About Rett Syndrome

What is Rett Syndrome?

Rett Syndrome is a rare genetic neurological disorder that affects the development of the brain in children, usually girls. It is characterized by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, problems with walking, seizures, and intellectual disability. It is caused by a mutation in the MECP2 gene.

What are the symptoms of Rett Syndrome?

The most common symptoms of Rett Syndrome include:

-Loss of purposeful hand movements
-Loss of speech
-Loss of coordination
-Repetitive hand movements such as wringing, clapping, or tapping
-Unusual postures or gait
-Breathing irregularities
-Seizures
-Scoliosis
-Growth delays
-Intellectual disability
-Sleep disturbances
-Gastrointestinal problems
-Anxiety and/or depression

What are the causes of Rett Syndrome?

Rett Syndrome is caused by a mutation in the MECP2 gene, which is located on the X chromosome. This gene is responsible for producing a protein that helps regulate the activity of other genes. The mutation in the MECP2 gene disrupts the normal development of the brain, leading to the symptoms of Rett Syndrome.

What are the treatments for Rett Syndrome?

1. Medication: Medications can be used to help manage some of the symptoms of Rett Syndrome, such as seizures, anxiety, and sleep disturbances.

2. Physical Therapy: Physical therapy can help improve muscle strength, coordination, and balance.

3. Occupational Therapy: Occupational therapy can help improve fine motor skills, such as handwriting and self-care skills.

4. Speech Therapy: Speech therapy can help improve communication skills.

5. Behavioral Therapy: Behavioral therapy can help manage challenging behaviors.

6. Assistive Technology: Assistive technology can help improve communication and mobility.

7. Nutritional Therapy: Nutritional therapy can help ensure that the person with Rett Syndrome is getting the proper nutrition.

8. Social Support: Social support can help the person with Rett Syndrome and their family

What are the risk factors for Rett Syndrome?

1. Female gender: Rett Syndrome is almost exclusively seen in females.

2. Mutation in the MECP2 gene: This gene is responsible for the production of a protein that is essential for normal brain development.

3. Family history: Rett Syndrome is known to run in families, although it is not always inherited.

4. Premature birth: Babies born prematurely are at an increased risk of developing Rett Syndrome.

5. Low birth weight: Babies born with a low birth weight are at an increased risk of developing Rett Syndrome.

Is there a cure/medications for Rett Syndrome?

There is no cure for Rett Syndrome, but there are medications and therapies that can help manage the symptoms. These include medications to help with seizures, muscle relaxants, and medications to help with sleep and anxiety. Physical, occupational, and speech therapies can also help improve motor skills, communication, and daily living skills.