interest in toys. You may notice delays in their sitting and crawling.
2. Stage 2, Rapid deterioration: Between the ages of 1 and 4, you may notice that these children lose the skills that they previously had. Changes may be rapid or slow over weeks or months. You will notice slow head growth, abnormal hand movements, hyperventilating, crying or screaming for no reason, loss of movement and coordination, and loss of social interaction and communication.
3. Stage 3, Plateau: This is between the ages of 2 and 10. The problems may continue for several years after that. Their problems with movement will continue, but irritability and crying may be reduced. You may notice an improvement in communication and hand movement. Seizures may begin, but will not occur before the age of 2.
4. Stage 4, Late motor deterioration: This stage occurs after the age of 10 and lasts for several decades. They will have reduced mobility and muscle weakness. Scoliosis may occur. Their ability to understand, communicate, and hand skills may remain stable or improve slightly. There may be fewer seizures.

Causes

Rett syndrome is genetic, and it occurs when there is a mutation of the X chromosome in a gene called MECP2. How this mutation happens or what it does is still not very clear to researchers. It is believed that the single gene influences other genes involved in development. Although Rett syndrome is caused by a genetic mutation, it is never inherited due to faulty genes from the parents. It occurs when there is a chance mutation in the DNA.

Diagnosis

A diagnosis can be made by the doctor only by observing the child’s symptoms and behaviour. They will have to start by asking when the symptoms started. Doctors will first rule out other conditions like autism spectrum disorder, cerebral palsy, metabolic disorders, and prenatal brain disorders before concluding that it is Rett syndrome. Since it is a rare condition, genetic testing can confirm the mutation of the gene. Doctors use an RTT Diagnostic Criteria Worksheet, which assesses the child’s growth and development. If you have a child with Rett syndrome, the chances of you having another child with Rett Syndrome are very unlikely.

Treatment and Management

There is no cure for Rett syndrome. However, treatments can help such people. Treatments may include all or any of the following:

1. Medical care and medication: Medicines that can help with symptoms such as seizures and stiff muscles are helpful. This is also the case with symptoms such as sleeping problems, breathing problems, and problems with the digestive tract.
2. Physical therapy: Braces or casts can help with hand and joint support and even scoliosis. They can also help with movement, the ability to sit easily, walk better, and improve balance and flexibility. Devices like a walker or a wheelchair may be of great assistance.
3. Speech therapy: Children who have trouble with speech can be helped using speech therapy, which involves non-verbal ways to communicate and socialize.
4. Occupational therapy: This can help your child feel more confident in using their hands. They can learn to do activities such as changing clothes and feeding themselves easily. The occupational therapist may recommend splints that limit their elbow and wrist movement. This may help curb their repetitive hand movements.
5. Good nutrition: Work with a professional and ensure that the patient gets a balanced diet. This can help with growth and better mental, physical, and social skills. Some children choke on food or vomit while eating. The doctor may recommend feeding them through a tube placed into the belly.
6. Behavioural therapy: It can teach them good sleep habits and get a good night’s rest. They may improve with behavioural therapy.
7. Supportive services: Early intervention programs can help your child with school, social, and job training.

Living with Rett Syndrome

Treatment and therapy can help children go to school and learn to socialize better. Most girls with Rett syndrome can live up to their middle age. Reach out to organizations that can give you more information and connect with families who have similar children.

Conclusion

Initially, the signs and symptoms of Rett syndrome will be very subtle. When you notice physical problems or changes in behaviour, contact your healthcare provider immediately. Look for decreased coordination, mobility, repetitive hand movements, slowed growth of the head or other parts of the body, delayed language development, or loss of skills that they previously had.

Frequently Asked Questions