Rett syndrome – causes, diagnosis, treatment

Rett syndrome, also known as RETT syndrome, is a rare genetic disorder that affects children’s neurological development.

In this article, we will discuss the causes, diagnosis, and treatments for this condition.

What are the causes of Rett syndrome?

The cause of Rett syndrome is a mutation in the MECP2 gene, located on the X chromosome. This is a gene associated with the regulation of the expression of other genes, especially those related to the functioning of the nervous system. A mutation in the MECP2 gene leads to impaired regulation of gene expression in the brain, which results in damage to neuronal functions.

Is Rett syndrome a common genetic disease? who gets it most often?

Rett syndrome is a rare disease. It is estimated to affect approximately 1 in 10,000 to 1 in 15,000 girls. This condition is inherited in an X-linked manner, which means that most sufferers are girls. Boys rarely develop Rett syndrome because one copy of the MECP2 gene on the X chromosome is sufficient for proper functioning, while girls have two copies of the X chromosome.

What are the symptoms of Rett syndrome?

The symptoms of Rett syndrome can vary in severity and may change as the child grows. Common symptoms include:

• Loss of social and communication skills previously acquired.
• Loss of ability to walk and use hands for manual skills.
• Speech problems, including loss of the ability to speak.
• Relatively small heads and delayed growth.
• Stereotypical hand movements, such as teasing the hair.

These symptoms often appear between 6 and 18 months of age.

How is Rett syndrome treated?

Unfortunately, there is no cure for Rett syndrome. Treatment focuses on relieving symptoms and improving the patient’s quality of life. Symptomatic therapy may include:

• Physiotherapy and occupational therapy to improve movement and manual skills.
• Speech and communication therapy to help with communication.
• Medicines to relieve some symptoms, such as seizures.
• Appropriate psychological support for the family and the patient.

It is also important to be regularly monitored by a specialist to adapt the therapy to the child’s changing needs.

Your suggestions

If you have any questions or suggestions about Rett syndrome, it is always worth consulting your doctor or genetics specialist. It is important that parents and carers are well informed and have the support necessary to provide the best care for a child affected by this condition.

Recommended articles

If you want to learn more about Rett syndrome or other genetic diseases, we recommend reading the following articles:

• “Genetic diseases: causes, symptoms and treatment” – The article discusses various genetic diseases and their common features.
• “Genetics and inheritance: basic concepts” – The article explains the basic principles of genetic inheritance.

Knowledge on this topic is crucial to improving the quality of life of patients and their families and striving for better treatments and therapies.