Infantile Spasms

First, a disclaimer. This is not medical advice. We are not doctors. We are parents who had a child with IS and helped create a support group on social media through Happiness Is Down Syndrome. We help other parents as they navigate infantile spasms.

What are they?

Considered a medical emergency, Infantile Spasms are a rare form of epilepsy that can affect babies, typically before age one. However they can occur later in some children. The spasms look like a sudden stiffening of muscles in the baby's arms, legs, or the head may bend forward. The seizures occur in a series of short spasms, less than a second in length. Left untreated they can cause some significant damage and loss of milestones.

In the Down syndrome community it is estimated that between 3-5% of our children will have infantile spasms. Although it is rare, even within our community, it's important to know the signs as it is the most common from of epilepsy seen in our children. And our children are at risk for being misdiagnosed because they have Down syndrome.

What do you need to know?

Infantile spasms in babies with Down syndrome can present a bit differently and have different outcomes than what is seen in the general population. Because of this, it’s difficult to find information about Down syndrome and IS that is helpful for parents of children newly diagnosed with this. At least that was our experience. So, we’ve compiled some information for you from personal experiences. This information was gleaned from real families in the DS community who have already traveled this road. You can also read some of their personal stories below.

First and foremost, know that YOU ARE NOT ALONE. And you WILL get through this. It’s a hard diagnosis to process but just know that your son or daughter is resilient, and you will learn through this experience just how tough they are. You will also learn a thing or two about yourself.

This diagnosis can be difficult to process. Treatment is hard. But we pray that in the end you will see that this was just a brief part of your journey, and we hope that you come out stronger on the other side.

Please reach out if you need someone to talk to.

Reach Out

facts about infantile spasms and down syndrome

· Infantile spasms are a rare form of epilepsy.

· They typically begin between 5-8 months of age and can happen to anyone, but this page is dedicated to children who have both DS and IS.

· In the Down syndrome community, IS can affect anywhere between 1-5% of babies.

· Boys appear more likely than girls appear to be affected.

· Infantile spasms are subtle. They look a bit like an infant startle but not completely. They are quick jerky movements typically involving both the arms and legs. They almost look like a crunch. Sometimes they can present as head drops or head bobbing, which can easily be mistaken for low muscle tone in our children.

· IS can occur in a series of repetitive motions or as single events, which can make their diagnosis even more difficult. This happened to us because our son’s spasms did not occur in clusters (which is the most common way they occur).

· In many children, caregivers notice a plateauing of milestones prior to diagnosis, and if left untreated IS can cause a regression in milestones. Will, for example, stopped rolling over right before we were diagnosed. He also lost the ability to eat from a spoon, and his ability to swallow properly was affected. Both of these things came back to him post treatment.

· Not all doctors are familiar with IS, so it’s important to know what the signs are and be ready to demand an EEG if needed.

· Infantile spasms are diagnosed through an electroencephalogram or EEG. They produce a very specific pattern of brain waves known as a hypsarrhythmia.

· The best thing you can do if you believe your child is doing this is to record a video and head to the ER. Again, many doctors are unfamiliar with IS. This was our experience. Even after we had a video we had two doctors tell us they were nothing to worry about.

· Early treatment is important, which is why we recommend you go straight to the ER and not wait for a neurology appointment, which can sometimes take a long time to get.

· Infantile spasms are considered an emergency because they can cause damage to the brain if left untreated.

· Treatment varies from country to country and even within the US. But many children are prescribed a high dose of prednisolone as a frontline medication. Other medications that have been used by members of our support group are ACTH and vigabatrin.

· All of these medications do have some unpleasant side effects, but they are temporary.

· Many children are prescribed a very high dose of the steroid prednisolone. The side effects of this medication can include, but are not limited to, weight gain, puffy cheeks, severe irritability, insatiable appetite, reflux, high blood pressure, decreased heart rate, adrenal fatigue, and temporary loss of personality, including smiling (just because the medicine makes them feel so lousy).

· The good news is, many believe that our children with DS respond to treatment better and faster than the neurotypical population. But that does not always mean that the first meds will work. Sometimes a combination of drugs is needed.

· Treatment is hard, so if you have a community or family to help, lean on them. We had meals coming to the house for almost a month. If you need community, know that we are here for you. We have a growing family of moms on social media who have walked this journey. But we also have moms available to chat with you personally if you do not want to be part of a larger social media chat.

· We also offer a care package for families going through IS.

Thank you for being here. We hoped you learned something and most importantly we pray that if you are going through IS right now you see how much hope there is for your son or daughter. Please read about some of our amazing warriors below. And if you have questions, please reach out.

What are Infantile Spasms?