Children and families |
West’s syndrome (infantile spasms)West’s syndrome is a disorder of the brain characterised by infantile spasms (a form of epilepsy occurring in infants usually under one year of age), a specific EEG pattern (see below), developmental regression and, often, learning disability. Contents
What is the cause?There are many causes of West’s syndrome including severe brain injury at birth, brain malformations, metabolic diseases, chromosomal abnormalities and a genetic condition called Tuberous Sclerosis. In approximately 25 per cent of affected children, however, the cause cannot be established. How is it diagnosed?The diagnosis of West’s syndrome is made when the infant is having the infantile spasms and confirmed by the findings of the electroencephalogram (EEG), which shows a characteristic pattern called hypsarrhythmia. Does it have any alternative name?West’s syndrome is named after Dr West, a Kent GP, who first described the symptoms affecting his son in 1841.The term ‘infantile spasms’ is more commonly used to describe these particular seizures although not all children with infantile spasms have the characteristic EEG findings of West’s syndrome. Is it inherited?Many, but not all, of the conditions that cause West’s syndrome are genetically inherited; hence the importance of trying to establish the exact cause in each infant. Is prenatal testing available?Prenatal testing is dependent on establishing the underlying cause. For many of the genetic disorders, prenatal testing is available. How common is it?It is estimated that the incidence is approximately 1 in every 5000 births. How does the disease progress?Usually around the age of six months, the baby will develop infantile spasms. These are a type of epilepsy consisting of a very rapid jerk with bending forward of the head, arms and legs; because of the bowing motion they are sometimes described as ‘salaam’ attacks. The spasms often come in ‘runs’ with a few seconds between each spasm and can be mistaken for colic, initially. The baby may become generally irritable and unsettled and may stop developing, or even lose skills. From the age of one to two years, if not before, the infantile spasms will probably stop but other forms of epileptic seizures may well occur. Sadly, the infant is very likely to have developmental delay and sometimes significant long-term learning problems. Spasms and other forms of seizures can be distressing and, if they are occurring very frequently, interfere with the time he or she could be learning new skills. They do not, however, cause brain damage. Learning disability is caused by the severity of the underlying disorder that is also causing the seizures. In general, those infants whose seizures prove hard to control will probably also have a learning disability. Unfortunately even if the spasms are controlled the child may still have learning difficulties. Is there any treatment?Infantile spasms are usually treated either with an anti-epileptic drug called Vigabatrin, a course of Prednisolone (an oral steroid) or sometimes a course of ACTH (which makes the body produce extra steroid). If other types of seizures occur there are a large number of other anti-epileptic drugs that can be tried. In West syndrome, as in all forms of epilepsy, the effect of the drug on a particular child cannot be predicted in advance so several may need to be tried, and some children need more than one drug at a time. Depending on the underlying cause, brain surgery may be an option for a small number of children. As for all children with learning disability, education and therapies (physio / occupational / speech) need to be planned for the individual child and will ensure that he / she is helped to reach their potential and experience life to the full, however mild or severe their difficulties are. Is any research being done?Much research is being done into the causes and treatments of West’s syndrome and all forms of epilepsy. Research into how the brain is formed and how it functions, gene ‘mapping’ and understanding which gene is responsible for what process is all progressing rapidly. The brain is extraordinarily complicated, controls the workings of the whole body and is, of course, very difficult to examine directly, so research into curing and preventing brain disorders is very complex. For children already affected, treating the seizures more and more effectively is the most realistic hope of current medical research benefiting them; medicines are being developed all the time so that the range of treatments is wider and they are being refined to make them more effective whilst producing fewer side effects. Apart from medical research, enormous strides are being made in the development of educational and therapy strategies, aids and equipment. Is there a support group?There is a support group that can provide information, support and contact (if wanted) with other families: Ref: F050315 © GOSH Trust December 2005 This page was last updated on 12 August, 2008 |
UCL Institute of Child Health
Great Ormond Street Hospital for Children NHS Trust
