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Sunday, June 12, 2011

Autism Research, Why Boys Are More Effected

Research WORTH Funding.

Hey folks,

As many of you know, when it comes to kids, I'm very passionate. There is something about the pure unadulterated innocence. The purity. The wonder or seeing things for the first time. Children are very special to me. They should be to all.

When I found out I was going to be a Daddy for the first time, I wanted to be sure that all was well. I was Blessed with a BEAUTIFUL bouncing Baby Boy. Joshua came into the world with just a little Medical Condition called Torticollis. This lead to Plagiocephaly. I wrote about this back then. Basically, what this means his that his head tends to lean in one direction. So in his sleep, it constantly lays on one side. Since his skull is still soft and forming, it causes "Flat Head," AKA Plagiocephaly. The Insurance did not pay for this So we had to come up with the money ourselves.

So the cure, or to help, he received a "Star Ban." It's a Helmet to help his head form in a more circular form. Now? Joshua is 5, will be 6 next month, and doing GREAT. He is documented to actually be quiet advanced in many areas. He was trying to crawl at just sixteen days, and he is now showing above average Intelligence. You can tell just by spending a bit of time with him. His understanding is amazing. If you are not careful, you may forget that you are talking to a 6 year old.

But back then, I, this Proud Papa, did not even really want to go to the Store with Laura and our Son. Why? Pride. I was concerned what people would think when they saw the Helmet. I was tired of explaining to people what it was all about. I remember saying more than once, "No! He is not Autistic. He has Plagiocephaly." It was important for me to let them know, he is not Mentally Challenged.

I now FULLY understand just how WRONG that way of thinking is. What if he was? When Elijah was in the Womb, I felt those fears coming back. When he BURST into the World, he was fine. Just as Handsome as Josh, and without the Torticollis. So I was relieved again. But what IF? Would I love either less than the other? Would I love the "Normal One" better than the "Retarded One." Yes I used the word. Why? Because sadly, this is how most people THINK. Forget being PC enough to not SAY it, or use the Word, that IS what they think. So would I? Truthfully? I can not answer that. I would LOVE to say "No of course not. I would love both equally." But WOULD I? Since both my Boys are, at least to this point, "Normal" I have NO IDEA what it would really be like to have an Autistic Child.

So whenever I see a story talking about Children and Research, It always gets my attention. According to WEB MD - New Clues on Genetic Causes of Autism Research Also Sheds Light on Why Boys Are More Affected by Autism Than Girls By Kathleen Doheny WebMD Health News Reviewed by Laura J. Martin, MD
June 8, 2011 -- Genetic mutations not inherited from parents appear to explain some cases of autism, new research suggests. And the mutations may number in the hundreds.

While the new research is a step forward, it is a small puzzle piece. "It could explain up to 2% of all autism cases," says researcher Stephan J. Sanders, MD, a postdoctoral research associate at Yale University's Child Study Center.

Even so, he says the new research -- reported as a trio of studies in the journal Neuron -- provides a solid foundation to a better understanding of the biology of the disorder, eventually leading to better treatments.

In the new research, scientists also found new clues about why boys seem to be more vulnerable to the disorder than girls.

''In combination with some other research studies, this new research shows pretty clearly there is indeed a strong genetic component to autism, and that the individual genes can be identified," say Alan Packer, PhD, associate director for research at the Simons Foundation. It funds autism research and provided the sample populations studied in the new research.

About one in 110 U.S. children has autism or autism spectrum disorder, the neurodevelopmental disorders marked by impaired communication, social interaction problems, repetitive behaviors, and other problems.
1 in 110 is WAY to much. I would love to see Autism wiped out all together. Even if this explains 2 Percent of the cases, it is a step in the right direction.

Genetic Causes of Autism: Trio of Studies

In two of the new studies, researchers analyzed more than 1,000 families who have one autistic child and unaffected siblings. They evaluated their DNA from blood samples. The researchers used a highly sophisticated technique that can detect duplications or deletions of one or more sections of DNA.

These duplications or deletions are called copy number variants or CNVs. If they occur at random, or sporadically, and aren't inherited, they are known as de novo CNVs.

Some CNVs ''are normal parts of being human," Sanders tells WebMD. "It's very difficult to find the ones that matter. We looked for ones that were new in the child.''

They found more new CNVs in autistic children than in unaffected children, which they expected.

They zeroed in on many regions linked with these rare sporadic mutations, Sanders says, confirming previous research on which areas matter. "Basically five regions really stand out now," he says.

These include areas of chromosome 7, 15, 16, 17 and Neurexin 1.

The team estimates ''there are 130-234 CNV regions that could be linked with autism," he says.

The researchers also found that the long arm of chromosome 7, a region associated with Williams syndrome, a genetic disorder in which people are highly social and overly friendly with strangers, may also be associated with autism.

"For a long time it has been known if you have a deletion there, it causes Williams syndrome," Sanders says.

They found the children with autism were more likely to have duplications in this region.

So it appears having a duplication may make you less social -- one of the characteristics of autism.

In a second study, researchers from Cold Spring Harbor Laboratory and other institutions analyzed the same families. They used a similar approach.

They, too, confirmed a contribution from the sporadic mutations. They estimated the number of regions involved even higher, at up to 300.

They also found that girls appear to have a greater resistance to autism from genetic causes than do boys.

''When we looked at affected females, we don't see small mutations, but very large mutations," says Michael Ronemus, PhD, a researcher at Cold Spring Harbor Laboratory. "Girls are more resistant," he says. It appears to take a larger mutation to affect girls with autism compared with boys.

It's long been known that boys are much more likely to get autism than are girls.

In a third report, Ronemus and his colleagues developed a method for analysis of the genetic associations. They used a new method to help identify a network of genes affected by the rare mutations in autism.

"The genes we are finding are typically involved in early brain development, forming connections in the brain," Ronemus says. These genes are related to the development of synapses, the point of connection between two nerve cells, among other tasks, the researchers say.

Genetic Causes of Autism: Implications

While the new research provides more clues to the genetic underpinnings of autism, "the message is not 'go out and get tested,'" says Sanders."We really are not at that stage yet."

The new research provides new information ''but also confirms a lot of things we have already known," says Andy Shih, PhD, vice president of scientific affairs for Autism Speaks, an advocacy and research organization.

"It confirms that rare copy number variants are the main risk factors for many families," he says. However, he says, it also confirms that it's still impossible to explain the majority of cases of autism.

The sporadic mutations appear to play more of a role in families with just one child affected, Shih says. Eventually, the genetic findings could be useful information during genetic counseling in families who have one affected child, he says.

The findings are called a critical first step in the eventual goal of developing targeted treatments.
As with ANY Sickness and or Disease, finding the Sources are always the first step. Find the Source, find a Cure. It is research like THIS that we should be increasing funding for, instead of continuing to fund FAILED research and development. Take money away from Research that is producing NOTHING, and lets work on solving things that are showing positive signs of progress. When it comes to kids, THIS should be a Priority.

WEB MD - New Clues on Genetic Causes of Autism

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