Free Essay: Rett Syndrome- Causes, Symptoms, Diagnosis and Treatment
What is Rett Syndrome?
Rett Syndrome is a neurodevelopmental disorder which was discovered by and named after an Austrian scientist called Andreas Rett in mid 1960s. It is a rare condition that almost exclusively affects 1 out of 10000-15000 girls around the world. This disorder interferes with growth and may lead to severe motor skills damage as well as intellectual disability.
Rett Syndrome is extremely rare in boys because it mostly affects the X chromosome. In fact, the few number of boys who have this disorder develop complications and die shortly after birth because they do not have two X chromosomes like girls.
This disorder can also occur in certain girls who do not exhibit the symptoms of the disease. In this case, the disorder is referred to as the atypical Rett Syndrome.
What Causes Rett Syndrome?
Even though this disorder is a genetic one, only 1% of the patients have gotten it through hereditary means. The Rett Syndrome is caused by mutation of genes in the X chromosome. This disorder occurs when methyl CpG binding protein 2 or MECP2 becomes mutated. This gene plays a huge role in brain development because it carries instructions responsible for the synthesis of methyl cytosine binding protein 2, which is an important protein for brain development.
Rett Syndrome thus occurs when the MECP2 gene fails to function properly hence producing insufficient amount of protein or abnormally structured forms of protein. This ultimately interferes with brain development.
However, despite the mutation of MECP2 being attributed as the main cause of Rett Syndrome, it is not always the case. Scientists have discovered that in patients with atypical or congenital Rett Syndrome, there could be other causes such as the mutation of FOXG1 and CDKL5 genes. This hypothesis is still being researched and is yet to be concluded.
What are the Symptoms of Rett Syndrome?
While most patients of Rett syndrome are born normally, they experience slowing down of growth and development at a young age. Symptoms often differ with each stage of development and this is why it is difficult to diagnose the disorder early enough. The following are some of the symptoms that may be seen in a girl with Rett Syndrome:
- Slowed growth especially from the 6th month onwards
- Loss of body muscle
- Small head due to slow brain development
- Difficulty in crawling, walking and sitting
- Poor eye contact and concentration in babies as young as six months
- Wringing and rubbing of hands
- Loss of purposeful use of hands
- Lack of interest in toys, people and surroundings
- The child may have a wide berth in their walking gait
- Breathing problems
- Intellectual disability
How can Rett Syndrome be Diagnosed and Treated?
Rett syndrome can only be diagnosed through the symptoms and genetic testing. Unfortunately, there is no known cure for this disorder yet. However, most patients undergo management therapy. This may include a combination of therapies such as:
- Physical therapy to assist in movement
- Occupational therapy to develop essential skills
- Behavioral therapy for the children who develop anti-social behavior
In addition to this, medication may be administered for certain Rett syndrome patients especially those with breathing problems.
Is your assignment giving you sleepless nights? Why when our experts are available 24/7 to provide you with quick assignment help? Visit us at customwritingservice.org and find all the solutions to your assignment problems.