It is believed that rett’s syndrome is the result of mutations in MECP2 gene found on the X-chromosome. This gene gives instructions to other genes for production and inhibition of their proteins. MECP2 gene also synthesizes a protein called methyl cytosine binding protein (MeCP2), which is important for normal functioning of the brain. In children with rett syndrome, the MECP2 gene functions abnormally and causes malfunctioning of other genes.
- There are different treatment options available to provide relief to particular symptoms, but no permanent cure is available for rett’s syndrome.
- Treatment is concentrated on the specific disabilities of the child. Treatment aims to provide relief to individual symptoms and to improve their quality of living. The main objective of the treatment is focused to make children with rett’s syndrome as much independent as possible.
- Physiotherapy and hydrotherapy helps the child to enhance the mobility.
- Occupational therapy is provided to help the child in daily living skills such as dressing, grooming, feeding etc.
- Medications are given for pain of the muscles, seizures or any other physical deformity.
- Special academic services may be provided in some cases to provide adequate education to help children with rett’s syndrome.
- The diagnosis of rett’s syndrome is made by molecular testing of MECP2 gene in the laboratory. This test helps to find mutations in MECP2 gene.
Rett’s syndrome is a rare disorder but majority of children with this disorder are expected to live till adulthood. Support services are available to help children with rett’s syndrome to make their life independent and productive.