Monthly Archives: September 2017

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

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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.