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of everyone affected by epilepsy

Rett syndrome

What is a syndrome?

A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes.

Epilepsy Action has more information about seizure types, learning disabilities, and the EEG.

If you would like to know more about an epilepsy syndrome, please speak to your doctor. If you would like to know more about epilepsy in general, please contact Epilepsy Action.

Rett syndrome

This syndrome happens in about one in every 10,000-12,000 girls. It rarely affects boys, but when it does, they are always affected far more severely than girls. Rett syndrome is caused by a genetic abnormality, called a ‘mutation’. This abnormality or mutation is usually found on one of the sex chromosomes – the X chromosome. The most common mutation is called the MECP2 mutation. A different and much less commonly found genetic mutation is nearly always seen in those children with Rett syndrome who have a very severe type of epilepsy. This less common mutation is called the CDKL5 mutation.

Symptoms

Girls with Rett syndrome may show normal development for the first six or more months of their life. Then between six and 30 months of age (often between six and 18 months of age), their development slows down and may even go backwards. They become less interested in play, lose the ability to speak and may become irritable and scream for no obvious reason. They stop using their hands purposefully and they may, instead, begin to move their hands in a repetitive way. This often takes the form of hand-wringing or hand-washing movements.

Epilepsy eventually happens in about nine out of 10 children. It usually begins after the age of two years, but may begin in the first year of life. The seizures may be of various types, including generalised convulsive (tonic-clonic), absences (where the child goes blank), myoclonic (jerks), and tonic seizures (where the child stiffens). A child may also have focal seizures (where consciousness may or may not be affected). A particular type of seizure called infantile spasms may also happen. This type of seizure particularly happens in the first year of life in girls and boys with the less common genetic mutation (the CDKL5 mutation). Often more than one seizure type is present. Frequently, girls with Rett syndrome have periods of rapid or slow breathing. Often the breathing may stop altogether and this is called an ‘apnoea’. This may last for a number of seconds. The periods of slow breathing are sometimes associated with faints, which can be mistaken for epileptic seizures. Some girls will also have a disturbance of their heart rate and rhythm. The medical name for this is an ‘arrhythmia’.

When boys are affected, the epileptic seizures nearly always start within the first few weeks or months of life, and are often extremely difficult to treat.

Epilepsy Action has more information on seizures and infantile spasms.

Diagnosis

The discovery of the genetic mutation in Rett syndrome has made it much easier to diagnose the condition. However, it is obviously important for doctors to think about the condition in the first place, so that the blood test can then be done to look for the genetic mutation. This common mutation is found in about eight out of every 10 girls with Rett syndrome. Before the genetic mutation was discovered, the diagnosis of Rett syndrome was not usually made until girls were much older - usually at three or as late as six years of age.

The electroencephalogram (EEG), which measures electrical activity in the brain, may show features which suggest Rett syndrome, even when epilepsy is not present. It can, therefore, be useful in diagnosis. Brain scans are normal in children with Rett syndrome.

Epilepsy Action has more information about the EEG and diagnosing epilepsy.

Treatment

Treatment of Rett syndrome can be very difficult. Epilepsy medicines that are often used, include sodium valproate (Epilim), lamotrigine (Lamictal), carbamazepine (Tegretol, Tegretol Prolonged Release) and clobazam (Frisium). Other medicines, including piracetam (Nootropil) and sulthiame (Ospolot) may help to control seizures in some cases.

Information about treatments for children can be found on the Medicines for Children website.

There may be research studies open that are relevant to this epilepsy syndrome. Your child’s doctor will be able to discuss this with you.

If your child has this syndrome they may have prolonged or repeated seizures. Your child’s doctor will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated seizures.

Outlook

The seizures usually become less of a problem in adolescence and early adult life, but only occasionally will the seizures stop completely. There is usually increasing difficulty with walking, and those with Rett syndrome may eventually not be able to walk. Many older children and teenagers will need special attention to prevent scoliosis (a bending or curvature of the spine).

Feeding may also be a problem, particularly in early childhood. Some children will need to be fed through a nasogastric tube (tube inserted through the nose) or a feeding gastrostomy tube (tube inserted directly into the stomach). The lifespan of people with Rett syndrome is shortened, but most people will live into early and middle adulthood. Unfortunately, most boys with Rett Syndrome will have a very shortened lifespan. Finally, all girls with Rett syndrome need complete care throughout their lives.

Support 

Rett UK
Helpline: 01582 798 911
Email: support@rettuk.org
Website: rettuk.org

Contact a Family
Freephone helpline (UK only): 0808 808 3555
Website: cafamily.org.uk
Email: info@cafamily.org.uk 

Together for Short Lives
Freephone helpline: 0808 8088 100
Website: togetherforshortlives.org.uk

Code: 
S011.02

Epilepsy Action would like to thank

  • Dr Richard Appleton, and Dr Rachel Kneen, consultant paediatric neurologists at Alder Hey Children’s Hospital, Liverpool, UK and
  •  Dr Stewart Macleod, consultant paediatric neurologist at Royal Hospital for Sick Children, Glasgow, UK.
    They have kindly prepared the information on this page. It is based on their own research, experience and expertise.

This information is exempt under the terms of The Information Standard.

  • Updated August 2013
    To be reviewed August 2016

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