Rett Syndrome

What is it?

Rett syndrome is a disorder of the nervous system that leads to developmental reversals, usually in the areas in language and hand use. Only girls form of autism.

Symptoms:

Loss of muscle tone and later the child loses any purposeful use of her hands. Instead, she habitually wrings or rubs her hands together.

Ranges between 1 to 4 years of age, social and language skills start to go away in a girl with Rett syndrome. She stops talking and develops gets anxiety and disinterest in other people.

Rett syndrome starts problems with muscles and coordination. Walking starts to become awkward as girls develop a jerky, stiff-legged gait. The person who is effected can have uncoordinated breathing and seizures


Inheritance pattern

Children with this syndrome have a mutation in a gene on the X chromosome. Its not clear what this gene does and how it leads to this syndrome. Some say this single gene can influence other genes involved in the development.

Rett syndrome is genetic, the gene is usually not inherited from the parents. It's a chance mutation that happens in the girl's own DNA. No Rett syndrome risk factors have been identified, other than being female. There is nothing for preventing Rett syndrome.

When boys get this syndrome mutation, they die soon after birth. (Boys have only one X chromosome) girls don't. The disease is very serious with boys and fatal quickly.


Treatment

Rett syndrome treatments include that can just help a girl make the best of her life. To improve mobility a girl can get Physical therapy also speech therapy may somewhat fix with language problems also occupational therapy can help girls do every day life things like getting dressed and taking a shower

Therapy usually can help girls with Rett syndrome and with their parents. They cannot have a complete "normal", but they can some what improve with therapy. They can go to school and do activities which can help improved social interactions.

Medication can help and treat some problems with moving and control seizures. Sadly, there is no cure for Rett syndrome.


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Work cited

"Swallowing in Rett patients is studied." Science Online. Facts On File, Inc. Web. 22 May 2013. <http://www.fofweb.com/activelink2.asp?ItemID=WE40&SID=5&iPin=UPI-20080805-09505100&SingleRecord=True>.






Rett Syndrome. Webmd, 2013. Web. 22 May 2013. <http://www.webmd.com/brain/
autism/rett-syndrome?page=2>. this source helped me find information on
my research project for Rett syndrome.