Infantile spasms (IS) is a rare but serious form of epilepsy, which occurs mostly in babies under the age of one (although occasionally in children with Down syndrome it can begin later). IS affects around 400 children a year, and around 3% of children with Down syndrome.  

IS is caused by chaotic electrical activity in the brain. This activity can result in a range of symptoms, the most obvious being spasms, which are a form of seizure. Spasms normally happen in clusters, with a pause of a few seconds between each one. They can look like a head drop, or an exaggerated startle reflex. Some children may also begin to slow down in their development or lose skills. This is less likely if the spasms are caught early. IS also causes chaotic brain activity which can be seen on a test called an EEG. You may hear IS being referred to as West syndrome – this is the combination of spasms, loss of skills, and chaotic brain activity. 

Play Video

Introduction to infantile spasms

The single most important thing you can do to protect your child is to be aware of what IS looks like so that you can take prompt action if your child has spasms.

At DSUK we work with the UK Infantile Spasms Trust (UKIST) who we recommend you connect with.  UKIST has an awareness video on its website that all parents of young children with Down syndrome should watch. 

IS can look quite subtle but can have big consequences, including increased learning disability and an increased likelihood of seizures in the future. Quick diagnosis and treatment of IS gives your child the best chance of a good outcome. 

Remember: there are several things that can cause worrying movements, most of which are not serious. However, if you have any concerns that your child is experiencing spasms you should seek expert advice as it is a medical emergency. It is not the time to worry about making a fuss! 

If your child does have IS, it can be a very scary time. You’re not alone – several PADS parents have been on this journey with their children, and the UK Infantile Spasms Trust can also offer support. 

Frequently Asked Questions

Infantile spasms are a medical emergency. If you think that your child is having spasms, you should: 

  • Try to film the spasms if possible. This will allow a paediatrician or neurologist to review the movements.
  • Take your child to the nearest paediatric A&E. You can find your nearest A&E here, and whether they accept children.

  • Ask for your child to be reviewed urgently by an experienced paediatrician and/or neurologist. As IS is relatively rare, it is important that your child and the video (if you have been able to get one) are assessed by someone with experience in IS.

  • Insist on an EEG. An EEG is a test which will allow a neurophysiologist to assess the electrical patterns in the brain. IS comes with a distinct pattern of chaotic brain activity called hypsarrhythmia, which can be seen on an EEG. An EEG is the only way to accurately diagnose IS. Not all hospitals have the ability to do EEGs, so you may need to be referred elsewhere. However, it is important this happens quickly (within 3 days).

As IS is relatively rare and causes damage more quickly than some other common types of epilepsy, The standard advice for childhood epilepsy is to have a referral to a specialist within two weeks and an EEG within four weeks, and this will likely be most familiar to the doctor you are talking to. However, IS is different and requires more rapid action, so there is a chance that you may need to strongly advocate for your child to help them to get the urgent attention that they need. 

The doctor who first sees your child may not have come across IS before – a GP, on average, would have to practice for 300 years before seeing a case of IS. Therefore, being able to signpost a non-specialist doctor to good research and guidelines on IS may help to get the appropriate tests and treatment quickly. 

 There are some things that it may be worth highlighting to the doctor reviewing your child, particularly if that doctor is not a specialist. 

  • Guidelines are that children with suspected IS should have an EEG within 3 days. Many forms of epilepsy do not require the same rapid diagnosis and treatment of IS. An example of clinical guidelines from Sheffield Children’s Hospital are here, and you may wish to share these. Be clear about what you are asking for: “I would like my child to be reviewed by an experienced paediatrician today and referred for an urgent EEG in line with clinical guidelines.” The doctor may refer to NICE guidelines which state that children with epilepsy should be seen within 2 weeks and have an EEG within 4 weeks. This is not appropriate for IS – please refer the doctor to the Sheffield clinical guidelines and the study by O’Callaghan et al below.
  • Spasms can be less obvious in children with Down syndrome. Low tone can make the spasms less obvious, and the developmental delay associated with Down syndrome means that it can be harder to spot developmental changes or loss of skills. If you feel that your worries are being dismissed because of Down syndrome, this is called ‘diagnostic overshadowing’. You could ask “how would you deal with this if my child didn’t have Down syndrome?” or point out that “Given IS is more common in children with Down syndrome then the general population, I feel that these concerns should be taken more seriously because she has Down syndrome, as the risk is significantly higher.”
  • Any delay in diagnosis and treatment can have an impact on outcomes. A large scale, international study by O’Callaghan et al found that “increasing lead time to treatment is significantly associated with decreasing developmental score at 4 years in all infants with infantile spasms”, and that this was true for any delay in treatment. If you are struggling to get an urgent referral, please ask the doctor to look up this study before making a decision. (O’Callaghan et al, The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: Evidence from the United Kingdom Infantile Spasms Study, Epilepsia, 52(7):1359–1364, 2011, doi: 10.1111/j.1528-1167.2011.03127.x)
  • If you are still concerned that your concerns are not being addressed, it may be worth being explicit about what you feel the risk is. “Are you 100% confident that any delay in referral/diagnosis/treatment will not risk permanent damage, and if not, are you saying that you are comfortable taking that risk?”