MOSAIC MOMENTS

So, yesterday I was too tuckered out to really read over the research to explain more and today just isn’t a whole lot better!

I did get the lawn mower blade that Tim broke and thankfully it fit the lawn mower. (that was questionable) But, apparently when Tim ran over the “bolder” with the lawn mower that also did some damage on the inside where the blade is and there is some stupid rubber/plastic stuff that lines the inside of the mower. That “stuff” was torn up and bent over (no… I didn’t notice it when I was putting on the blade!) and so we had to get rid of this rubber/plastic stuff so the blade would move around.

From the moment we stepped outside to begin this adventure, Garrett’s obnoxious Basset Hound, Buster began to bark.

I hammered…. I pulled…. I used these clipper things that actually are meant for cutting siding and in the process of trying to tear it off with that (because it wasn’t cutting it at all) my hand slipped and I hit the blade with the side of my hand! Thankfully, it wasn’t the sharp part, but I busted a blood vessel the size of Dallas and felt it through my toe nails and out my ears! 

I looked up from the mower and the little boy next door (the culprit for the rocks on my lawn in the first place) was staring at me licking an ice cream. I took a deep breath, then another…. turned around and yelled at Buster for the thousandth time to shut up… and went back to work. 

It still didn’t cut. I sent Tim in to get Garrett (who was happily tapping on his new “practice drum pad” that he bought today from his band director for $24.99 with his own money. It is a good thing I didn’t spend my money on this! I would have sent it back! 

This is basically what it looks like

 Yeah… pretty silly!

So, at this point I am beyond reasonable thinking and couldn’t take the dog barking or my hand throbbing, so I told Tim and Garrett to use the pocket knife and cut the dang rubber/plastic “stuff” off! 

Garrett took about 30 seconds and said he couldn’t do it. He went inside to go back to drumming.

Tim just sat there.

The boy kept licking his ice cream.

The dog kept barking.

My hand kept throbbing!

I took the knife and began to saw. It was working! I gave it to Tim and he was not trying near hard enough and the dog kept barking! 

I was losing any bit of sanity I had left!

I sent Tim in to fetch his brother AGAIN and finally between the three of us we got the stupid rubber/plastic “stuff” off the mower so Tim could begin cutting the grass and Garrett could finish. 

Tim started mowing.

I went in.

Garrett was drumming.

Not only was my hand throbbing, but now my head was too!

The dog kept barking!

I sat down at my computer and posted an ad on Craigslist. 

It is either me or the dog and I was here first!

I just know that other presidents of major organizations do not go through these kinds of days! Surely that presidency title earns them a little respect among their children, neighbors and dogs! 

It has been a long, yet productive day.

I ordered a lawn mower blade because Tim was mowing grass last week and ran over a huge rock and bent the blade like crazy. (I blame this entirely on the Y chromosome) I know that most who read this and live in the north of the US or somewhere else that is full of snow right now is checking the date of this post and wondering when I wrote it because most do not mow their grass in April. However, in Texas this will be our 4th grass mow for the season and today it was 95 degrees in the shade!

I got Garrett’s band director to agree to let him switch from trombone to percussion. Rock Band has taken over his life and he plays his Rock Band drums every moment he is inside (which the past 2 days has been a lot since it has been so hot) 

Then, I handled a pesky bill that was counted late even though it wasn’t late. They told me not to worry about it, so I wont. 

So, today I actually took care of a few things that had to do with my personal life which rarely happens with conference planning and helping IMDSA run smoothly. Which I still did in the midst of these other things and hopefully by tomorrow I will have grass mowed, house cleaned, laundry washed and trampoline bought for Garrett’s Birthday party this Saturday. (Birthday is Monday April 27th… My baby is turning 13!)

So… no research info tonight… I am sorry and hopefully tomorrow I can pick back up on it again. It is a lot to read and a lot to translate and my brain is currently “stuffed with fluff” so maybe tomorrow will be a more thoughtful day.

As I continue explaining this research conducted by VCU/MCV, I hope that if you have a question or even if you find this interesting, you will leave a comment, so I know that I am not confusing anyone.

A lot of people have a hard time understanding that with mosaic Down syndrome, the person can have a completely different percentage in the blood compared to the cells in the skin. For Tim, he has about 14% in his blood and 21% in his skin. What this means is those percentages have an extra chromosome 21 and the remaining cells do not. 

As I stated in previous articles, we have found that the higher the percentage in the blood, the more likelihood a heart defect would be present at birth and the lower the percentage of cells in the skin indicates a probability of a higher IQ.

However a person can have a completely different percentage in the skin and the blood. There are also some cases, although rare, some people can have the affected cells in one area (skin or blood) and not the other. 

To see the graph that shows the variation of percentages in the blood and skin cells , please click here it is on page 5 and you should be brought directly to that graph. (sorry, I could not put the graph on here to show you.)

In the research study conducted by VCU/MCV that we just recently posted on International Mosaic Down Syndrome Association’s website, a very interesting finding occurred. When comparing those with mosaic Down syndrome and Down syndrome researchers found that individuals with mosaic Down syndrome had a more frequent occurrence of congenital heart defects compared to those with complete Trisomy 21 Down syndrome.  Additionally, the found that individuals with mosaic Down syndrome had some specific heart defects that are not commonly found in those with complete Trisomy 21 Down syndrome.

As they continued to research this, they found that those with a higher percentage of Trisomy 21 cells in their blood had an increased risk of congenital heart defects compared to those who have lower percentages in their blood. 

I am sure hearing this for the very young parent or perhaps a parent who is prenatally diagnosed, at this point you are about to freak out completely! 

Take a deep breath……

First of all, I have found that there is a common misconception about these heart defects. Congenital means they are born with it.  You can not develop a congenital heart defect. Either it is there or it isn’t. 

For those who know their baby does have a congenital heart defect…. I know this is scary to think about. Heart problems are a huge thing! Our heart is very important! However, the majority of these heart defects that occur in children with Down syndrome and mosaic Down syndrome either ‘fix’ themselves as the child grows the hole closes or the problem disappears.

Then, there are others who do require surgery.  But now, because of the extreme advances in medicine, heart surgery is not near the issue it used to be. Most children are up and running around way before the doctor thinks they should be and they rarely experience any complications after the surgery. (depending on what it is)

This is the chart included in this study to demonstrate the heart defects found in those with mosaic Down syndrome compared to those with Trisomy 21 Down syndrome. 

 a Number of people having heart defect (number surgically corrected).
b Several subjects had more than one heart defect. Thus, the total number of specific defects is greater than the total number of individuals having a congenital heart defect.

I hope this helps you to understand this some. If you have questions feel free to leave a comment.

In the newly released mosaic Down syndrome research conducted by VCU/MCV, their main focus was to discover if the percentages of affected cells in a person made a difference in health, development and IQ. 

What do the percentages really mean?  This has always been the biggest question parents seem to have. 

This research has answered some of these questions for us.

It was found that there was a significant connection to the percentage of skin cells (taken by a cheek swab or buccal sample) and IQ levels. After studying the group and looking at these cells, it was determined that the lower the percentage found in the skin meant a higher IQ level. 

This is good information to know and will help families to better understand what those mosaic Down syndrome percentages mean for their child. However, it is important to remember that IQ levels are not 100% accurate and although individuals with mosaic Down syndrome often have a higher IQ when comparing them to IQ levels in Down syndrome, this does not mean that ALL individuals with mosaic Down syndrome will automattically have higher IQ’s nor does it mean they are “better off” compared to those with complete Trisomy 21.

Here is an abstract of this part of the study.

Correlations Between Percentage of Cells With Trisomy 21 and Tissue-Specific Findings
Interestingly, a significant inverse correlation (r= -0.53;P=0.0094) was observed between the percentage of trisomic cells present in the buccal samples and the IQ scores of the mosaic propositi. Although a similar trend was observed between the IQ values and percentage of trisomic cells in the blood samples, this correlation was not significant (P=0.1998).

I know that you all are enjoying this research information that I am explaining. And, you are looking forward to me getting to the good stuff and get past all the technical stuff. And I promise that I will do that! However… It will have to be tomorrow.

Believe it or not, I actually have a life outside of the computer (sometimes) and unfortunately, my “other life” is making me wake up at 4am tomorrow morning! My youngest son, Garrett, has a field trip with his school band tomorrow and the bus leaves at 5am. So…. I need to go to sleep so when I am driving to the school at 4:30 in the morning my eyes are at least half way open. 

Please be sure to come back tomorrow when I begin explaining some of the really intersting findings the researchers at VCU/MCV found concerning the percentages and how this affects the health and development of those with mosaic Down syndrome.

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The Introduction of the mosaic Down syndrome research conducted by VCU/MCV is pretty self-explanatory. However, it is a lot of words and sometimes too many words can be overwhelming. So, I will break this down in a more simpler form so everyone can understand it.

Down syndrome is the most common “birth defect” (chromosomal abnormality) with 1 in every 800 live births. For those with “complete” trisomy 21 where every single cell has the extra copy of the 21st chromosome this is the most common form of Down syndrome and affects 90-95% of individuals with Down syndrome. 2-4% have translocation Down syndrome where a piece of the chromosome breaks off and attaches itself to another chromosome and another 2-4% have mosaic Down syndrome where a percentage of cells have the extra 21st chromosome and the remaining cells are unaffected. To better understand how to read karyotypes you can click here to visit International Mosaic Down Syndrome Association’s website to read our easy to understand explanation of that.

In the past, it has been difficult to conduct research on mosaic Down syndrome because of its rarity and the lack of technology needed to really look at these chromosomes. However, when IMDSA began working with these researchers, we brought participants to them either through our conferences or through mailings and were able to get 107 particpants for this study. With the help of NDSC , VCU/MCV was able to find participants with both forms of Down syndrome. The main purpose of this study was to find out if there was a true difference between mosaic Down syndrome and Down syndrome and if percentages in the blood and the skin and other tissue areas mattered.

Tomorrow, I will begin to show you these findings. Some were very eye-opening and others, not so surprising, but still the whole study is extremely educational and without a doubt will help you better understand what mosaic Down syndrome is and what to expect.

To read the actual introduction to this study read below. To see this research in its entirety, click here.

INTRODUCTION
Down syndrome is the most common chromosomal abnormality in live-born individuals, occurring at a frequency of about 1/800 live births [reviewed by Patterson and Costa, 2005]. Most (90–95%) individuals with Down syndrome have trisomy for chromosome 21 [Pangalos et al., 1994]. Two to four percent of individuals with Down syndrome have a trisomic dose of the long arm of chromosome 21 as a result of a structural chromosomal abnormality (translocation or isochromosome) [Pangalos et al., 1994]. Mosaicism is seen in another two to four percent of individuals diagnosed with Down syndrome [Hamerton et al., 1965; Richards, 1969; Mikkelsen, 1977; Hook, 1981]. Mosaicism is a condition in which an individual has two or more genetically distinct cell lines that develop from a single zygote [Nussbam et al., 2001]. In the case of trisomy 21 mosaicism and Down syndrome, affected individuals have both trisomic (47,XX,þ21 or 47,XY,þ21) and euploid (46,XX or 46,XY) cell lines. The primary goal of this study was to determine if there are correlations between the phenotypic traits and the proportion of trisomic cells present in individuals having mosaicism. An investigation involving individuals with trisomy 21 mosaicism can further our understanding of the mechanisms underlying the phenotype of Down syndrome since individuals with trisomy 21 mosaicism show a broad spectrum of clinical findings, ranging from traits typically seen in ‘‘complete’’ trisomy 21 (people having trisomy 21 in every cell) to that of a near normal phenotype [Finley et al., 1966; Shipe et al., 1968; Johnson and Abelson, 1969; Fishler and Koch, 1991; Bhatt et al., 1995].

Our knowledge of factors influencing the clinical outcome in individuals with MDS has been limited due to the relatively small number of cases of this rare condition that are available for study, with most investigators presenting either single case reports or findings from a small number of patients [reviewed by Papavassiliou, 2007]. These previously reported investigations were also accomplished prior to the advent of fluorescent in situ hybridization (FISH) techniques, and were thus limited to the study of metaphase chromosomes following in vitro culturing, the latter of which could potentially skew the levels of trisomy detected. Possible factors contributing to the broad spectrum of traits observed in persons with trisomy 21 mosaicism include (but are not limited to) variation in the proportion of trisomic cells present: (1) between individuals; and (2) from tissue to tissue within and/or between individuals. In this study of persons having trisomy 21 mosaicism, we quantified and compared the percentage of trisomic cells present in nuclei from both lymphocytes (cultured and uncultured) and buccal mucosa cells (uncultured). Thus, the level of trisomy was not only assessed in different tissues, but also from cells with and without the effect of in vitro culturing. The phenotypic profiles of the study subjects were also analyzed, using a latent class analysis (LCA), to determine if subgroups could be identified based on the patients’ phenotype, and if these distinct groups could be distinguished from one another based on their ratio of euploid to trisomic cells. The specific aims of this study were to test the following hypotheses: (1) The proportion of trisomic cells present in different tissues (blood and buccal mucosa) influences the phenotypic outcome associated with mosaicism for trisomy 21 in Down syndrome; and (2) Trisomic levels  in buccal mucosa cells are more closely correlated with phenotypic findings of ectodermal origin, while trisomic levels in lymphocytes are more strongly correlated with findings of mesodermal origin.

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Yesterday I explained that the researchers at VCU/MCV just released new information on their research for mosaic Down syndrome. Although this information can be extremely fascinating, it is often difficult to understand all the big research wording. So, for the next few days I will be explaining this and along the way, if you have any questions, please leave a comment and ask! I will be happy to explain things further.

This research begins with what the goal of the research was.

The Phenotype of Persons Having Mosaicism for Trisomy 21/Down Syndrome Reflects the Percentage of Trisomic Cells Present in Different Tissues
Paulie Papavassiliou,1 Timothy P. York,1,4 Nurcan Gursoy,1,2 Gloria Hill,1,3 Lauren Vanner Nicely,1 Usha Sundaram,1 Allison McClain,1 Steven H. Aggen,4 Lindon Eaves,1,4 Brien Riley,1,4 and Colleen Jackson-Cook1,5*
1Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia
2Department of Neurology, State University of New York at Stony Brook, Stony Brook, New York
3Virginia Department of Forensic Science, Norfolk, Virginia
4Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia
5The Department of Pathology, Virginia Commonwealth University, Richmond, Virginia

Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To investigate a potential ‘‘threshold’’ effect due to trisomic imbalance, lymphocyte and buccal mucosa nuclei were scored using FISH. Overall, buccal cells showed a significantly higher frequency of trisomy than lymphocytes (P<0.0001). Using latent class analysis, two phenotypic classes were identified based on the clinical findings of the propositi. Patients from class 1 had significantly fewer traits and a lower percentage of trisomic cells (mean of 37.3% lymphocytes; 34.5% buccal mucosa cells) when compared to those stratified into class 2 (54.0% lymphocytes; 53.4% buccal mucosa cells). Tissue-specific influences were also detected, with buccal mucosa trisomy levels being significantly correlated with IQ (P¼0.0094; both ectodermal derivatives), while congenital heart defects were significantly correlated with lymphocytes (P¼0.0286; both mesodermal embryonic derivatives). In conclusion, allowing for the distinction of two groups, we observed variation in phenotype, associated with the percentage of trisomic cells. We also observed tissue-specific effects on phenotype. The results of this study should enable geneticists and other health care professionals to provide information regarding optimal diagnostic approaches and anticipated clinical outcomes.
2009 Wiley-Liss, Inc.

First, just like in elementary school when you read a new story out of your reading book, you have to have new vocabulary words in order to understand what all these new words mean:

Pathogenesis: This is a fancy word for the development of a condition

Phenotype: This means the physical, medical and developmental characteristics associated with Down syndrome and mosaic Down syndrome.

Lymphocyte: This is a cell that is found in blood and lymph tissues.

Buccal Cells: These are the skin cells that come from the insides of your cheeks. 

FISH: This stands for Fluorescence in situ hybridization. This is a test they do to detect missing or extra chromosomes.

Propositi: This is the person affected by the extra chromosomes

What all this means……

Little is known about the development of the characteristics in individuals with mosaic Down syndrome and Down syndrome. In this study 107 individuals with mosaic Down syndrome participated. The main purpose of this study was to see if there were any differences in health, development or learning when comparing the amount of the percentage of affected cells and to see what these percentages meant for the blood cells and the skin cells. Interestingly, the researchers discovered that there was a higher percentage of affected cells in the skin than in the blood. This research detected that the number of skin cells present did make a difference for IQ levels and the percentage of cells in the blood affected congenital heart defects.When looking at these percentages the researchers found a variation in the characteristics (health, development, and learning). With this new research, doctors should be able to make better diagnosis and give parents more information on what to expect concerning the percentages of affected cells.

This is just the beginning of the research study. The researchers at VCU/MCV found some very interesting things within these percentages, so tomorrow I will continue this explanation to help you understand what the differences are between mosaic Down syndrome and Down syndrome. 

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Last week, we at International Mosaic Down Syndrome Association were given some very valuable information that I know many will find interesting regardless if your child has mosaic Down syndrome or Down syndrome. This information comes to us from the researchers at Virginia Commonwealth University/Medical College of Virginia. (VCU/MCV)

In 1996, the researchers at VCU/MCV gave parents of children with mosaic Down syndrome the first glimpse of what mosaic Down syndrome truly meant for their children with their first publication on their findings in the research study they conducted to find the differences in mosaic Down syndrome compared to Down syndrome. You can find that booklet here.

However, parents still had more questions. Like what do the percentages mean? And compared to Down syndrome: Does mosaic Down syndrome mean a higher IQ? Do people with mosaic Down syndrome have less health problems? Do babies with mosaic Down syndrome develop milestones earlier? Why don’t people with mosaic Down syndrome look like they have Down syndrome?

The team of researchers continued to look to find answers to these questions, and have once again answered many of these questions. There will always be more questions, but this gives parents of children with mosaic Down syndrome and parents of children with Down syndrome more information than we had before. 

You can find this research information on our website by clicking here.

The head of this research study, Dr. Colleen Jackson-Cook will be speaking at IMDSA’s Down Syndrome Research & Awareness Conference in July! If you have never had the opportunity to hear Dr. Jackson-Cook, you will not want to miss this talk! She is the leading expert in the world on mosaic Down syndrome and can explain all their findings in easy to understand terms.

A lot of this information will more than likely be a bit too complicated to understand. So, for the next few days, I will break it down for you and explain this in layman’s terms so that you will better understand what all this means.

Be sure to not miss any of this explanation on this new mosaic Down syndrome research! Enter your email address in the subscribe box at the top right column of this site and you will receive an email update when new posts are written. 

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This weekend I am going to take a much needed break from it all. With Easter this Sunday, and my hubby, Glenn coming home this evening, I am going to be off the computer for the next few days. As a Christian, this is the most important holiday we have. It helps us to remember that Jesus died on the Cross to forgive us of our sins. If you are not a Christian, that is OK. I am not saying you have to be. But since I am I can only talk about what I know!

So, today I thought I would give you a little background on the Easter Bunny, Easter Eggs, Jelly Beans, and activities you can do with your child to help them understand Easter.

According to History.com the Easter bunny first arrived in America in the 1700s with German immigrants who settled in Pennsylvania and transported their tradition of an egg-laying hare called “Osterhase” or “Oschter Haws.” Their children made nests in which this creature could lay its colored eggs. Eventually, the custom spread across the U.S. and the fabled rabbit’s Easter morning deliveries expanded to include chocolate and other types of candy and gifts, while decorated baskets replaced nests. Additionally, children often left out carrots for the bunny in case he got hungry from all his hopping.

Easter egg hunts and egg rolling are two popular egg-related traditions. In the U.S., the White House Easter Egg Roll, a race in which children push decorated, hard-boiled eggs across the White House lawn, is an annual event held the Monday after Easter. The first official White House egg roll occurred in 1878, when Rutherford B. Hayes was president. The event has no religious significance, although some people have considered egg rolling symbolic of the stone blocking Jesus’ tomb being rolled away, leading to his resurrection. 

Eggs have long been associated with Easter as a symbol of new life and Jesus’ resurrection. Another egg-shaped candy, the jelly bean, became associated with Easter in the 1930s (although the jelly bean’s origins reportedly date all the way back to a Biblical-era concoction called a Turkish Delight). According to the National Confectioners Association, over 16 billion jelly beans are made in the U.S. each year for Easter, enough to fill a giant egg measuring 89 feet high and 60 feet wide. For the past decade, the top-selling non-chocolate Easter candy has been the marshmallow Peep, a sugary, pastel-colored confection. Bethlehem, Pennsylvania-based candy manufacturer Just Born (founded by Russian immigrant Sam Born in 1923) began selling Peeps in the 1950s. The original Peeps were handmade, marshmallow-flavored yellow chicks, but other shapes and flavors were later introduced, including chocolate mousse bunnies. 

I found a great site that is full of children’s activities for Easter. This has recipes, color pages, songs and crafts. Click Here for that page.

If you celebrate Easter I hope you have a happy and safe one!