Rett Syndrome

Biology Genetic Research Project

I chose to do Rett Syndrome because my older sister has this genetic disorder that is not very common.

What is Rett Syndrome?

Rett Syndrome is a neurological disorder that is commonly mistaken for autism in young children. Babies born with this genetic disease grow and develop normally until about eight months, then start losing the ability to speak and hand skills.

Symptoms of Rett Syndrome

The slowing of head growth is the first sign of Rett Syndrome. Soon after that the child looses purposeful hand movements till the child just rings or rubs their hands. Between the ages of one and four the child's social and language skills deteriorate until they no longer speak and develop social anxiety. Generally most people diagnosed with Rett Syndrome become uncoordinated and walking becomes difficult. Seizures are also a symptom along with breathing problems.

Causes of Rett Syndrome

Rett Syndrome is a genetic mutation on the X chromosome. Nobody really knows what this gene does or how it creates Rett Syndrome. Scientist believe that Rett syndrome isn't inherited from a parent, but rather it's just a mutation in the girls own DNA. Generally Rett Syndrome is found in girls because of the genetic mutation on the X chromosome. Boys born with this disease die shortly after birth because they on have one X chromosome.

Treatment

There aren't any treatments to cure Rett Syndrome, but there are different ways to focus on helping a girl live the best she can with the condition. They can get physical therapy to help improve mobility and sometimes even speech therapy to regain some ability to speak. Also, there are different medicines to help control some of the symptoms such as seizures.

Diagnoses

Different behavioral patterns and symptoms help in diagnosing girls with Rett Syndrome. Genetic testing can help confirm Rett Syndrome in eighty percent of girls that are suspected to have Rett Syndrome. Sometimes genetic testing can also predict the severity of the disease.

Population Effects

Rett Syndrome is estimated to effect 1 in 10,000-15,000 females in all ethnic groups. It is not inherited and the risk of a family having another child with this disorder is less than one percent.

What I learned...

Adrian Bird came up with the first clinical trial to reverse Rett Syndrome by reversing the symptoms in adult mice. The treated mice showed astounding improvements in motor skills, tremors, and seizures. It seemed to have worked at first, but then the mice went back to how they were in the beginning and died.
Hope for girls like Grace (Rett syndrome)
Rett Syndrome - The View - January 28-2011