Monthly Archives: April 2017

Drop Seizure or Drop Seizure???

SeizureDrop seizures are extremely common among individuals with MECP2 duplication syndrome. There is a sudden loss of muscle tone, and if the individual is not supported, he or she drops suddenly to floor, sometimes resulting in injury. Usually these are brief and it is over in a second, but sometimes they come in clusters.

While these drops are certainly one of the most, if not the absolute most, common seizures in MECP2 duplication syndrome, there are actually two kinds of “drops” that look pretty much the same, but are fundamentally very different. It is hard to tell them apart, and at least some individuals with MECP2 duplication syndrome, have both kinds. It may be helpful to figure out which kind is occurring, but it can be really hard to figure out, and it appears that at least some individuals experience both atonic and myoclonic drops.

So what’s the difference?  ATONIC VS MYOCLONIC-ATONIC Continue reading

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PubMed: Finding studies

lightbulbAfter my last post, I heard from quite a few people asking how they could find MECP2 Duplication Syndrome research articles and some wanted to more specifically know how to find articles from specific countries. PubMed is a great tool for finding this kind of information and it is available for free to everyone thanks to the the United States National Library of Medicine, National Institutes of Health. For those interested in finding research articles who are not already using PubMed or other similar tools, here is some basic information to help get you started.

A good place to start is this PubMed web Page. This provides a search window and and lots of helpful hints and tutorials that can help you use this database to find the information you are looking for.

If you want to become an expert or if you get stuck, you can watch some of the tutorials, but most people can find what they are looking for if they dive right in and do some searching. So here is an example.

At the top of the page the search window looks like this.

Books Continue reading

A global research snapshot

Here is some good news! More and more researchers from around the world are doing research that focuses on MECP2 duplication. Here is a quick snapshot of 30 recent studies published in 2016 or early 2017 that shows where the research is being conducted.

Studies

This shows  that increasingly MECP2 duplication syndrome is being studied in countries around the world. While the United States and China account for half of these studies, 11 other countries are contributing to the research efforts.

Vitamin D & Respiratory Infections

DI’ll try to make this short. Here are eight facts:

  1. Although we do not have actual statistics, a significant number of children and adults with MECP2 Duplication Syndrome have been tested and found to have abnormally low levels of vitamin D.
  2. The reason or reasons for this are not well understood. Limited exposure to sunlight, some medications (e.g., anticonvulsants) can lower levels of Vitamin D), dietary issues may play a role.
  3. Low bone density (including osteopenia and osteoporosis) low-energy fractures, and skeletal deformities have been reported frequently among individuals with MECP2 duplication.
  4. Individuals with MECP2 duplication typically have increased frequency of respiratory infections.
  5. While at least some factors that contribute to this increased risk are well known (e.g., weak immune response, aspiration) are will known, this increased risk appears to be the result of multiple interacting factors.
  6. A large body of research suggests that Vitamin D deficiency plays a role in lowering resistance to respiratory infections.
  7. This research DOES NOT provide evidence that supplementing vitamin D beyond recommended levels is helpful.
  8. Too much Vitamin D is not helpful and can be toxic.

Most of these facts have been well known for many years.

CONCLUSION: Considering these facts, families may want to ask their child’s doctor about checking vitamin levels, and supplementing if needed. Continue reading