Rett Syndrome is an rare and debilitating neurological disorder diagnosed almost exclusively in girls. The disorder is characterized by developmental regression, repetitive hand movements, seizures, and extreme difficulty in communication. While there is no cure, treatments and support can help families manage the physical and mental challenges of the disorder.
What is Rett Syndrome?
Rett Syndrome is a rare genetic disorder, which typically first appears between six and eighteen months of age, referred to as the ‘honeymoon period’ of development. This is a period of apparent normal growth and development, followed by marked regression with loss of motor and expressive language skills, recurrent seizures, and a wide range of physical and cognitive symptoms. The course and severity of the disorder can range from mild to severe.
What are the Causes of Rett Syndrome?
Rett Syndrome is caused by a mutation of the gene MECP2, which is found on the X chromosome. Girls are more likely to be diagnosed with the disorder due to random inactivation of their X chromosome containing the normal copy of the gene. Boys can also be affected, although it is much rarer.
What are the Symptoms of Rett Syndrome?
Symptoms of Rett Syndrome can include:
- Repetitive hand movements including wringing, clapping, or tapping
- Difficulty speaking and understanding language
- Issues with coordination, balance, and movement
- Sleep disturbances
- Irritability, anxiety, and depression
- Growth delays
What are the Treatments for Rett Syndrome?
Treatments for Rett Syndrome focus on managing symptoms and providing daily support for patients and their families. Some of the treatments used to help manage the symptoms of Rett Syndrome include:
- Medications to help manage seizures and reduce irritability, depression, and anxiety.
- Occupational and physical therapy to help manage coordination and balance issues.
- Speech therapy to help improve communication and language skills.
- Behavioral therapy to help manage disruptive or self-injurious behaviors.
- Nutritional counseling to help improve nutritional intake.
Health Considerations for People with Rett Syndrome
People diagnosed with Rett Syndrome are at higher risk for a number of health problems, including:
- Infections and immune system disorders.
- Respiratory problems such as chronic chest infections or breathing difficulties.
- Gastrointestinal problems such as difficulty swallowing or chronic constipation.
- Bone and joint disorders.
- Cardiovascular problems.
- Hearing and visual impairments.
- Sleep disturbances.
- Weight loss.
To help manage the physical and mental health of people diagnosed with Rett Syndrome, regular monitoring for any health problems is recommended. It is also important to help encourage healthy habits such as exercise and proper nutrition. Finally, providing emotional and social support to families is vital for helping to manage the difficulties associated with Rett Syndrome.