Rett's Syndrome

Biology Research Project

Living with Rett Syndrome: Story of Emily

Why I chose this disorder:

I chose this disorder because not many people know about it and it is almost exclusively in girls.

What happens to the body, and what part of the body does it generally affect? - Symptoms

Rett's Syndrome affects the way the brain develops and the growth slows after birth. Symptoms surface after 6 months, they will have increasing problems with movement, coordination, and communication. The most significant loss of motor skills starts between 12 to 18 months. Loss of communication and thinking abilities, as well as abnormal hand and eye movements occur. Breathing problems occur such as breath-holding, abnormally rapid breathing, and forceful exhalation of air or saliva. Symptoms also include: constipation, irregular heartbeat, abnormal curvature of the spine that typically begins between years 8 through 12, irritability and seizures. Abnormal behaviors include: odd facial expressions, long bouts of laughter, screaming that occurs for no apparent reason, hand licking, and grasping of hair and clothing.

What causes the disease?

Rett's Syndrome is genetic disease, and only in a few cases is it inherited. The genetic mutation that causes the disease occurs randomly and spontaneously. The most common gene mutation to cause this is of the MECP2 gene; as well as CDKL5 gene. Actually, boys who have a genetic mutation that causes the disease have devastating symptoms; most die before birth or during early infancy. A very small amount of boys survive but if they do they have the symptoms that girls have and will likely live to adulthood and will also have many risks concerning health and behavior problems.

How the disorder is inherited

Yes, it is sex-linked through the X chromosome where it is found. The Syndrome is dominant, and is inherited but is a gene mutation.
What is Rett Syndrome?

How the disorder is diagnosed and treated

The following test can help determine if a child has Rett's Syndrome:

  • Blood Test
  • Urine Test
  • Tests to measure the speed of impulses through a nerve
  • Imaging test such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
  • Hearing test
  • Eye and visions exams
  • Brain activity test
The disorder can be treated by:

  • Medication - which cant cure the disorder but can control some of the signs and symptoms
  • Physical and Speech therapy
  • Nutritional Support - some patients will have to be fed through a tube placed in the nose or directly in the stomach

Who it mostly effects

It affects girls almost exclusively, very rarely will it affect boys. It affects an estimated 1 in every 8,500 girls.