This entry starts a short series on bone density and risk of fractures in children and adults with MECP2 Duplication Syndrome. May be a good place to start is to say that bone density issues are not well recognized as a characteristic of MECP2 Duplication Syndrome. Nevertheless there are a number of reasons to suspect that bone density issues and fractures are special concerns for individuals with MECP2 Duplication Syndrome.
First, in May 2011, when families got together in Houston for the first MECP2 Duplication Syndrome Family Conference, Continue reading
Something very unusual appears to be happening related to the birth of some babies with MECP2 Duplication Syndrome. Some mothers report that there babies with MECP2 Duplication Syndrome were premature, but a number of others say that their child was born full-term on or near the expected due date but that a pediatrician or neonatologist who examined their baby right after birth told them that they were mistaken and physical examination made it certain that their babies were premature. Continue reading
Back when I was going to school, I learned that on average every human being is a carrier for about 8 different genetic defects. That was a long time ago, long before many modern advances in genetics including mapping of the human genome. We now know that most people are carriers of at least 400 genetic variants, and this number is likely to increase as genetic science progresses. Continue reading
19 June 2012 Part 1 of this topic addressed the frequency of pneumonia or lung infection episodes among individuals with MECP2 Duplication Syndrome and Part2 addressed the severity of these episodes. Part 3 discusses treatments. Continue reading
19 June 2012 Part 1 of this report discussed the number of episodes of pneumonia and lung infections experienced by children and adults with MECP2 Duplication Syndrome. In this part, information is presented on the severity of these infections and the impact on the individual. Continue reading
18 June 2012 Thank you to all the families to took time to answer a few questions about pneumonia and their family members with MECP2 Duplication Syndrome. This is not a scientific survey and it is not based on a random sample, but rather on families that chose to respond. This could affect the results although the large number of responses in comparison to the relatively small number of known cases suggests that it has some value. In addition, the only demographic data collected was age. This survey does not differentiate between males and females or between individuals with duplications and individuals with triplications. Here are some preliminary results. Continue reading
18 June 2012 This poll is now closed. Results will be posted shortly. Please take a few minutes to help us collect data on pneumonia and lung infections. It is important that we collect information from on as many individuals with MECP2 Duplication Syndrome as possible. Please complete one survey for each member of your family who has MECP2 Duplication Syndrome, even if that family member has never had pneumonia. If you know other families who have MECP2 Duplication Syndrome, please let them know about this survey. Thank you.
Here is a truly great resource. From Unique in the UK. The Unique organization describes themselves as follows: Continue reading
NNZ-2566 is a drug that intends to reduce brain inflammation. Much of its development has been funded by the military since it is hoped that this drug could reduce the effects of brain trauma. Now the Neuren Corporation is planning clinical trials with children with Rett syndrome and is currently developing the protocol for the trials. Continue reading
This post is largely a discussion on one article on seizures in MECP2 Duplication Syndomre:
In 2009, Echenne and colleagues published an article on epilepsy in five boys with MECP2 Duplication Syndrome. They suggest that the seizures, EEG patterns, and MRI findings MECP2 Duplication syndrome are unique in some respects and recognizing them can become a key to diagnosis MECP2 Duplication Syndrome. Continue reading