Category Archives: Symptoms / Not symptoms

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.


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.

Syndromes, Clinical Syndromes, Genetic Syndromes, and Associations

CAUTION2The term syndrome gets used a lot by healthcare professionals and by the public in general. Most people have a fairly good idea of what it means, but it may be helpful to look a little closer. Syndrome comes from a Greek word meaning concurrence, things that are commonly found together. So, syndrome is generally used to refer to a group or pattern of symptoms that typically go together.  That much is pretty straight forward. Sometimes, however, syndrome has a narrower, more specific meaning. Continue reading

Results of the Regression Survey

About the Survey

This survey was undertaken to determine the perceptions of parents or caregivers regarding regression in individuals with MECP2 Duplication Syndrome. The purpose of the study was to supplement the information provided in the study by Peters and colleagues in 2013. It differed from the published study in several important respects. Continue reading

Survey on Regression

checkboxIf you are a parent or primary caregiver of a child or adult with MECP2 Duplication Syndrome who is at least 3 years old, please take a few minutes to fill out this small survey on regression in individuals with MECP2 Duplication Syndrome. Please respond whether or not you have observed regression. Thank you.

Data collection for this survey closed on 30 December 2013. Results will be posted early in 2014.

DSM-IV / DSM-V: Autism, Rett, and MECP2 Duplication Syndrome

lightbulbThere has been a great deal of concern about “the removal of Rett syndrome” from the DSM-V. For those who aren’t familiar with the DSM, it is the Diagnostic and Statistical Manual of the American Psychiatric Association. Here is the issue: The DSM-IV had a category called Autism Spectrum Disorder. It included Autism and a few other things that were not exactly autism, but shared some features of autism. Included in the Autism Spectrum Disorder was Rett Syndrome. So it defined Rett syndrome as part of the spectrum but different from AUTISM itself. The new definition makes no mention of Rett syndrome and many people interpret that as saying that Rett syndrome has been taken out of the DSM. Continue reading

Poll on Body Temperature Regulation

This Poll is now closed. Results are posted here.

This poll is intended for families or primary caregivers of individuals with MECP2 Duplication Syndrome. Please only respond once for each individual. Please CHECK ALL ANSWERS THAT APPLY. More information is provided below the poll to explain the choices. Continue reading

Welcome to MECP2 Duplication Syndrome Awareness Month

Spread the news in July

July 2010 is officially designated as MECP2 Duplication Syndrome Awareness Month in the State of Pennsylvania, but it would be great if the rest of the world followed the lead of the Keystone state and joined in. Individuals and families affected by this condition need to raise public awareness as a first step toward improving treatment and quality of life.

So, there are two simple things that you can do to help:

One, take a few minutes to learn something about this condition.

Two, take a few more minutes to share what you know with one or two other people.

Here are 31 facts about MECP2 Duplication syndrome one for each day in July.  Please consider sharing one or a few of these facts with two or three people you know and encouraging them to do the same during the month of July 2010. Continue reading

Autonomic Symptoms?

While Rett Syndrome and MECP2 duplication syndrome are generally considered to share many features, one difference sometimes mentioned is that symptoms of autonomic nervous system dysfunction often are reported in Rett syndrome but not in MECP2 duplication syndrome. However, there may be more autonomic symptoms with MECP2 duplication syndrome than are currently recognized.

So, what is the autonomic nervous system and what are symptoms of autonomic nervous system dysfunction? Continue reading