RETT SYNDROME
GENETIC DISORDER
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:
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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:
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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 2006.
• 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.