CDKL5 Phases of Seizure Activity 101

As mentioned in my previous post CDKL5 Genetics 101, a mutation on the CDKL5 gene causes negative repercussions within the brain.  Along with severe/profound developmental delay is of course the most visible "side effect"; seizures.   

Before I begin the "CDKL5 seizure guide", I will introduce you to some common epilepsy terms.

1. EEG: Electroencephalogram: a test that measures and records electrical activity of the brain
2. Abnormal EEG: When there are changes to the normal pattern of brain activity
3. Hypsarrhythmia: is an abnormal pattern on the EEG occurring in-between seizure activity, frequently encountered in an infant diagnosed with infantile spasms
4. Infantile Spasms: Clusters of short spasms that last several seconds and chaotic brain wave patterns on the EEG
5. Tonic seizure: tone increases and arms/legs stiffen and straighten
6. Refractory epilepsy: seizures that are not controlled with anti-epilepsy medications

The "CDKL5 seizure guide" can be broken down into three phases.  Early Epilepsy, Epileptic Encephalopathy, Late Multifocal and Myoclonic Epilepsy; Phase 1, Phase 2, and Phase 3 respectively. 

Phase 1

• Brief seizures beginning between 1-10 weeks old
• these seizures are less than 1 minute long
• can occur frequently
• approximately 2-5 a day
• The background of the EEG is normal in majority of cases except when a seizure is occurring

 “Typical" Development for a child with CDKL5 mutation at this time

• poor eye contact
• low muscle tone

Phase 2

• Infantile spasms 
• Brief tonic seizures
• Hypsarrythmia

 “Typical" Development for a child with CDKL5 mutation at this time

• profound mental delays
• low muscle tone
• no language or visual interaction
• no developmental progress

Phase 3

• Severe refractory epilepsy even with the use of anti-epileptic medications
• varied types of seizures 

 “Typical" Development for a child with CDKL5 mutation at this time

• profound mental delays
• low muscle tone
• no language or visual interaction
• slow developmental progress

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** It is unclear if every child with a CDKL5 mutation will follow the course mentioned in this post...this is based off of recent studies done on seizures and children with CDKL5 mutations.
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How does this relate to Sonya?

Right now we are finding ourselves in a sort of "holding pattern".  We seem to be in-between Phase 1 and Phase 2.  Sonya has "epileptic spasms", which are similar to the infantile spasms but with no hypsarrythmia.  She also has tonic seizures.  Typically she will have a seizure every 24-48 hours that lasts less than 3 minutes.  Occasionally this "one" seizure will present itself as a tonic seizure lasting 1 minute and then immediately followed by spasms lasting from 1-2 minutes.  During the spasms she has between 5-25 seizures within those 2-3 minutes.

There is a 50% chance that Sonya will never have the abnormal hypsarrythmia background. The treatment "options" we will be given at that time do not have a 100% success rate of eliminating the abnormal background, and the side effects can be fatal.  I will save that information for another days post.

I would much rather leave you with this gem.