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Rett Syndrome: A Rare Genetic Disorder Affecting Brain Development

John Albert^{* *}Correspondence: John Albert, Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, USA, Email:

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Description

Rett Syndrome is a rare genetic disorder that affects brain development. Language and motor skills gradually deteriorate as a result of this disorder. Females are primarily affected by rett syndrome. For the majority of rett syndrome infants, the first six months of life appear to be normal that predominantly affects girls, with an incidence of approximately 1 in 10,000 to 15,000 female births. The disorder is caused by mutations in the MECP2 gene, which is responsible for producing a protein involved in regulating gene expression. As a result of these mutations, the protein is either absent or not functioning correctly, leading to abnormal development of the brain and other organs.

Rett Syndrome is typically diagnosed in girls between the ages of 6 and 18 months. Initially, the child may appear to be developing normally, with typical milestones such as smiling, crawling, and making eye contact. However, as the child enters the second year of life, there is a noticeable regression in development. The child may lose previously acquired skills; such as the ability to speak, walk, and use their hands for communicate.

One of the hallmark symptoms of rett syndrome is the presence of repetitive hand movements, such as wringing, clapping, or tapping. Additionally, affected individuals may experience seizures, breathing difficulties, and scoliosis. Cognitive impairment is also common, with individuals typically exhibiting moderate to severe intellectual disability. Rett Syndrome is classified into four stages. The first stage, called the early onset stage, usually begins between 6 and 18 months of age and can last for several months to a few years. During this stage, the child may have a slowing of head growth, loss of purposeful hand movements, and a decrease in social interaction.

The second stage is called the rapid destructive stage, which can last for weeks or months. During this stage, the child experiences a rapid decline in cognitive and motor function, with the development of seizures and breathing difficulties. The third stage is called the plateau stage, which can last for years or even decades. During this stage, the child's symptoms stabilize, and seizures may become less frequent. However, the child may still experience severe cognitive and physical impairments.

The fourth and final stage is called the late motor deterioration stage, which can last for several years. During this stage, the child may lose the ability to walk, develop scoliosis, and experience muscle weakness and rigidity. There is no certain cure for rett syndrome. However, there are a number of treatments that can help to manage the symptoms and enhance quality of life. These include physical therapy, speech therapy, and occupational therapy to improve motor function and communication skills.

Additionally, medications can be used to treat seizures and breathing difficulties. For individuals with scoliosis, surgery may be necessary to correct the curvature of the spine. The testing into potential treatments for rett syndrome is ongoing. One promising avenue of observation involves gene therapy, which involves delivering a functional copy of the MECP2 gene to affected individuals. Another area of analysis involves the use of drugs that target the underlying molecular mechanisms of the disorder. In addition to medical treatment, individuals with rett syndrome and their families may benefit from counseling and support groups to direction of the emotional and psychological challenges associated with the disorder.