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Syndrome

What is Rett syndrome?

It is a congenital neurodevelopmental disorder caused by gene mutation and it has six Cardinal Features. Congenital means you are born with it, although it is usually very difficult to recognise a child with Rett syndrome in the first year of life.

The six cardinal features of Rett syndrome

• Genetic mutation causing profound mental disability identified mostly in   females.

• Brain immaturity (deficiency of a growth factor)

• Incoordination of thoughts and movements.

• Epilepsy

• Breathing dysrhythmia accompanied by agitation, vacant spells and   faints.

• Dysautonomia

Julu, P.O.O (2001). The central autonomic disturbance in Rett syndrome. In: Kerr, A. and Witt Engerstrom, I (eds) Rett Disorder and the Developing Brain. Oxford University Press, Oxford, pp132-181.
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