Rett Syndrome

Rett Syndrome first discovered by Dr Andreas Rett, a pediatrician in Vienna, Austria in 1954. He first noticed two girls in his waiting room with their mothers where he observed them making repetive ‘hand-washing’ motions. He later compared with his clinical and development histories and discovered there were more girls with similar symptoms. In 1966 Dr Rett published his findings in several German medical journals which at the time it was well known to that part of the world however it remained in the backwaters of medical concern to the rest of the world even after he has published the disease in English in 1977 due to lack of electronic informations were rarely available. A break through in 1983 as an artical on Rett syndrome appeared in the mainstream of english journal finally raised the profile of Rett Syndrome and put it on the radar screen of many more investigators-this finally a break through and recognised this syndrome, it was therefore named after the doctor whom first discovered and named Rett syndrome.

Rett syndrome often misdiagnosed with autism, it is a unique developmental disorder that is first recognized in infancy and almost exclusively in females although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world. It occurs worldwide in 1 of every 10,000 to 23,000 females births. Rett syndrome is not a degenerative disorder, but rather is a neurodevelopmental disorder. Barring illness or complications, survival into adulthood is expected.

Rett syndrome causes by mutations on the X chromosome on a gene called MECP2. There are more than 200 differentproblems in brain function that are resposnsible for sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, in some case even chewing, swallowing and digestion.
Rett syndrome appears after an early period of apparently normal to near normal development from birth until six to eighteen months of life, when there is a slowing down in skills such as loses communication and use of her hands. Soon stereotyped hand movements such as hand washing, squeezing, clapping/tapping, mouthing and rubbing. She will then emerging social withdrawal, loss of learned words and failing locomotion.
Other factors not necessary for the diagnosis, but may also be seen such as:
Awake disturbances of breathing-breath holding, forced expulsion of air or saliva, air swallowing, teeth grinding, impaired sleep pattern from early infancy. Small feet and thin hands. Girls with RTT almost always prefers people to objects and often enjoys affections, but opposite is seen in autism.

In the past, making correct diagnosis called not only for a long list of diagnostic tests and procedures to rile out other disorders but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today we have a simple blood test to confirm the diagnosis. Rett syndrome can present with a wide range of disability ranging from mild to severe. The course of severity of Rett syndrome is determined by location type and severity of mutation and X-inactivation. Therefore two girls of the same age with the same mutation can appear quite different.
Although girl with RTT will need help for most activities of daily living, she can learn some independence skills. Girls can learn to use the toilet with assistance and may learn to feed themselves by hand or with utensils with some assistance. Some girls can use devices to communicate. Although with their difficulties, girls and women with RTT can continue to learn and enjoy family and friends well into middle age and beyond. They express a full range of emotions and show their engaging personalities as they take part in social, educational and recreational activities at home and in their own community.
The average life expectancy of a girl given diagnosis of RTT may exceed 47 years. The majority if deaths in Rett syndrome are either sudden and unexpected.

For more information regarding Rett syndrome, please visit web site: www.rettsyndrome.org.