A few days ago, I posted a video (Drop Seizure Video) on this blog. It showed a girl having “drops” or what the video caption called “infantile spasms.” A large number of MECP2 Duplication Syndrome family members agreed that although their affected family members had many kinds of seizures, this looked a lot like what some of their drops look like. I definitely found this very interesting, since infantile spasms are generally described as starting before one year of age, and are very rare in older children or adults.
Thanks to the internet, I was able to find out more. I got some great leads from two colleagues in Kyoto Japan and Doha Qatar that led me to a couple of articles on Late Onset Spasms (LOS) that were published in the last few years. These also described something very similar to what we see in our affected family members. This led me to Italy and I e-mailed Federico Sicca who authored one of these articles telling him that I thought LOS was common in individuals with MECP2 Duplication Syndrome (thinking this would be big news to him). Federico kindly pointed me to a 2014 French article describing Late Onset Spasms in MECP2 Duplication boys.
Late onset epileptic spasms is frequent in MECP2 gene duplication: Electroclinical features and long-term follow-up of 8 epilepsy patients
So what I thought was big news turned out to be old news. It seem like it was only news to me. Nevertheless, new or not so new, this is interesting. First, there is now an official name for this kind of seizure activity, Late Onset Spasms that may be useful in talking to neurologists or other healthcare professionals. The article also includes an EEG page showing what the actual Spasm looks like in electrical activity.
The article also supports what other experts have generally proposed that the the MECP2 Seizure Disorder is unique and fits poorly into other categories like Lennox-Gastaut.
Roseline Caumesa, Odile Boespflug-Tanguya, Nathalie Villeneuved, Laetitia Lamberte, Catherine Delanoea, Bruno Leheuph, Nadia Bahi-Buissoni, Stéphane Auvina. Late onset epileptic spasms is frequent in MECP2 gene duplication: Electroclinical features and long-term follow-up of 8 epilepsy patients European Journal of Paediatric Neurology, Volume 18, Issue 4, July 2014, Pages 475–481