Family Facts or Menacing Marriage Myths

It has been written 100s of times and repeated 100s of thousands of times:

Family Together - Parents and Kids, Wheelchair“…about 70 percent of US couples with disabled children get divorced”

“…the divorce rate among parents of autistic children is 75 percent”

“…parents [of children with developmental disabilities] have an 80% chance of divorce”

“… estimates put the divorce rate among parents of children with severe disabilities as high as four out of five marriages.”

“…upwards of a 90% divorce rate if there’s a damaged baby in the house”

but there are two problems with these statements. First, THEY ARE NOT TRUE and, more importantly, THEY ARE DANGEROUS. Continue reading

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STAT Wunderkind: Dr. Hsiao-Tuan Chao

NEW3Dr. Hsiao-Tuan Chao, one of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital research team studying MECP2 duplication syndrome and related disorders, has been named as a 2017 STAT Wunderkind. This honor is awarded each year to recognize up-and-coming medical and biotechnology researchers whose careers are blossoming and are expected to be North America’s next generation of leading scientists. This year 27 “Wunderkinds” were selected for this honor out of more than 300 nominations.

Congratulations to Dr. Chao.

 

 

 

A metaphor for MECP2 testing

 

7heartsokAs more families affected by MECP2 duplication are discovering that sometimes the wrong tests have been ordered leading to incorrect information being given, this simple metaphor may be useful  for  understanding the difference between two MECP2-related conditions and how testing applies to them.

Imagine that you are helping out at major international championship card game. Continue reading

MECP2 Duplication is NOT Rett Syndrome

CAUTION2I hate to be writing this in 2017, but there still seems to be a lot of confusion between Rett Syndrome and MECP2 duplication syndrome. So let me start simply by saying, THESE ARE NOT THE SAME. They are very different and in some ways they are completely opposite of each other.

Nevertheless, a lot of people including a significant number of doctors, healthcare professionals, and researchers seem to be confusing these two conditions. I am not pointing out these groups just to pick on them; I feel like I have to point this out because patients and their families are relying on these people to provide appropriate care and advice. If they confuse these conditions, real harm can result. Continue reading

MRIs in MECP2 Duplication Syndrome

MRIThis post provides some information on MRI findings in MECP2 duplication syndrome. It is based mostly on one study by French researchers (El Chehadeh, S., Faivre, L, Mosca-Boidron , et al. 2016)

The study included findings from MRI brain scans from 30 individuals with MECP2 duplication syndrome. The sample included males and females from under one year old to 49 years old. The MECP2 duplications included short and long duplications, duplications on the X chromosome and translocations to other chromosomes. The study was designed to determine if other specific genes included in the duplicated material influenced the observed MRI findings, however, no systematic differences were found. There was some limited evidence of increased atrophy of some structures over time.

The researchers reported that 93% of the individuals studied had significant abnormal findings. Some of the most common findings included

abnormalities or underdevelopment of the corpus callosum (67% of individuals) The corpus callosum is the main connection between the right and left side of the brain. It was frequently described as poorly developed, thin, or missing.

reduced white matter volume (40% of individuals) White matter comprises the area of the brain where most connections are made.

ventricular dilatation (30% of individuals) The ventricles are hollow spaces in the brain that contain fluid

Half of the individuals studied were epileptic and almost all of those had poorly controlled seizures. There was no clear difference in brain structures  and presence or absence of seizures.

Some previous studies have reported similar findings.

One interesting finding was on head circumference. Most individuals were within normal limits, but there were some in the microcephalic range and others in the macrocephalic range.

Reference

El Chehadeh, S., Faivre, L, Mosca-Boidron , et al. (2016). A.Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. American Journal of Medical Genetics, Part A, 170A(1):116-29. doi: 10.1002/ajmg.a.37384.

Getting Back to Blogging

sleepThis is a short personal note. For anyone who might have missed these blog entries over the past months, I apologize. Starting this past spring, I have been having some health issues of my own. Dealing with these issues has taken up a lot of my time, and my energy level has been limited.

I am happy to say that I am doing somewhat better, and want to start posting again. Thanks for your patience. Time to wake up.

Cannabidiol Update

strThis week the New England Journal of Medicine published a double-blind study on the effectiveness of Cannabidiol (CBD) on seizures demonstrating that it was safe and effective for kids whose seizures could not be effectively controlled with typical anticonvulsants. The publication of the study set off a media storm with the results reported in hundreds of newspapers and on electronic media. The actual study focused on individuals with a Dravet syndrome diagnosis and so it is difficult to know how well it can be applied to individuals with MECP2 duplication. Nevertheless, there are some interesting findings and likely impacts with potential implications. Continue reading

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

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.