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Autism 's Tangled Genetics Full of Rare and Varied Mutations - Scientific American

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posted on Jun, 9 2011 @ 12:09 AM
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In four studies and an analysis published June 8th scientists have discovered there are hundreds of possible genes involved in the causation of Autism Spectrum Disorder (ASD). They've tracked the genome of about 1,000 families in which one child has ASD,

Scientific American



Large genetic studies have ruled out the idea that the malfunction of a universal gene or set of genes causes autism. And the new papers... revealed that the genetic mutations that are likely responsible for the disorder are exceedingly rare—sometimes almost unique to an individual patient. Even some of the most common point of mutations were found in only about 1 percent of autistic children.

This finding means that the number of genes lurking behind autism spectrum disorder (ASD) is at least "in the hundreds," says Matthew State of Yale University's Program on Neurogenetics and co-author of one of the new studies. "That's a significant change from the '90s when it was [thought to be] five to 15."




Despite the rarity of these genetic code errors, researchers could detect some important patterns in the disparate data. One aberrant gene has already been linked to other social disorders. And by analyzing the role of these genes in neural development, one team of researchers suggests different genetic mutations might often disturb an entire common network.


The studies also found (confirmed) ASD is approximately four times more common in boys than in girls.




posted on Jun, 9 2011 @ 12:14 AM
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A thought of my own, as a Psychologist who has worked with children with Autism Spectrum Disorder, is that cultural, genetic, and environmental aspects could all be combined in the cause. In my opinion the fact that there are now 100s of genes involved points more to a correlation rather than a solely genetic condition.



posted on Jun, 9 2011 @ 12:25 AM
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I'm not willing to go with the idea that genetics are the key to explaining how people think and act.

Genetics help determine the mind-body interface. But that's only part of the story. A person can decide, I suppose, to live his whole existence under the control of his mind-body interface. I know a lot of power-hungry people who would love it if people could be made that predictable!

But for most of us, that idea is just too deterministic. It doesn't open enough doors to enough good answers. It puts others in control of us instead of us in control of ourselves.

There is a fair amount of serious research out there now indicating that we can control our own genetic manifestations to a large degree. And a lot of other things as well, if we train ourselves to improve our skills. For me, that's the way to go. My opinion of those that want to label me with a "genetic" disorder is that they don't have my best interests in mind by a long shot. More likely, they are hoping I can be put under their control and help them profit from their patented "cures." I don't want a world like that.



posted on Jun, 9 2011 @ 01:52 AM
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What gets me is they blame genes as if it's some inherent abnormality that just happens to be there. What about the possibility of environmental factors causing the whole genetic malfunction to begin with. We know there's the possibility of gmo's messing with DNA, and other toxins cause DNA damage. What's the possibility of vaccines causing genetic abnormalities?



posted on Jun, 9 2011 @ 08:20 AM
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reply to post by l_e_cox
 


I agree of course to a certain extent. And that is the problem, the extent of the disorder. Once the DNA's avalanche of errors reaches the tipping point the "will" of the victim becomes overwhelmed and gives in to the associated non-standard urges and complications.

Most of us handle the smaller disruptions such as a small anti-social inclination, but, as with a family member of mine, it is easier for them to go fully with the flow, regardless of how disruptive it is to what we outsiders see as that individual's life.



posted on Jun, 9 2011 @ 08:37 AM
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As the parent of a daughter with Asperger's Syndrome, I wish the scientific community would start by agreeing on exactly what constitutes autism.

It is my understanding that there have been discussions about taking Asperger's Syndrome off of the autism spectrum.

Further, a psychologist we saw seemed to believe there is a distinction between Asperger's Syndrome and High Functioning Autism. A pediatrician indicated they are the same condition with two different names.

When I read about autism research I continually question whether it applies to us.

The world has a along way to go in understanding this condition and given the speed at which it is becoming more prevalent, we had better hurry up.



posted on Jun, 9 2011 @ 08:44 AM
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Originally posted by Reaching
As the parent of a daughter with Asperger's Syndrome, I wish the scientific community would start by agreeing on exactly what constitutes autism.

It is my understanding that there have been discussions about taking Asperger's Syndrome off of the autism spectrum.

Further, a psychologist we saw seemed to believe there is a distinction between Asperger's Syndrome and High Functioning Autism. A pediatrician indicated they are the same condition with two different names.

When I read about autism research I continually question whether it applies to us.

The world has a along way to go in understanding this condition and given the speed at which it is becoming more prevalent, we had better hurry up.


You are right about taking Aspergers off the spectrum. My nephew was given a "high functioning autism" diagnosis recently. The doctor said that a year ago he would have given him a diagnosis of "Aspergers" but because they are going to remove it from the ASD, he was worried that would leave the child without the social programs and other special considerations that the government and school board supply to autistic students.



posted on Jun, 9 2011 @ 08:45 AM
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duplicate post
edit on 9-6-2011 by minettejo because: (no reason given)



posted on Jun, 9 2011 @ 08:54 AM
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Originally posted by kalamatas
What gets me is they blame genes as if it's some inherent abnormality that just happens to be there. What about the possibility of environmental factors causing the whole genetic malfunction to begin with. We know there's the possibility of gmo's messing with DNA, and other toxins cause DNA damage. What's the possibility of vaccines causing genetic abnormalities?

Notice the increase in diagnosis of autism post-ww2...yes, it wasn't really in the good ol' dsm manuals and intimately studied, but what are the estimates of kids born with autism now? Something like 1 in 50 or 1 in 100 or something? And now they are pointing to genetic mutation. How many above ground nuclear tests were people downwind of and how much fallout went into the aquifers and on fields? Not to forget all of the pesticides and industrial waste leaking out among the populace. Superfund sites? I think a study needs to be done of incidence of autism and prebirth environment.



posted on Jun, 9 2011 @ 09:21 AM
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reply to post by Reaching
 


My son also has Asperger's Syndrome and my daughter has been diagnosed with PDD-NOS. She changed after a nasty bout with a ruptured appendix when she was five. She was outgoing, but became extremely introverted. So I think physical trauma can affect the outcome of these kids too.

But my son is highly intelligent. I think that's the norm for these kids. He just can't read facial expressions very well and has a hard time inferring information from any material, written or spoken. He hates slang and text language to the point he told the friends he does have to either use proper English or not to bug him with their stupidity. I had to get him a guide so he could understand all the LOLs and stuff.

I have been thinking though, that we are negatively labeling something, especially in the case of the high functioning autism disorders, that is just evolution playing a part. I say this because while my kids are somewhat socially awkward, they are more loving and empathetic to others than most of the kids I've seen. When they feel for someone, they feel with their whole hearts. Humanity needs that. All of us. Drugging these kids into a stupor isn't the answer and I'm afraid it may be killing what's good about it. They now say that people like Einstein, Motzart and Newton were high functioning autistics because they were able to obsess on one issue to the exclusion of all others (as kids with Asperger's tend to do.)

Famous People with Aspergers

Can you imagine how much worse the world would be if these people's parents just decided to drug them into a stupor?

We sort of forced our kids into social interaction. Sometimes my son tried to "disappear" behind something, but we literally drug him out of his tantrums. He's now a kid the younger ones look up to. He does take something to help ease him into sleep (otherwise he'd literally be up for days at a time), but that's all he takes. My daughter is 19 now and using supplements, journal keeping, exercise and talk therapy to overcome her obstacles.



posted on Jun, 9 2011 @ 08:24 PM
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reply to post by minettejo
 


Thanks for your reply Minettejo. I wish I had known to do the same thing.



posted on Jun, 9 2011 @ 08:28 PM
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reply to post by tncryptogal
 


Hi Tncryptogal,

You mention something interesting. My 12-year-old with Asperger's Syndrome doesn't sleep either. I make her hot chocolate with milk.

I don't believe we should seek to change them either, but I am concerned about how this generation of children with autism will be integrated into society in the next decade.



posted on Jun, 9 2011 @ 08:33 PM
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Originally posted by Thermo Klein
A thought of my own, as a Psychologist who has worked with children with Autism Spectrum Disorder, is that cultural, genetic, and environmental aspects could all be combined in the cause. In my opinion the fact that there are now 100s of genes involved points more to a correlation rather than a solely genetic condition.


Agreed.

I actually think that the fact that 100's of genes are involved, shows more that the term ASD is a bit archaic, and should be done away with in it's entirety. I pretty much feel the same about every labeling in the DSM at this point. They are too broad sweeping, and many carry severe negative connotations. They seem to cause more harm than good. Many times, people stop at the label as an end, and don't try and figure out who the person is as an individual, and WHY EXACTLY they are the way they are.

It should be very easy to see that on the genetic side of things, we're mutating faster right now, than nearly every other moment in our species history.

Many people say I'm on the spectrum. I think that I'm a unique individual like everyone else.


Evolve or decay.


edit on 9-6-2011 by unityemissions because: (no reason given)



posted on Jun, 9 2011 @ 08:53 PM
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IMO a pediatrician isnt qualified to make a diagnosis of anything on the spectrum. My oldest is a "high functioner" with a high IQ. She was diagnosed by a pediatric neurologist after wasting time with pediatricians and psychologists. If you are questioning if your child is actually on the spectrum.. just take them to the correct person for diagnosis. We have worked very closely with her neurologist and she has become outstanding. You can go to a ped and get your diagnosis for "aid"... most times a substandard education from a substandard educator at school in special ed.. or you can work to isolate the childs specific issues and work WITH those problems. We wasted her time and our own working with pediatricians and BASSC at public school.. so Im not being elitist.. Im saying dont make my same mistakes with your own kids


High functioners are just that.. high functioners and some exceed all expectations given the correct methods and materials. Ours did. We knew when she was small that she was not going to be neuro-typical, but wow.. we never expected how far above neuro-typical kids she would be. Her main issue is processing. She does not process information in a typical way... like most Autistic folks. DOnt let the "profound processing" problems diagnosis fool you though.. some can really do the unexpected.. and are the mercy of testing criteria that is geared for using typicals as the yardstick.
WHen we stopped going by these weird guidelines geared to neurotypical accomplishments.. we found she could do incredible things. Now at almost 18 she is totally integrated into "normal" things.. and with typical peers. She is popular and is more than we had been told she would be in the begining... the kid who rocked and screamed and washed her hands until they bled. SHe also has been in college level courses since she was 12 and would blow your mind. She drives, does her own accounting with checkbook and savings, she also has her own little business on the side. She is NOT an average teen.. she is far far above average and has a moral and ethical compass Im greatly proud of. She was my first and I was completely devastated by the initial diagnosis. Now, I feel pretty darned lucky to have an "aspie" or more correctly a high functioning autistic child. DO NOT let these Drs tell you what you should expect with a spectrum diagnosis. She is proof they have no idea what theyre talking about and if we would have stayed on the original course the "experts" handed us.. she would be non or low-functioning. No one knows she has this stupid label of "autism" unless they are told.



posted on Jun, 15 2011 @ 09:38 AM
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reply to post by Reaching
 


Thanks for the reply and for the chocolate idea. I might try that. I think his biological clock might be on a different time zone than mine and that's why he can't sleep. He tries to go to bed by nine-thirty and never gets to sleep until maybe two in the morning. I'm thinking about melatonin supplements to get his clock on schedule.

Also, do any of the parents talking here have children that have night terrors? My daughter's started at two and continued until she was ten. She also had regular nightmares. She learned to lucid dream by ten and the nightmares became less common. My son occasionally sleep walks and has very vivid dreams as well. Is this part of it? I can never get an answer from the neurologist. I figured one of you might shed some light on it.



posted on Jun, 15 2011 @ 04:20 PM
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There's no doubt that Autism and Asperger's are neuropsychological issues with correlation on genomic error, but it is to unclear in the case of the genetics behind this diseases to draw a conclusion about what's the error specifically. In spite of being the most plausible explanation for this conditions, when we are certain that the issue is congenital, there are other causes, because most of the cases the issue isn't congenital, and we may point responsibilities to toxic reactions like heavy metal poisoning, exposure to certain chemical agents like pesticides; we may also point environmental issues, including the in utero period of the individual. Mostly chemical imbalances, immunity defects both of the mother and the fetus, infectious diseases caused by the most diverse pathogens...
The list is wide and probabily the cause will never be completly uncovered because it is relative to each individual, including genomics.

edit on 15-6-2011 by TheLodger because: (no reason given)



posted on Jul, 10 2011 @ 04:39 AM
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reply to post by Reaching
 


the reason people on the autistic spectrum have trouble sleeping is because some parts of the brain just don't turn off very easily. its where a lot of our abilities come from, but it is also a drawback in and of itself.

it still takes me 30 mins to over an hour to fall asleep. it used to be worse, but i've gained some control with time. it used to be that i would (involuntarily) picture shapes and objects/scenery, and it would spin and spin and spin in my .. i couldn't stop it from spinning if it started. incredibly frustrating, but atleast i'm good at science =P



posted on Jul, 10 2011 @ 12:28 PM
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reply to post by Bob Sholtz
 


Just push yourself to the max, both physically, and intellectually every day. The only way I easily get to sleeps by being exhausted.



posted on Jul, 10 2011 @ 05:03 PM
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reply to post by unityemissions
 


true, though motivation is always an issue. i usually resort to melatonin about 30 mins before bed, it helps. i've read that people on the spectrum have less serotonin, which leads to depression (pretty common with ASD) and also affects a person's ability to communicate. i'm thinking of trying an SSRI.



She also had regular nightmares. She learned to lucid dream by ten and the nightmares became less common. My son occasionally sleep walks and has very vivid dreams as well. Is this part of it?


it seems to be. i used to have night terrors when i was little all the way up until i was 15. sleepwalking too. everything seems to tone down with time. i used to be afraid of alot of little things (lots of anxiety too), and i think that fear comes back at night. nightmares are common on the spectrum.



posted on Jul, 10 2011 @ 06:47 PM
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reply to post by Bob Sholtz
 


Both melatonin and ssri's are no good in my particular case. The ssri pretty much made me worse, and the melatonin gave me very weird sleep, and the next day was like a daydream.

I choose alcohol to bump up the serotonin. I can handle an abnormal amount of alcohol without compromising intellectual functions, so a couple or so a day is no biggie.

Hope you find out what works best for you.

Peace.




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