Posted on 01/09/2008 7:58:35 PM PST by neverdem
Associated Press
A rare genetic variation dramatically raises the risk of developing autism, a large study showed, opening new research targets for better understanding the disorder and for treating it.
Research into the causes of autism has focused on genetic causes because so many families have multiple children with the disorder. Thus far, only about 10 percent of autism cases have a known genetic cause. Boston-area researchers estimate the gene glitch they've identified accounts for another 1 percent of cases.
They found a segment of a chromosome which has genes linked to brain development and various developmental disorders was either missing or duplicated far more often in autistic people. The defect was inherited in some cases, but more often the result of a random genetic accident.
The results from the Autism Consortium study, released online Wednesday by the New England Journal of Medicine, confirm those of smaller studies by U.S. and Canadian research groups in the past year. The consortium verified its findings by checking two other DNA databases.
"They really did nail it," said Dr. Andrew Zimmerman, director of the Kennedy Krieger Institute's Center for Autism & Related Disorders in Baltimore, who was not involved in the research.
He predicted children newly diagnosed with autism or other developmental disorders now will be tested for this defect on chromosome 16 and that studies of many more DNA samples may reveal other autism-related gene variations.
Already, the findings are starting to be used to give some parents long-sought answers to burning questions: What caused autism in their child and how likely is it that any future children also would have autism, long known to run in families?
"We've provided very compelling evidence that this particular small stretch of the genome provides an important clue to the biological roots of autism," said lead researcher Mark J. Daly, an assistant genetics professor at Harvard Medical School and an investigator for the consortium, which includes researchers from 14 Boston-area universities and medical centers.
When the biological pathways involved are figured out, scientists can try to design drugs to target chemicals in the brain to treat autism, said Geraldine Dawson, chief science officer of the advocacy group Autism Speaks.
"I think chromosome 16 is now going to be a hotbed for autism research," said Thomas Lehner, head of the genomic research branch at the National Institute of Mental Health. "It gives us a very important lead."
Another study researcher, Dr. David Miller of Children's Hospital Boston, said the chromosome 16 variations increased the risk of autism a hundredfold. But he said the disorder must be due to a combination of genetic variations since there were cases of people who had the defect but didn't have autism.
Autism, a complex, poorly understood disorder, is characterized by repetitive behaviors and poor social interaction and communication skills. Research has mainly centered on genetic causes, and on whether it could be caused by the mercury-based preservative once used in childhood vaccines, which has been repeatedly discounted.
The number of children diagnosed with autism has risen in recent years to as many as one in 150 American children, but experts are unsure whether its prevalence really is increasing or the trend is due to a broader definition of autism.
For their study, consortium researchers scanned all 46 chromosomes from DNA samples from 1,441 children with autism or related disorders. They also scanned DNA from most of their parents and 2,800 other people, none known to have autism.
The researchers found a 25-gene segment of chromosome 16 was missing in five children with autism; none of their parents had the deletion. That shows that in some cases the genetic glitch is not inherited from the parents, but instead due to a random accident while an egg or sperm is being formed.
Another seven autistic children had a chromosome 16 duplication, but all but one had parents with the same duplication.
The researchers confirmed their findings by looking at DNA databases from Children's Hospital Boston and Iceland. The same defect was found in 1 percent of those with autism or related disorders. It was found in just seven of about 19,000 Iceland samples from people without the disorder.
On the Net: http://www.nejm.org
http://www.autismspeaks.org
http://www.autismconsortium.org
Very inspirational story...
Our daughter, Adam's mom has a very high IQ and at the time her HS math teacher told me she may have been his best math student, ever. We'll Adam's mom was not nearly the math student as Adam.
There's a bit of a heartwarming story about this. Our daughter's HS math teacher was extremely disappointed she did not go to college. He had retired by the time Adam was becoming a math star with his photo and stories occasionally in the paper. Once when Adam was preparing for a big math contest, Mom called the retired HS teacher to see if he would work with Adam to prepare for the contest.
Adam and the retired HS teacher would meet each night and challenge each other working on complicated math problems. When Adam participated in the math contest, he got first in a multi-state contest. It was a testimonial to the retired HS teacher. He finally got what he wanted but he had to wait a generation. Our hats off to this great teacher.
God bless your grandson and your wonderful family.
Bill Gates is also thought to have Asperger’s syndrome.
Joan of Arc may had some serious issues...
My daughter was telling me that she had heard information about the dosage size of the vaccinations given, and that in some if not all cases the dosage is the same no matter what the weight/age of the child.
Have you considered a gluten free diet for your daughter? It seems to help a lot of individuals who have Aspergers’ or who are on the Autism spectrum. It may be worth looking into for your daughter.
The states have an opportunity to experiment because it is in their interest financially. For every autistic child identified, it costs $ 100K to provide Special Education. That is over $ 1M per autistic child form pre K to the age of 22. I like to see states spread the vaccination schedule over a wider period of time. Concentrate the vital vaccines against fatal diseases in the early ages, and spread the rest out over the K-5 grades. While they are doing that, monitor the autism rates being reported. If there is a drop, than there is a correlation between possible interaction of side effects with the autism rate. Unfortunately politicians lobbied by health and drug companies are actually adding more mandatory vaccines to the list and any politician who opposes it are labeled anti children.
Thanks neverdem.
...This theory comes from a new theory on the Gulf War Syndrome that struck our soldiers in the first Iraqi war. Soldiers were developing many symptoms that could not be narrowed down to one particular cause, however some military doctors are wondering if the huge multitudes of vaccines givened to the soldier in one day before deployment can be the cause...
You make some interesting points.
I don't don't know how much you understand this stuff. In 2003, estimates from gene-prediction programs suggested there might be 24,500 or fewer protein-coding genes (1). The Ensembl genome-annotation system estimates them at 23,299.
These protein-coding genes, also called exons, are subject to mutations including single nucleotide polymorphism(SNP), epigenetics, copy number variation, including inversion, deletion, duplication, triplication, etc. They are just learning a lot of this stuff. They used to call the DNA on chromosomes that is between exons, the protein-coding genes, "junk DNA" or introns. They have only relatively recently acknowledged that introns have regulatory functions and are highly conserved, i.e. rarely subject to mutation.
Discovery and Analysis of Evolutionarily Conserved Intronic Splicing Regulatory Elements
“I have a grandson with some problems, as well. He had a traumatic birth (his head got stuck in the birth canal and he swallowed amniotic fluid and developed pneumonia). He’s had problems focusing on instructions given. It’s almost like he’s someplace else and not listening, but when it comes to focusing on a project, especially building, mechanical arts, etc., he is a master”
We are looking at possible Central Processing Disorder (CAPD) with our son for the reasons you just describe.
Give him visual instruction - and he’s got it.
Give him verbal instruction and he’s lost.
Very focused - but has some social problems that has caused some to think about Asperger’s.
However - he is very affectionate and understands the concepts of different emotions - something lacking with kids on the autism spectrum.
“Give him verbal instruction and he’s lost.”
My grandson is getting better with verbal instruction. It has taken a lot of effort and of course, it also depends on the patience level of his teacher. Like your grandson, mine is very affectionate.
One thing that my daughter tried that seems to have been very helpful is using a pediatric chiropractor. I’m not sure how frequent the visits are, but there have been studies that have suggested that spinal alignment may have something to do with these type of difficulties.
His pediatrician had said there was no ADD/ADHD and agreed with my daughter that he should not be medicated and I’m very happy about that. There’s a boy who lives 2 houses down from me who is on meds and although he’s calmed down, he’s too calm - he actually seems drugged out and out of it. I’m sure his mom is having an easier time of it, but I just don’t think I could do that.
Frankly, I think it is society that’s screwed up and not so much the kids.
good luck with your efforts.
I think especially with boys - time and patience is the best medicine.
Many boys get better simply by maturing.
Reaching for a prescription can be tempting in the short term, but may not work any better than allowing the boy to grow and adjust.
But it's a numbers game. If the chance of genetic damage is there, but low, then the overwhelming majority of children would be fine. But even a small increase could mean a large percentage increase in the rate of the disorder.
I don’t know if additives/pesticides play a factor now, however.
Current thinking is turning toward additive or multiplicative effects of multiple agents. A person might be exposed to 5 different agents at below the "1 in a million increase in cancer" or "no obvious effects" level, and old thought was "no effect"...but the overall effect might really be much greater.
And again, this might be a bit of a chance thing--99.9% are fine, but occasionally, even the low-level risk will impact someone.
Disclaimer: I am not a human-health or risk assessment professional.
Thanks so much for all of the postings on Autism and Asperger’s Syndrome. It is very encouraging to see that others are going through the same thing with positive results.
Having one's first child at ages 38 to 45 is one thing that seems strongly correlated with autism (and many other innate disorders) and also is contemporaneous with the rise in autism stats (1970s-80s on).
The vaccinations that the scientifically unlettered tend to blame for this were given to the parents of the autistic kids when they were kids, without any such effect.
d.o.l.
Criminal Number 18F
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