Rett's Syndrome

Biology Research Project

Introduction

I chose to study and research the Rett's Syndrome because I wanna learn something new about this disease, other than the diseases that I already know about. Rett's Syndrome seems to be pretty interesting to learn about as well.

What is Rett's Syndrome?

Rett's Syndrome neurodevelopment disorder that affects girls almost exclusively. Normal early growth and development is how Rett's Syndrome is characterized followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. For boys who develop Rett's Syndrome, they die shortly after birth since they only have one x link chromosome. For girls who develop Rett's Syndrome, it's not inherited from the parents but it's develop in their DNA.

What are the effects of Rett's Syndrome?

The effects of Rett's syndrome doesn't occur until six months of birth that it actually starts. Slowed growth, brain growth slows after birth. Smaller than the normal head size, usually the first sign that a child has Rett's syndrome. Loss of normal movement and coordination, children that has Rett's Syndrome loses the ability to speak and communicate in other ways. They'll also become uninterested in things that they do not like anymore. For instance, other people, toys and their surroundings would be some of the things they don't find interesting anymore. Abnormal hand movements, unusual eye movements, breathing problems, irritability, abnormal behaviors, seizures, abnormal curvature of the spine (scoliosis), irregular heartbeat (dysrhythmia), and constipation are also things that can effect the body.

What happens in the body to cause Rett's Syndrome? Is it a mutation? A genetic tendency triggered by other factors?

Brain conditions that can only happen to girls. Before school age, they begin to lose the ability to walk and talk. It is a mutation for females only, but they can still live and have it because they two X links. Boys who gets will soon die because they only have one X link.

How is the disorder of Rett's Syndrome inherited?

Rett's Syndrome is not inherited nor does the disorder run through the family. Many of the cases result into the new mutations in the MECP2 gene. The sex link is a X link. Rett's Syndrome affects the DNA and changes that affect how the information carried by the gene is used to produce proteins. The mutation also include changes in base pairs, insertions or deletions of DNA in the gene. Rett's Syndrome is dominant to X links, males are fatal to it and females inherits it.

How is Rett's Syndrome treated?

Medication

  • To reduce breathing problems
  • To eliminate problems with abnormal heart rhythm
  • To relieve indigestion and constipation
  • To control seizures

How is Rett's Syndrome diagnosed?

Rett's Syndrome is diagnosed in a careful observation of your child's growth and development and answering questions about her or his medical and family history. It is optional but it is highly recommended by doctor's that they should get genetic counseling.

How many and what type of people are likely to have the disorder?

Females would have the disorder because the male only has one X link. so they'll die at birth. Females will inherit because they two X links. It is more common in females than it is in males. Rett's Syndrome is not a common sickness, it is a rare disease.

What new information did you learn from your research?

I learned that Rett's Syndrome was a rare disease that only females can inherit, because the males only have one X link so they die at birth. 10,000 to 15,000 girls could develop the condition. There is treatment and medication for Rett's syndrome as well.
Big image
Live With Rett Syndrome
What is Rett Syndrome?

Resources

Mayo Clinic

Google Images

Youtube