GENETIC DISORDER RETT SYNDROME

WHAT IS RETT SYNDROME? RETT syndrome (RTT) is a genetic disorder caused by mutation. It is classified as a neurodevelopmental condition which means it is obtained before birth and cannot be acquired once grown up. A mutation occurs in the beginning stages of fetal development.

WHAT ARE THE SYMPTONS? Symptoms of RETT syndrome include: Epileptic seizures Muscle stiffness Osteoporosis Scoliosis Incapability of speech Uncontrollable crying & screaming Breath holding Hyperventilation Air swallowing Symptoms don’t start showing until the child is between 6 and 12 months old.

WHAT CAUSES RETT SYNDROME? It is caused by the mutation of the MECP2 gene on the X chromosome. MeCP2 stands for methyl CpG binding protein 2. Rett disorder can be caused by over 300 different mutations on the MeCP2 gene, which include deletion, insertion, and changes in single base pairs.

WHAT DOES THE MECP2 DO? The MeCP2 genes main function is to bind proteins to DNA in the brain. Therefore when one of these mutations occur the gene no longer has the capability to do its job, leaving the chromatids unbound.

HOW IS RETT SYNDROME OBATINED Unlike most genetic disorders, RETT syndrome is not inherited. It is sporadic in our gene, therefore it is not genetically passed down from your parents. Because of the two X chromosomes in females and one in males, women are twice as likely to be affected. Only 1 in 10,000 people in the USA are affected by the RETT syndrome.

TREATMENT Currently there is no cure for Rett Syndrome however there are many researchers working to make it a manageable disease. Some options to help a person with Rett Syndrome live a more comfortable life are: Physiotherapy Speech therapy Occupational therapy Feeding assistance Hydrotherapy.

TREATMENT Although there are no medications directly prescribed for Rett Syndrome there are helpful medication that can be used. Scientific testing has been done on mice to try and reverse the affects of Rett Syndrome. This kind of testing has not been approved for humans yet.

RESEARCH The Ontario Rett Syndrome Association has new research every year and is expanding quickly, doubling the amount of researchers since Researchers are working towards finding a cure but also trying to make the lives of people with Rett Syndrome simpler and more comfortable. There are support groups online where you can write a message and other families that are in a similar situation can reply and help to know they are not alone.

WHO DOES RETT SYNDROME AFFECT? RETT syndrome clearly affects the person that has it, but it also affects their family and friends. Constant care is needed to complete simple daily routines. This may cause a financial burden on the family or cause extra stress.