Getting Started with The Database

Those of you who were at the Houston Conference heard exciting news about the development of an international database on MECP2 Duplications. Whether or not you were in Houston for the conference, this is an opportunity to participate in an exciting project. Registering your child in the database is something that you can do to help move research along. It’s free, easy, and you can do it right now. The sooner we get our boys and girls registered, the faster the project will move toward benefiting our loved ones.

To get started you can go to Go to interrett.org.au

2nd MECP2 Duplication Syndrome Family Conference

The 2nd MECP2 Duplication Syndrome Family Conference will be held in Houston, Texas, March 27-29, 2013.  To download a conference brochure, use this link: 2013 Houston MECP2 Conference Brochure   [Click on this link to download Conference Brochure]. The conference will be held at the Hilton Plaza Medical Center Hotel:

5hmC and A new role for MECP2?

5-hydroxymethylcytosine (5hmC) is a substance found in many cells and particularly in the brain cells. Although there is much that remains unknown about it, it has been receiving a lot of attention from researchers because of its apparent pole in epigenetics. Epigenetics refers to the process by which gene expression is modified by non-genetic factors, such as external environmental influences.  For example, our DNA may determine the likelihood that we we will develop high blood pressure later in life, but this can be modified by a lack of an adequate diet in childhood or even our during our mother’s pregnancy. Our DNA is not altered but some genes may be “turned up” and others “turned down” by our other factors.  Exactly how these processes work is currently a major research area for many researchers, and  some researchers believe that 5hmC may be an important piece of the puzzle.

Bone Density, Osteopenia, Osteoporosis, and Fractures: Part 1

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,

AKA MECP2 Duplication Syndrome

Over the years, MECP2 Duplication Syndrome has been also know as (AKA) a number of other names. Some of these might be considered to be exact duplicates. Others are overlapping categories. Here is a short (and likely incomplete)  list of names, posted here for two reasons. (1) this may help families or other interested people to find this website if they have been given one of the other names. (2) If anyone is searching for information regarding MECP2 Duplication Syndrome, they may have better results if they use a number of these search terms.

IUGR? MECP2 and IntraUterine Development

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.

Major Breakthrough on Understanding Infections & MECP2 Duplication

The cover story in this weeks Science Translational Medicine reports on a new study that provides knowledge that is a critical first step in understanding the immune deficiency among individuals with MECP2 Duplication. Researchers found that both children and adults with the syndrome and lab mice with MECP2 Duplications lacked the ability to produce gamma interferon from specific T cells.

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

There 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.

New Study on Autism and MECP2 Duplication

Sarika U. Peters, Rachel J. Hundley, Amy K. Wilson, Zachary Warren, Alison Vehorn, Claudia M. B. Carvalho, James R. Lupski, Melissa B. Ramocki. (2012). The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism, Autism Research, published 20 Nov 2012

A new article published in Autism Research compares the behavioral characteristics of boys with MECP2 Duplication Syndrome to the behavioral characteristics of boys with idiopathic autism (i.e., autism that is not known to be secondary to some other condition).

More on the Berlin Clinical Course Study

A family. we have decided to take part in the Clinical Course of Patients with MECP2 Duplication Syndrome Study. There was previous post on this study back in July. We have received the survey and are working on getting filled out and returned.

This is a potentially important study that could be very helpful in leaning how to better treat infections in children and adults with MECP2 Duplication Syndrome. There are two parts to the study: (1) A survey to be filled out by a physician with access to a complete health record, and (2) submitting blood and tissue samples. Families who choose to participate can choose to take part in both of these or to take part only in the survey part.