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West syndrome, otherwise known as infantile spasms, is an uncommon to rare and serious form of epilepsy in infants. It is named after the English physician, William James West (1793-1848), who first described it in an article published in The Lancet in 1841. Other names for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile Myoclonic Encephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms". The name "infantile spasms" is used to describe both the seizure type and the syndrome.
The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.
Additional recommended knowledge
Lots of different brain disorders create the same symptom of West Syndrome. This alone makes diagnosis difficult, it also serves to make locating the right information quite difficult. For those looking for further website information about this condition to help their own children, other useful search terms have been:
These search terms tend to lead onto a great many other websites of support groups, personal pages of those who have been cured and those with ongoing struggles to tell. Also, there will be sites of further research studies being performed and information of doctors around the globe who may be of assistance. Each case is unique in its own way, what works for one may not work for all, but there is so much to lose for not searching and so much to gain.
Prevalence is around 1:4000 to 1:6000. Statistically, boys are more likely to be affected than girls at a ratio of around 3:2. In 45 out of every 50 children affected, the spasms appear for the first time between the third and the twelfth month of age. In rarer cases, spasms may occur in the first two months or during the second to fourth year of age.
It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is conjectured that it is a malfunction of the neurotransmitter function, or more precisely, a malfunction in the regulation of the GABA transmission process. Another possibility being researched is a hyper-production of the Corticotropin-releasing hormone (CRH). It is possible that more than one factor is involved. Both hypotheses are supported by the effect of certain medications used to treat West syndrome.
If a cause presents itself, the syndrome is referred to as symptomatic West syndrome, as the attacks manifest as a symptom of another anomaly. These are the possible causes being considered:
West syndrome in Down syndrome babies
On average, West syndrome appears in 1 to 5 per 100 children with Down's syndrome as babies. Whereas this form of epilepsy is relatively difficult to treat in children who do not have the chromosomal differences involved in Down's syndrome, the syndrome often affects those who do far more mildly and they often react better to medication. The German Down Syndrom InfoCenter noted in 2003 that what was normally a serious epilepsy was in such cases often a relatively benign one.
EEG records for Down's syndrome children are often more symmetrical with fewer unusual findings. Although not all children can become entirely free from attacks with medication, children with Down's syndrome are less likely to go on to develop Lennox-Gastaut syndrome or other forms of epilepsy than those without additional hereditary material on the 21st chromosome. The reason why it is easier to treat children with Down's syndrome is not known.
When a direct cause cannot be determined but the children has other neurological disorder, the case is referred to as cryptogenic West syndrome, where an underlying cause is most likely but even with our modern means cannot be detected.
Sometimes multiple children within the same family develop West syndrome. In this case it is also referred to as cryptogenic, in which genetic and sometimes hereditary influences play a role. There are known cases in which West syndrome appears in successive generations in boys; this has to do with X-chromosomal heredity.
Occasionally the syndrome is referred to as idiopathic West syndrome, when a cause cannot be determined. Important diagnostic criteria are:
Those are becoming rare due to modern medicine.
The epileptic seizures which can be observed in infants with West syndrome fall into three categories. Typically, the following triad of attack types appears; while the three types usually appear simultaneously, they also can occur independently of each other:
Compared with other forms of epilepsy, West syndrome is difficult to treat. To raise the chance of successful treatment and keep down the risk of longer-lasting effects, it is very important that the condition is diagnosed as early as possible and that treatment begins straight away. However, there is no guarantee that therapy will work even in this case.
Insufficient research has yet been carried out into whether the form of treatment has an effect upon the long-term prognosis. Based on what is known today, the prognosis depends mainly on the cause of the attacks and the length of time that hypsarrhythmia lasts. In general it can be said that the prognosis is worse when the patient does not react as well to therapy and the epileptic over-activity in the brain continues. Treatment differs in each individual case and depends on the cause of the West syndrome (etiological classification) and the state of brain development at the time of the damage.
Due to their side-effects, two drugs are currently being used as the first-line treatment.
Vigabatrin is known for being effective, especially in children with tuberous sclerosis, with few and benign side effects. But due to some recent studies showing visual field constriction (loss of peripheral vision), it is not yet approved in United States. It is currently debated that a short use (6 months or less) of Vigabatrin will not affect vision. Also, considering the effect of frequent seizures on day to day life and mental development, some parents prefer to take the risk of some vision loss.
When those two are proving ineffective, other drugs may be used in conjunction or alone. topiramate (Topamax), lamotrigine (Lamictal), levetiracetam (Keppra) and zonisamide (Zonegran) are amongst the most widely use.
The ketogenic diet have been tested and his shown to be effective, up to 70% of children having a 50% or more reduction in seizure.
It is not possible to make a generalised prognosis for development due to the variability of causes, as mentioned above, the differing types of symptoms and etiology. Each case must be considered individually.
The prognosis for children with idiopathic West syndrome are mostly more positive than for those with the cryptogenic or symptomatic forms. Idiopathic cases are less likely to show signs of developmental problems before the attacks begin, the attacks can often be treated more easily and effectively and there is a lower relapse rate. Children with this form of the syndrome are less likely to go on to develop other forms of epilepsy; around two in every five children develop at the same rate as healthy children.
In other cases, however, treatment of West syndrome is relatively difficult and the results of therapy often dissatisfying; for children with symptomatic and cryptogenic West syndrome, the prognosis is generally not positive, especially when they prove resistant to therapy.
Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. Statistics show that treatment produces a satisfactory result in around three out of ten cases, with only one in every 25 children's cognitive and motoric development developing more or less normally.
A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of the causes behind them (cerebral anomalies or their location or degree of severity). Severe, frequent attacks can (further) damage the brain.
Permanent damage often associated with West syndrome in the literature include cognitive disabilities, learning difficulties and behavioural problems, cerebral palsy (up to 5 out of 10 children), psychological disorders and often autism (in around 3 out of 10 children). Once more, the etiology of each individual case of West syndrome must be considered when debating cause and effect.
As many as 6 out of 10 children with West syndrome suffer from epilepsy later in life. Sometimes West syndrome turns into a focal or other generalised epilepsy. Around half of all children develop Lennox-Gastaut syndrome.
West syndrome was named after the English doctor and surgeon William James West (1793-1848), who lived in Tonbridge. In 1841 he observed this type of epilepsy in his own son, who was approximately four months old at the time. He published his observations from a scientific perspective in an article in The Lancet. He named the seizures "Salaam Tics" at the time.
Categories: Neurological disorders | Syndromes | Epilepsy
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "West_syndrome". A list of authors is available in Wikipedia.|