Clinical Care Steps for Seizure Onset and Beyond

What is a seizure?

A seizure is abnormal electrical activity in the brain.  It is sometimes described as an electrical storm. There are many different seizure types and they can each look very different.  For a description of the seizure types, please check out our webpage: https://www.dup15q.org/care/seizures/

How common are seizures in dup15q syndrome?

More than 60% of individuals with dup15q syndrome develop epilepsy in their lifetime.

Seizures most often begin between age 6 months and 9 years.

What should Medical team do prior to seizures?

Since seizures are so common in dup15q sydnrome and can often go undetected, it is the recommendation that as soon as a family receives a diagnosis of dup15q syndrome they reach out to receive the care of a neurologist, even before seizures are suspected.  It is recommendended that the patient with dup15q syndrome undergo a baseline EEG, ideally an overnight 24-hr EEG to look at brain activity and any concerning patterns.  The EEG in transition to sleep in dup15q has been documented as being abnormal and additionally there is an EEG signature slowing that has been published as well.  Both of these EEG disturbances are in the abscence of seizures.  

I am not sure my child is having a seizure, what should I do?

If you see concerning signs/behaviors in your child, the best thing that you can do is take a video.  Try to get their full body in the frame to catch any movements of hands/feet/arms/legs and try to have enough light to see them clearly.  This is the best way to capture these concerns and send them to your doctor/neurologist so that they can see them.  Contact your doctor/neurologist via their clinic and explain your concerns and tell them if you have a video/send them the video.  They can then direct appropriate care. 

What should I do if my child has a seizure?

First Seizure: Make sure they are in a safe place where they are not in danger of getting hurt.  If possible, lie them down on their side. Do not put anything in their mouth. Look at a clock and determine the time when the seizure started, get video if you can.  If you are under the care of a neurologist page the neurologist on call, if not call 911. Keep track of how long the seizure lasts. Afterwards, it is common for the person to be tired and confused.  

If your child has has seizures before: Make sure they are in a safe place where they are not in danger of getting hurt.  If possible, lie them down on their side. Do not put anything in their mouth. Look at a clock and determine the time when the seizure started.  If you are under the care of a neurologist page the neurologist on call or what their preferred protocol is for contact.  Keep track of how long the seizure lasts, if the serizure lasts more than 5 mins and/or you have to administer rescue meds, call 911/head to the emergency room.  Afterwards, it is common for the person to be tired and confused.  

What are the next steps after a first time seizure?

For first time seizure, often times the ER is the first stop. After the ER visit, a referral should be made to a neurologist, if you don’t already have one.  Ideally, an appointment would be made with a neurologist within 1-2 weeks, but the wait time can sometimes be long, depending on your region. If you live near a Dup15q clinic, you may want to be seen by a clinician familiar with dup15q syndrome: https://www.dup15q.org/care/dup15q-clinics/

An electoencephalogram(EEG) should be ordered.  The decision to start a daily seizure medication after a first seizure is up to you and your neurologist.  Sometimes the EEG results are used to guide the decision. Other times, a daily seizure medication may be started after the first seizure given the high prevalence of seizures in the dup15q population. The first choice of my medication will depend on the seizure type.  Clinicians may want to refer to our website for more information about seizure treatment: https://www.dup15q.org/care/seizures/epilepsy-treatment/

What are some important things to do afterwards?

Keeping a seizure log is helpful to keep track of how often the seizures occur and if there are any patterns.  You can keep a pen/paper log on a calendar or there are several online resources, such as seizure tracker, my seizure diary, etc.  You should be in touch with your neurologist if the seizures continue despite being on medication. At that point, the medication may need to be changed to a different one, or a second medication may be added on.  

What about follow up visits and studies?

Follow up visits with a neurologist are variable.  If seizures remain under good control, an annual visit may be sufficient.  If seizures remain uncontrolled, there will likely be continued follow up throughout the year with office visits, telephone calls, etc.  The Dup15q Alliance clinics working group recommends an annual EEG with additional 24 hour EEG monitoring as needed.

What are rescue medications?

Your neurologist may prescribe a rescue medication to help stop a prolonged seizure.  Most rescue medications are in the benzodiazepene class of medication. Some common ones are diazepam (Diastat, Valium), lorazepam (Ativan), midazolam (Versed), etc.  Your neurologist should give you directions on when to use a rescue medication but is usually indicated for a seizure lasting more than several minutes or several seizures in a row.  It does not necessarily need to be used for every seizure.