Recently I had a mother reach out to me and suggest that a topic I might want to explore on the site was the topic of Infantile Spasms and Down Syndrome.
I am in a number of facebook groups for parents of children with Down Syndrome and this was not a term unfamiliar to me, however, the extensive research that would be done by a mom in this situation was not something I was yet familiar with. That’s when I did what I do best…I asked a mom to tell her story.
Let me start by introducing the term: Infantile spasms (IS) is a rare seizure disorder that occurs in young children, usually under one year of age. The average age of onset is around four months, but some children may experience spasms as early as one month. A few children may begin as late as two years. Only about 2,500 children in the US are diagnosed each year with IS. It often has a very subtle appearance so it is difficult for parents to recognize that it is a serious problem. (childneurologyfoundation.org)
How common is this diagnosis for children with Down Syndrome?
While infantile spasms are serious, they are not common. Estimates suggest 1 to 3 percent of children with Down syndrome will develop infantile spasms, while the highest estimate places that figure around 13 percent. (globaldownsyndrome.org)
So what does a parent need to look for?
The classic pattern of infantile spasms features slight head bobbing, which becomes more rapid over time.
In most cases, the spasms occur in clusters. They repeat every five to 30 seconds, sometimes 10 to 40 times in a single cluster; the cluster usually continues for two to three minutes but can be several minutes. The spasms become less intense and farther apart as the cluster progresses.
A child may have several clusters per day. The seizures rarely occur while a child is asleep, and often happen just after he wakes up. He may be quiet before and during the attack, or he may cry or even laugh between spasms. After a cluster of spasms, he may be exhausted or more alert. (aboutkidshealth)
But, what does this look like for a parent? Leah shares her daughter, Mae, and hopes to help any other parent recognize these symptoms right away to seek treatment if necessary.
As a parent of a child with Down syndrome, we all know that the extra chromosome that makes our children so cute can also cause various health issues. Infantile spasms (IS) is one of those issues, and one that can unfortunately be easily missed in children with Down syndrome.
My daughter, Mae, is six months old. Last week my husband and I noticed that she looked like she was trying to sneeze. Her head came slightly forward, eyes slightly squinted and then widened. She repeated this four times in a row, and I immediately became concerned, as our physician had warned us of her risk for infantile spasms. We called the neurologist and had an EEG two days later.
Based on the EEG results they diagnosed her with infantile spasms and she was started on medications to help stop the seizures and hopefully cure her of IS. We are thankful that we had a physician tell us about the increased risk for IS in children with Ds so that we would know what to look for. As we have waited for the medications to work, her spasms have become more pronounced:
Infantile spasms is a seizure disorder that occurs in young children, usually under one year of age. These spasms can appear very subtle, with some children presenting with just little head drops, while others will have a slightly more obvious appearance referred to as “jack knifing”, where their head drops forward and their legs pull up. At times these movements can look like a normal startle reflex, colic, or reflux.
Early diagnosis is key for Infantile Spasms; as if it is left untreated it can cause significant developmental delays and increases the chances for autism.
The only way to diagnosis or officially rule out Infantile Spasms is through an EEG. An EEG is a test, which entails electrodes attached to the child’s head (sometimes with glue, sometimes with a substance similar to an emulsion lotion). The EEG will be attached to the child for a certain period of time (typically 1-4 hours) to evaluate for abnormal brain wave patterns.
This has been a very overwhelming experience for my family. We feel like we are still reeling from our birth diagnosis as well as the various other health issues Mae has faced so far in her short life. We are hopeful that the medications will work for Mae and that we will be able to put this all behind us soon. We are so thankful that we were able to diagnosis Mae quickly and I hope this information helps others if they are unfortunately in the same situation with their little one.
Leah lives in Madison, Wisconsin with her husband Pete, 6 month old daughter Mae, and pup Roscoe. She is a pediatric nurse who loves the outdoors. You can find her on instagram @lkechele