What is Rett Syndrome?

To put it bluntly.

• A girl with Rett Syndrome is born every 2 hours worldwide.

• Rett Syndrome is a neurological disorder that mostly occurs in Females.

• It is a debilitating disorder that most often strikes previously healthy little girls just after they have learned to walk and say a few words and begins to drag their development backwards.

• 1 in 10,000 girls are born with Rett Syndrome.

• Annually this equates to over 6,500 girls.

• It is not contained to any particular race or ethnic groups.

• It is not hereditary.

• It is caused by spontaneous genetic mutation, and can occur in any family at any time.

• 5% of Rett sufferers are boys.

• Boys that are born with Rett Syndrome rarely survive longer than 1 year old.

• 50% of Rett sufferers will never walk.

• 99% of Rett sufferers will never talk.

• While Rett Syndrome was once seen as a degenerative, irreversible disease, huge strides have been made in some treatments and gene therapy to combat some symptoms and an eventual goal is to eradicate entirely.

Early stage symptoms.

Symptoms typically develop between 6 to 18 months of age, including:

• • Crying or irritability.

  • Difficulty crawling or walking.

  • Loss or decline of speech skills.

  • Loss of eye contact.

  • Weak or floppy muscle tone.

  • Movement disorders.

  • Slowed head growth.

  • Epilepsy.

  • Apraxia.

  • Unique hand movements (wringing)

  • Dyspraxia.

Later stage symptoms

• Slowing of developmental regression.

• Epilepsy.

• Movement disorders.

• Joint deformities.

• Scoliosis.

• Sleep disorders.

• Rett Syndrome is mostly caused by a mutation in the MECP2 gene.

• The MECP2 gene contains the instructions for the synthesis of a protein called Methyl Cytosine Binding Protein (MeCP2).

• This protein is needed for brain development and acts as one of the many biomechanical switches that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins.

• In Rett Syndrome, because the MECP2 gene isn't functioning properly, insufficient amounts or structurally abnormal forms of the protein are produced and can cause other genes to be abnormally expressed.

• The MECP2 gene is found in a person's X chromosome, one of the two sex chromosomes.

• Girls have two X chromosomes, but only one is active in any given cells.

• This means that in a girl with Rett Syndrome, some of the child's brain cells use the healthy gene and express normal amounts of the protein.

• Only a portion of the cells in the nervous system will use the defective gene,

• Because boys have only one X chromosome, they lack a 'backup' copy of the gene that could compensate for the defective one, and they have no protection from the more harmful effects of Rett Syndrome.

• Boys that have the X chromosome defect do not show the clinical features of Rett Syndrome, but experience severe problems when they are first born and unfortunately most die shortly after birth.