Rett’s syndrome-Causes, Symptoms and Treatment

Causes of rett’s syndrome

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.

Signs and symptoms of rett’s syndrome

  • Signs and symptoms occur in classic rett syndrome. There is normal psychomotor development during 6-18 months of age but suddenly development comes to stillness. Regression occurs in language and motor skills. There is repetitive movement of hands such as wringing, clapping or washing of hands. Child loses the ability to perform motor functions.

  • Size of the head is small as compare to other normal children of same age. Small head size is known as microcephaly and it is a characteristic feature of children with rett’s syndrome.

  • Child fears social interaction. Children with rett’s syndrome are unable to express their ideas and language. They fear eye gazing or eye to eye contact during conversation.

  • Movements of the trunk are not coordinated. Patient may also develop hand and foot deformities. 90% of children with rett’s syndrome also suffer from seizures. Breathing difficulties are also experienced by some children with rett’s syndrome.

Treatment for rett’s syndrome

  • 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.

Reference:

  • Caballero IM, Hendrich B. MeCP2 in neurons: closing in on the causes of Rett syndrome. Hum Mol Genet. 2005; 14: 1926. [PubMed]
  • Kerr AM, Ravine D. Review article: breaking new ground with Rett syndrome. J Intellect Disabil Res. 2003; 47: 5807. [PubMed]
  • Percy AK, Lane JB. Rett syndrome: clinical and molecular update. Curr Opin Pediatr. 2004; 16: 6707. [PubMed]