Understanding Rett Syndrome: Causes, Symptoms & Treatments

Understanding Syndrome

Understanding Rett Syndrome: Causes, Symptoms, Treatments and Health

Rett Syndrome (RTT) is a severe neurological disorder that primarily affects young girls and less often, boys. It is characterized by a slow and irregular regress of acquired motor and social skills and is caused by a mutation of the MECP2 gene on the X chromosome. Although this condition is not curable, it is treatable – therapies are available to help manage the various symptoms of Rett Syndrome.

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Causes of Rett Syndrome

Rett Syndrome is caused by a mutation of the MECP2 gene on the X chromosome. This mutation affects the production of the brain-cell proteins that are essential for brain development and function. As a result, brain development is impaired, leading to the behavioural, emotional and physical symptoms associated with RTT.

Signs and symptoms of Rett Syndrome

Signs and symptoms of Rett Syndrome vary from person to person, but generally include slowed rate of growth; problems with hand movements, often appearing like finger-tapping and/or wringing of the hands; loss of muscle coordination and control; trouble walking and speaking; decreased overall mobility; and impaired speech and communication skills. Some individuals may also experience gastrointestinal and breathing difficulties.

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Treatment of Rett Syndrome

The treatment of Rett Syndrome focuses on managing and minimizing the specific symptoms of RTT. Treatment may include physical, occupational, and speech therapy; behavioral therapies; medications; and assistive technologies such as communication devices.

Healthcare and Support for Rett Syndrome

Families and caregivers of individuals living with RTT should take an active role in their loved one’s treatment and support. It is important to get involved in the local Rett Syndrome and disability communities, as there are many resources available to help assist with healthcare, support, and advocacy for individuals with Rett Syndrome. Additionally, educational programs and activity settings may also be beneficial in helping children and adults with Rett Syndrome learn to manage their symptoms.

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Keywords: Rett Syndrome, RTT, MECP2 gene, X chromosome, behavioural, emotional, physical, symptoms, gastrointestinal, breathing, therapies, physical, occupational, speech, therapy, medications, disability, healthcare, educational, programs.

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