Category Archives: Uncategorized

Potential Research Participation

strApril 2015 One way that affected children and adults and their families can help research is by participating in studies. … And Nashville is a great city to visit.Dr. Sarika Peters at Vanderbilt University seeks enrollment for language/auditory , MECP2 Duplication Syndrome, Rett Syndrome‬ ‪‎and MECP2-related disorders research project, funded by a Rettsyndrome.org HeART grant. Only one visit, approximately two hours in length, is required at Vanderbilt in Nashville. A $50 gift card will be offered to each participating family, reduced hotel rates can be arranged as necessary, and free on-campus parking will be extended. Download flier  for enrollment details.

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MECP2 Consortium Update – Breaking Down the Walls/ RSRT Blog

flaskToday’s post in the Rett Syndrome Research Trust Blog provides an important update on the work of the MECP2 Consortium and its quest to determine the functions of the MECP2 protein. The Rett Syndrome Research Trust Blog is a great general resource for keeping up with the science working toward all the MECP2-related disorders.

Checking Vitamin D

DI need to start this post with a disclaimer. This post suggests that it may be worth asking your child’s doctor about checking Vitamin D levels if your child has MECP2 Duplication Syndrome. If there are signs of deficiency, it suggests discussing supplementation with the doctor. It is not intended to recommend supplementing vitamin D unless a deficiency is identified or without your child’s doctor’s approval, and it is not recommending excessive doses of vitamin D. Having said that, here are the reasons that checking might be worthwhile. Continue reading

Study on Assessment of Language and Learning

The following is a notice of a study on Auditory Assessment of Language and Learning in MECP2 Duplication Syndrome and other MECP2 Related Disorders conducted at Vanderbilt Kennedy Center for Research on Human Development. Families interested in participation can contact Amy Wilson, Coordinator for the project:

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MECP2 Related Syndromes: Research Opportunity

Auditory Assessment of Language and Learning

Vocabulary Assessment

We will use the Peabody Picture Vocabulary Test (IV addition) to assess your child’s current language level. This test was chosen because it does not require a verbal response.

Auditory Processing* – Language and Learning

Your child will listen to several different “sets” of words and nonwords, and to a “set” of names (some familiar to them). This task only requires your child to sit and listen while wearing modified EEG electrodes. These electrodes are part of a cap that is placed on the child’s head. The cap uses salt water to transfer brainwaves and is very easy to place on the child’s head and remove.

We are recruiting, 15 patients with genetically confirmed RTT, 15 with genetically confirmed MECP2 duplication syndrome, and 30 typically developing children (for comparison). Participants will need to be between the ages of 4 and 10 years old.

*Because of the auditory tasks, we will conduct a quick hearing screen on each participant.

If you are interested or would like more information regarding our study, please contact: Amy Wilson, Program Coordinator   615-322-8093  amy.k.wilson@vanderbilt.edu

vanderbiltThis research and graphic services were supported in part by NICHD Grant P30 HD15052 to the Vanderbilt Kennedy Center for Research on Human Development. The Vanderbilt Kennedy Center is devoted to unlocking the mysteries of the brain and child development, and improving the lives of people with disabilities. kc.vanderbilt.edu

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The Gene Hunt and Developmental Disabilities

17 April 2012 Today’s issue of nature includes and article titled “Gene hunt is on for mental disability: Pioneering clinical genome-sequencing projects focus on patients with developmental delay.” It describes some of the relatively recent  developments in the widespread use of partial- and full-genome testing for developmental disability syndromes. According to the article:

Joining the hunt is a UK-based programme called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes [sections of DNA that are known to cause actual attributes in individuals] by the year’s end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay. A Canadian project called FORGE (finding of rare disease genes) aims to sequence children and families with 200 different disorders this year. And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.

MECP2 Duplication Syndrome Family Talk

24 May 2010 – A new discussion group has been started on Facebook for family members of individuals with MECP2 Duplication Syndrome. The development of the group followed some recent discussions by about 20 family members on Facebook. In order to take part in the discussions and have access to the entire site, it is necessary to join the group. Group membership will be limited to family members (this is necessary to limit junkmail posts to the group)  but ALL close family members are welcome. If you are a Facebook user , please consider joining the group. For more information or to join the site, click on this link to Facebook MECP2 Duplication Syndrome Family Talk. For more details on how to join and how to use the new facebook site, see the FamilyTalk page on this site.

My Research Wish List

Dear Researchers,

I know that a lot of people are hoping for cure for MECP2 Duplication Syndrome and perhaps a “Cure” for Rett syndrome at the same time. I am not going to claim that I wouldn’t welcome this, it sounds really great, but I have to say that I think it also sounds pretty optimistic to think this will happen within my child’s lifetime or in lifetimes of any of the children or adults who currently have MECP2 Duplication Syndrome.

So, I want to say that I would be very happy to have some research help find some things that will just make living with MECP2 Duplication Syndrome a little easier, just in case the “cure” isn’t at hand. I will start my list with just two things that I think could be achievable”

1. The seizure disorder associated with MECP2 Continue reading