Rett Syndrome - Genetic Brain Condition

Introduction

Rett syndrome is a rare genetic neurological condition affecting brain development. It affects females, which results in a loss of motor skills and language. It is caused by a random gene mutation. Most babies with this condition tend to show normal development in the first six months of life, and then they slowly lose the ability and skills that they had before, such as to crawl, walk, communicate, or use their hands.

What Is Rett Syndrome?

Rett syndrome is a rare neurodevelopmental condition that affects the brain and nervous system. Rett syndrome causes developmental issues throughout childhood; as children grow older progression of these conditions decreases but does not cease completely. People affected by Rett syndrome will face challenges throughout their life. It usually affects females.

The children show normal development in the initial six months, after which they lose their previous abilities, like crawling, walking, talking, etc. Over time children with this condition face problems using a muscle that regulates movements and coordination. It can also lead to seizures and intellectual disabilities. Purposeful hand movements are replaced by unusual movements like repetitive rubbing or clapping.

What Causes Rett Syndrome?

This syndrome is a genetic condition that is caused due to mutation of the MECP2 gene. It is not usually inherited, and this mutation occurs randomly. Therefore, the chance of passing this syndrome to the next generation is less than 1 %.

What Are the Symptoms of Rett Syndrome?

Infants affected by this syndrome do not show any signs and symptoms in the initial stages of life but tend to show signs and symptoms of developmental delay as they age. This syndrome usually affects:

1. Behavioral development.

2. Language skills.

3. Motor skills.

Almost 85 % to 90 % of people affected by Rett syndrome show muscle weakness and delayed growth. These symptoms are caused due to difficulty in swallowing and chewing, which does not allow the person to eat enough.

Other Symptoms Include:

• Hand-wringing, squeezing, or hand-to-mouth movements.

• Apraxia is the inability to say the correct word or do movements on command.

• Breathing problems.

• Autism behavior, like losing eye contact, less interest in social interactions, or panic attacks.

• Challenges in balancing and coordinating.

• Epilepsy.

• Muscle weakness or spasticity (abnormal increase in muscle tone or stiffness).

• The slow growth of the brain after birth, which may be smaller than the size of the head, is known as microcephaly. This is the first sign of Rett syndrome.

What Are the Stages of Rett Syndrome?

Rett syndrome progress through four stages; these are:

1. Stage I (Early Onset):

This stage is between 6 and 18 months of age, with subtle signs and symptoms. It may last a few months to a year, and the child may exert less eye contact and interest in toys. In addition, they delay sitting and crawling.

2. Stage II (Rapid Deterioration):

It starts at the age of one to four when the child slowly loses the abilities and skills that they possessed before. These changes may be slow or rapid and may occur over weeks or months. Signs and symptoms of Rett syndrome include delayed head growth, abnormal hand moves, hyperventilating, screaming or crying for no specific reasons, issues with movements and coordination, and loss of social interaction and communication.

3. Stage III (Plateau):

It usually starts at two to ten years old and lasts many years. Movement issues continue; there may be an improvement in behavior with reduced crying and irritability. There may be improved hand usage and communication. Seizures may occur at stage III, which does not occur before age two.

4. Stage IV (Late Motor Deterioration):

This stage occurs after the age of ten and lasts for decades. It is characterized by decreased mobility, muscle weakness, joint contractures, and scoliosis (a sideways curvature of the spine). In addition, there may be an improvement in understanding, hand skills, and communication, and seizures may be reduced.

How Is Rett Syndrome Diagnosed?

Usually, the parents observe the signs and symptoms in the initial stage. Then, the doctor performs a specific blood test to rule out any mutations in the MECP2 gene, which is the major cause of the syndrome.

How Is Rett Syndrome Treated?

Treatment of Rett syndrome depends on various signs and symptoms; children who encounter seizures are recommended with antiseizure drugs. In addition, children with motor skills and communication difficulties may benefit from the following:

1. Occupational Therapy: Occupation therapy involves the use of assessment and intervention to develop, recover, and maintain the activities of an individual or group of people.

2. Physical Therapy: It is performed to maintain and restore health through physical examination, diagnosis, management, rehabilitation, disease prevention, and health promotion.

3. Speech Therapy: Speech therapy treats communication issues and speech disorders.

The Child May Require Care From Other Specialties Like:

1. Neurologist.

2. Nutritionist.

3. Psychiatrist.

4. Gastroenterologist.

What Are the Complications of This Syndrome?

Some Rett syndrome can enhance the risk of health complications for an affected child, like swallowing issues or breathing problems that may result in aspiration pneumonia (when food, saliva, or liquid enters the lungs instead of the stomach). In addition, children with scoliosis may have lung problems, and uncontrolled seizures may cause health complications.

Is Rett Syndrome Curable?

There is no permanent cure for Rett syndrome; when proper treatment is provided, it helps to manage the signs and symptoms.

Does This Syndrome Occur in Males?

This condition usually affects the female as males have a different set of chromosomes. Some males affected by Rett syndrome die pre-birth or in early infancy. Very few survive with less destructive symptoms. However, similar to females, males with Rett syndrome make it up to adulthood with intellectual and developmental problems.

How Can Rett Condition Be Prevented?

There is no way that Rett syndrome can be prevented as the mutation in the gene occurs spontaneously. If a person has a child or any other family member with Rett syndrome, it is better to have genetic testing or counseling.

When to Visit a Doctor?

The signs and symptoms may be subtle in the initial stages. The child should be taken to the doctor when the parents notice any physical or behavioral changes. Changes may include:

1. Delayed growth of head or other body parts.

2. Reduced coordination or mobility.

3. Repeated hand movements.

4. Reduced eye contact or loss of interest in toys.

5. Slow language development or loss of previous language skills.

6. Any loss of previously attained milestones or skills.

Conclusion

Rett syndrome is an inherited condition that affects the nervous system and development of a child. It usually affects females. This condition results in physical and behavioral changes. It causes delays in the development of the head and other parts and causes loss of skills and abilities that are previously attained. It is not curable but can manage the signs and symptoms through treatments.