Monthly Archives: April 2012

Results of the Poll on Body Temperature Regulation

A poll on body temperature regulation was taken was taken on this website for one week during April 2012.  Primary caregivers responded in regard to Seventy-nine (79) individuals with MECP2 Duplication Syndrome. Ninety-one (91) responses were recorded since some multiple responses were possible if more than one finding was reported. Chart 1 below indicates the percentages of caregivers who reported Continue reading

Xq28 /MECP2 Duplication and Translocation

This diagram represents a map the X Chromosome.

The specific  colors don’t represent anything except 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

Rett Syndrome Study: Communication & Social Behavior

19 April 2012 A pilot study from Montefiore Medical Center reported in this month’s Pediatric Neurology looks at social and communicative behaviour in girls with Rett Syndrome. Early results suggest that girls with Rett syndrome may have better social and communicative skills than what is often assumed, and that they differ from many other individuals with autism because they show greater interest in social stimuli.

This study should be interesting to families of children and adults with MECP2 duplication syndrome and others interested in the syndrome for a couple of reasons. First, like Rett syndrome, MECP2 duplication syndrome has been grouped in the family of disorders that produce symptoms of autism, and many individuals with MECP2 duplication syndrome have been given an autism diagnosis. Second, many parents of children or adults with MECP2 duplication syndrome report similar findings to those now being documented in Rett syndrome. Parents typically report that they believe their children with MECP2 duplication syndrome understand much more than they can communicate to others and that they are interested in other people. Finally, this is an example of another area  of research that it would be great to see with our boys and girls. So far research into MECP2 duplication syndrome has been largely genetic and medical, and this is badly needed. Nevertheless, our boys and girls also can benefit from social, psychological, and educational research that can help to give them better lives.

US Announces New Administration for Community Living

The United States has announced a significant reorganization of disability and aging administration under Health and Human Services. The new Administration for Community Living with a mission of “enhancing and improving the broad range of supports that individuals with disabilities and seniors may need to live with respect and dignity as full members of their communities.” This new agency combines three former organizational units: the Administration on Aging, the Office on Disability, and the Administration on Developmental Disabilities. Continue reading

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.

Conference Call on Research

Last week there was a conference call that involved Physician and researcher Melissa Ramocki, Monica Coenraads from the Rett Syndrome Research Trust, and about 35 parents of children and adults with MECP2 Duplication Syndrome. The call includes a great summary of some of the current research. In spite of some extra noise in the recording it is well worth listening to. It is expected to be available on this link for another few weeks.

Tight Pants, Heartburn, and Pneumonia

Here are a couple things to think about in preventing pneumonia in individuals with MECP2 duplication syndrome. They may seem strange, but they are relevant. Tight pants, wheelchair seatbelts, or anything else that fits snugly around the abdomen clearly present a risk. Medications used to treat acid reflux can help solve part of the problem but also increase the risk in an other way. So using these medications requires careful consideration of risks and benefits. Let’s consider them one at a time. Continue reading

Developmental Disorders, Arrest & Reversal

Lately we have been hearing a lot about reversal experiments in mice. One might wonder, “if they can reverse Rett syndrome or Fragile X syndrome, or hopefully MECP2 duplication syndrome in mice, why the heck don’t they reverse it in my kid?” Sometimes it seems like mice must have better healthcare than people. Continue reading

Gene Duplication and Ultrametabolizers

The unfortunate deaths of a number of children who were medicated with codeine is increasing interest in gene duplications. As reported in Pediatrics, These children died after receiving what would have been considered safe doses of codeine after minor surgery. Codeine is metabolized into morphine in the human body, and tests showed high  blood levels of morphine that would normally indicate that these children had received much higher doses. Continue reading