Rett syndrome is a neurological disorder seen almost exclusively in females. The symptoms of Rett syndrome are similar to those of autism and cerebal palsy and it can be misdiagnosed as those disorders. The syndrome affects about 1 in 12,000 girls and, though very rare, it is possible for the syndrome to arise in boys.

A child with Rett syndrome will not show any symptoms when she is very young and her development will be normal or near normal until she is about 6 to 18 months old. A period of stagnation or regression in development then occurs, with a loss of motor control and of communication skills. She may also show a slowing in head growth and may start wringing her hands. Other symptoms of the syndrome are developed in stages.

The severity of the syndrome is hard to predict and can vary greatly, from being very debilitating to fairly mild, allowing much independence. The symptoms that may arise and their severity also vary and may change over time. Not all people will show the same symptoms and they may have different effects.

The characteristic symptoms of Rett syndrome are:

• slowing in growth of head circumferance
• repetitive hand motions such as hand wringing, hand washing, clapping or hand mouthing
• social withdrawl, communication difficutlies and cognitive impairment.

Other symptoms include:

• loss of muscular coordination, particularly purposeful hand use
• delayed or absent ability to walk
• difficulty in breathing
• poor circulation leading to cold hands and feet
• disrupted sleep
• seizures
• bending of the spine (scoliosis).

A fuller list of symptoms is given here.

It is important to realise that though girls and women affected by Rett syndrome may have difficulty communicating verbally and physically, they experience a full range of emotions and understand more than they can express. They have engaging personalities and will enjoy taking part in social, educational and recreational activities at home and in the community.

Rett syndrome is caused by a mutation in the MeCP2 gene on the X chromosome. However, there is still much to be learnt about the disorder. In only a very few cases (about 1%) is it inherited from the parents.

For more details about Rett syndrome, the International Rett Syndrome Association has produced a comprehensive awareness publication.

If you have questions about Rett syndrome or want to arrange a genetic test for yourself or your daughter, Dr Mike Sullivan of the Children's Cancer Research Group is happy to provide answers.

The Story of Rett Syndrome

The story of Rett Syndrome began when Dr Andreas Rett noticed two girls in his waiting room of his clinic in Vienna, both wringing their hands. Dr Rett found other girls with the same symptoms and began to write about the syndrome. However, his work did not receive much attention.

The story continues with a study by three European paedatricians in Sweden, France and Spain. [More]

Coping for Families

Caring for a child with Rett syndrome can be a very trying time. At this link we present some advice for families, taken from notes from a lecture by Dr Gerald Koocher of the Children's Hospital Boston.