Researchers at the Washington University School of Medicine in St. Louis and the University of Chicago have launched the first world-wide online registry, to increase knowledge about infantile spasms.

An infantile spasm (IS) is a specific type of seizure seen in a childhood epilepsy syndrome known as West Syndrome. West Syndrome is also characterised by developmental delay and an EEG pattern called hypsarrhythmia ('chaotic' brain waves).

Infantile spasms usually begin in the first year of life, typically between 4-8 months. They tend to occur soon after waking or feeding, and often occur in clusters of up to 100 at a time. During an episode, the child will suddenly bend forward (as if performing a sit-up) and both their arms and legs will become stiff. Sometimes the child will also arch his / her back when extending their limbs.

Treatments for infantile spasms include injection with a hormone called ACTH (which results in the production of steroids by the body), and steroid medications such as prednisolone. Steroids can cause unpleasant side-effects, however, so some physicians prescribe anti-epileptic drugs (AEDs) such as sodium valproate or topiramate first, to see if they are effective. In countries where it is available, including UK, the AED vigabatrin is often a first-line treatment for infantile spasms.

The effect of infantile spasms upon a child's development depends if there is an underlying cause or not, how early the spasms are diagnosed and how well they respond to treatment. Some recover completely whilst others have a life-long learning disability. Unfortunately, although spasms usually disappear by the age of five years, they are often replaced with another seizure disorder.

What causes infantile spasms?

Underlying disorders, such as brain injury during birth and disorders of metabolism, can cause infantile spasms; and there also certain genes / genetic syndromes that are associated with the condition (e.g. Down's Syndrome). However in some cases, no cause can be found. Diagnosis can also be delayed, because the spasms are often confused with something else, e.g. pain from colic.

A lot more needs to be known about these types of seizures - and why certain children respond to treatments whilst others do not - in order to give those affected the best possible outcome.

The researchers in Washington and Chicago intend to use the registry to collect detailed information about the experiences, diagnosis and treatment of children with infantile spasms around the world. By analysing this data, they hope to identify patterns and similarities that will increase our understanding of the condition. Parents will also be invited to send DNA samples from their children, so that the genetic element of infantile spasms can be examined.

The preliminary questions that the scientists hope to answer are:

1. Which anti-seizure medicines are most effective in stopping spasms?

2. Why do some babies respond to ACTH and others do not?

3. How important is it to follow changes in the baby's brain wave (EEG) during treatment?

4. Are there genetic tests that can help doctors decide which anti-seizure medicine to use first?

5. Why do some babies with specific genetic syndromes (i.e. Down Syndrome) develop infantile spasms, and others do not?

6. What other genetic causes are there for infantile spasms?

Increased knowledge will potentially lead to better treatment of infantile spasms and a better prognosis for those who suffer from it.

For more information about the registry, please click here.

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