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.  

How common are seizures in dup15q syndrome?

Seizures are common in individuals with dup15q syndrome. They can happen at any age, but are commonly begin at times of growth and change, such as infancy and puberty. If you believe your child has had a seizure, please consult your neurologist.

Seizures represent an important medical feature of dup15q syndrome. Over half of all people with dup15q will have at least one seizure. Seizures most often begin between ages six months and nine years usually involving multiple seizure types including infantile spasms and myoclonic, tonic-clonic, absence, and/or focal seizures. Seizure onset can occur up through puberty and young adulthood in this population.  Affected individuals may start with one seizure type, with other types emerging as the individual ages.

Dup15q syndrome is one of the most common known causes of infantile spasms. Infantile spasms in individuals with dup15q syndrome often progress to Lennox Gastaut syndrome and other complex seizure patterns that may be difficult to control. As many as 40% of individuals with seizures present initially with infantile spasms; of this group, approximately 90% subsequently develop other seizure types.

Children with epilepsy have been found to have lower cognitive and adaptive functions than those without epilepsy.

What should Medical team do prior to seizures?

Since seizures are so common in dup15q syndrome 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.

  • Establish care with a Neuro regardless of seizure presence
  • Baseline EEG, ideally an overnight 24-hour EEG
  • Annual 24-hour EEG as needed

Patients with dup15q syndrome feature a distinctive electroencephalography (EEG) signature or biomarker in the form of high amplitude spontaneous beta frequency (12–30 Hz) oscillations.

Patients with dup15q syndrome have shown abnormal sleep physiology with elevated beta power, reduced spindle density, and reduced or absent SWS compared to age-matched neurotypical controls.

Both of these EEG disturbances are in the absence 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 a 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. Afterward, it is common for the person to be tired and confused.

If your child has had 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 seizure lasts more than 5 mins and/or you have to administer rescue meds, call 911/head to the emergency room.  Afterward, it is common for the person to be tired and confused.

What are the next steps after a first-time seizure?

For a 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: 

An electroencephalogram(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: 

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 a 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 to 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 benzodiazepine 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.