General Information About Rett Syndrome
Disease Details and Frequently Asked Questions
It is a severe neurodevelopmental genetic disorder in which a child dramatically loses previously acquired motor (walking/using hands) and language skills following a period of normal or near-normal development in early childhood.
The baby grows completely healthy, smiles, crawls, and grasps objects for the first 6 to 18 months. Then, suddenly, brain growth slows down (microcephaly begins). The child forgets the words they could previously say and forgets how to walk or crawl.
This is the most characteristic signature of Rett syndrome. Children stop using their hands to purposefully hold or grasp objects. Instead, they engage in involuntary and repetitive movements, such as wringing as if washing their hands, clapping, or bringing their hands to their mouth.
Most patients experience autism-like social withdrawal, episodes of breath-holding or hyperventilation, drug-resistant epilepsy (seizures), severe curvature of the spine (scoliosis), and difficulty swallowing.
Clinically, the regression and typical hand movement syndrome give it away. A definitive diagnosis is made through a blood test confirming the MECP2 gene mutation.
Treatment: There is no cure to genetically correct the disease. Treatment is palliative; antiepileptic drugs are used to stop seizures, intensive physiotherapy is applied to prevent joint/muscle stiffness, eye-tracking devices (alternative communication) are used for communication, and feeding tube support is provided.
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