Friday, July 15, 2016

CDKL5 Phases of Seizure Activity 101 (Version 2)

It has been awhile since I have posted about the types of seizure activity that children who have a CDKL5 mutation may have.  There might be other types of seizures and some children with a CDKL5 mutation may not experience every and/or all types listed below.  This should be used as more of a guide of what type of activity may occur.  As mentioned in a previous post CDKL5 Genetics 101, a mutation on the CDKL5 gene causes negative repercussions within the brain.  Along with severe/profound developmental delays 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. Clonic seizure: repeated shaking of the body
  7. 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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Where is Sonya on her epilepsy journey?

We feel that currently Sonzee is inbetween Phase 2-3.  She finished treatment for Infantile Spasms (IS) back in April.  Since then she has not had any visible spasms and her background came back with no hypsarryhthmia during our last EEG we feel she is out of Phase 2.  However, IS and hypsarrhythmia can come back at any point until she is 2 years old.  After she turns 2 if she would continue to demonstrate spasms and have the hypsarrhythmia background it would then be referred to as Lennox Gasteux Syndrome.  Right now she has mainly tonic/clonic seizures, where her body will stiffen and then shake or have random movements.  They can last upwards of 5 minutes at a time.


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