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Rett Syndrome

Rett syndrome is a rare neurological disorder that primarily affects infants, especially girls. It is usually caused by mutations in a specific gene that disrupt normal brain development. Children with Rett syndrome often experience challenges in walking, speaking, and eating, with symptoms typically emerging around six months of age. While some symptoms may ease over time, individuals with Rett syndrome require lifelong care and support to manage their motor, cognitive, and developmental difficulties.

Stages & symptoms of Rett Syndrome

Stage 1: This stage is marked by delayed growth and poor muscle tone, occurring between 6 and 18 months of age. Children may have difficulty making eye contact, show delays in crawling, and experience challenges with feeding.

Stage 2: Children between one and four years old in this stage may perform repetitive actions like clapping and lose their ability to speak. The child may also exhibit symptoms of autism spectrum disorder, such as a lack of interest in socializing. Seizures can occasionally start at this stage of developmental disruption, which results in smaller heads.

Stage 3: This stage is characterized by a slight increase in social interaction, an improvement in motor functions, and the ability to speak. It is also referred to as the stabilization stage, pseudo-stationary stage, or plateau stage. However, they may face breathing issues & still experience seizures.

Stage 4: Children over 10 years old go through this stage, where their cognitive abilities are maintained, but their motor skills deteriorate, and they are unable to walk. Furthermore, a spinal curve development (either to the left or right), otherwise called scoliosis, can be observed at this stage.

Causes

Although Rett is thought to be brought on by a genetic mutation in one of the genes located on the X chromosomes that carry information to produce a protein needed for brain development, it does not run in families because these genetic variations are not inherited from parents and can arise spontaneously or randomly. Since females have two X chromosomes, it is clear that they are more likely to have Rett syndrome than males. MECP2 protein is crucial for nerve signaling in your brain cells; thus, a mutation in this gene or a few other genes, such as CDJK5 and FOXG1, might disrupt brain functioning.

Treatment

Treatment involves physical, occupational, & speech therapy along with certain medications for treating seizures, gastrointestinal issues, etc.

With speech-language therapy, the child’s communication skills are enhanced through the use of picture boards or visual aids, and they are assisted in maintaining eye contact and social interaction.

Physical therapy includes teaching them sitting postures to reduce scoliosis, improving muscle stiffness and mobility issues, and using assistive devices like crutches or walkers, along with physiotherapy services to ease pain & discomfort.

Children who receive occupational therapy can regain the ability to dress and eat appropriately by avoiding repetitive arm or leg movements and using their hands purposefully. If necessary, splints can be used to manage these repetitive movements.

Above all, a nutritious diet is crucial for mental, physical, and overall well-being. Thus, in addition to the required medications and the different methods described above, it is essential to provide children with a well-balanced diet to promote their growth and development.

It is difficult to forecast a Rett person’s life expectancy, as it depends on the severity of the condition & several other factors. Some statistics indicate that they may live into their 40s and 50s and may live longer with the right support and care. Additionally, early detection can enhance the quality of life for such children living with Rett syndrome.

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