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MrMark Abstract Data Type


Joined: Jul 04, 2006 Age: 50 Posts: 9109 Location: Tallahassee, FL
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Posted: Fri Jul 11, 2008 4:15 pm Post subject: Middle East families shed light on autism genes: study (AFP) |
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Middle East families shed light on autism genes: study
WASHINGTON (AFP) - Research on large Middle Eastern families has helped scientists pinpoint six new genes implicated in autism, a new study published Thursday said.
The research "strongly supports the emerging idea that autism stems from disruptions in the brain's ability to form new connections in response to experience -- consistent with autism's onset during the first year of life when many of these connections are normally made," a team led by researchers at Children's Hospital Boston and members of the Autism Consortium said.
In traditional Arab societies, cousins commonly wed, making it more likely that rare mutations will be expressed, the team said in study published in Science.
more... _________________
"When I consider thy heavens, the work of thy fingers, the moon and the stars, which thou hast ordained; What is man, that thou art mindful of him?"
- Psalm 8, A Psalm of David |
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ImMelody Velociraptor


Joined: Jun 10, 2008 Posts: 477
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Posted: Fri Jul 11, 2008 5:37 pm Post subject: |
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I was directed to the same story, but on a different website.
The parts that I really feel need to be stated from the other report is:
| Quote: | But the study's bigger message is that autism is too strikingly individual to envision an easy gene test for it. Instead, patients are turning out to have a wide variety, almost a custom set, of gene defects.
"Almost every kid with autism has their own particular cause of it," said Dr. Christopher Walsh, chief of genetics at Children's Hospital Boston, who led the research published in Friday's edition of the journal Science. |
and
| Quote: | In the first year or two of life - when autism symptoms appear - synapses rapidly form and mature, and unnecessary ones are "pruned" back. In other words, a baby's brain is literally being shaped by its first experiences so that it is structurally able to perform learning and other functions of later life.
"This paper points to problems specifically in the way that experience sculpts the developing brain," explained Dr. Thomas Insel, director of the National Institute of Mental Health, which helped fund the work.
Some earlier research had pointed to the same underlying problem, so these newly found genes "join a growing list to suggest that autism is a synaptic disorder," he said. |
It seems to me, that we could probably find the same sort of "off" switches for a lot of other people as well. That this wouldn't categorize us as dysfunctional, but really more ordinary. I wonder what would happen if they studied the gene therapy for your normal high school cheerleader... Or the quarterback on a football team.. Or even your normal run of the mill kid. Would you also find that they have some things that are just turned off continuously? Do they even attempt to quantify what makes these other groups like they are? Or are they just worried about the ones they feel are disordered? |
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monty Phoenix


Joined: Sep 05, 2007 Posts: 1867
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Posted: Fri Jul 11, 2008 5:55 pm Post subject: |
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| ImMelody wrote: | | Do they even attempt to quantify what makes these other groups like they are? Or are they just worried about the ones they feel are disordered? |
I think of like the sickle cell anemia trait (although sickle cell is a much cleaner, more simplistic model). Having one sickle-cell gene makes a person both more resistant to malaria (good in the tropics) but more likely to have blood clotting, liver and kidney disease, etc. Having 2 sickle-cell genes means death.
Translating that to ASDS - having a few switches stuck or thrown at the wrong time can lead to special talents and also a tendency towards anxiety, compulsions, epilepsy, stimming, overloading, etc. Having too many 'abnormal' developmental steps is clearly not "just different" - it a real disadvantage to be profoundly autistic. |
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krex Phoenix


Joined: Jun 21, 2006 Age: 44 Posts: 4973 Location: Village of the Damned
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Posted: Fri Jul 11, 2008 5:58 pm Post subject: |
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Agree with InMelody's post. As my sig suggestions...just because one plain is flying out of formation doesn't mean the formation is on course. Before we do something to make a child "like every one else" we need to figure out what traits we should value and encourage. Given the ABA approach, I don't see creating more dogs that wish to jump through hoops for social approval or to avoid social shunning, as being very good objectives. How about creating more NT's who can enjoy focusing on a task that requires no socialization and an internal reward for doing a good job or learning something ?
I have seen other research that seemed to say that AS children have over abundance of neurons that are so cluttered that they have difficulty connecting "until" the normal process prunes them. That would seem to imply that most of what the therapies are given credit for accomplishing, would have occurred with out intervention in many of us. To know this for sure...they need to spend more time researching adult AS . _________________ Just because one plane is flying out of formation, doesnt mean the formation is on course....R.D.Lang
Visit my crafts store
http://www.etsy.com/shop.php?user_id=5412685 |
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monty Phoenix


Joined: Sep 05, 2007 Posts: 1867
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Posted: Fri Jul 11, 2008 6:09 pm Post subject: |
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| In another thread, I cited a research article that claims that valproic acid (a pharmaceutical) can cause ASDs if the mother takes it in the first trimester of pregnancy. If ASDs are merely another way of being (no better, no worse, just different), does the system have any responsibility to discourage doctors from prescribing valproic acid to pregnant women? Is an act that increases the number of children born with autism morally neutral?? |
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n4mwd Phoenix


Joined: Jun 08, 2008 Posts: 567 Location: Palm Beach, FL
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Posted: Fri Jul 11, 2008 6:27 pm Post subject: |
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| monty wrote: | | In another thread, I cited a research article that claims that valproic acid (a pharmaceutical) can cause ASDs if the mother takes it in the first trimester of pregnancy. If ASDs are merely another way of being, does the system have any responsibility to discourage doctor from prescribing valproic acid to pregnant women, or to women of child bearing age who might become pregnant? Is an act that increases the number of children born with autistm morally neutral?? |
Here is what my nursing drug book says about it:
| Quote: | Depakote (valproic acid derivative) is an anticonvulsant also used to treat migraine headaches. It is a pregnancy class D drug - definite evidence of teratogenic effects on a fetus.
Use during pregnancy is linked to developmental defects, low IQ, birth defects, congenital anomalies, and hepatic dysfunction in the baby. Use with extreme caution. |
Very interesting. Still, it doesn't say it causes autism, but that's pretty close isn't it. |
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monty Phoenix


Joined: Sep 05, 2007 Posts: 1867
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Posted: Fri Jul 11, 2008 6:29 pm Post subject: |
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| Quote: | Proc Natl Acad Sci U S A. 2007 Aug 14;104(33):13501-6. Epub 2007 Aug 3.
Elevated NMDA receptor levels and enhanced postsynaptic long-term potentiation induced by prenatal exposure to valproic acid.
Rinaldi T, Kulangara K, Antoniello K, Markram H.
Laboratory of Neural Microcircuits, Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne, CH 1015 Lausanne, Switzerland.
Valproic acid (VPA) is a powerful teratogen causing birth defects in humans, including autism spectrum disorder (ASD), if exposure occurs during the first trimester of embryogenesis. Learning and memory alterations are common symptoms of ASD, but underlying molecular and synaptic alterations remain unknown. We therefore studied plasticity-related mechanisms in the neocortex of 2-week-old rats prenatally exposed to VPA and tested for changes in glutamate-mediated transmission and plasticity in the neocortex. We found a selective overexpression of NR2A and NR2B subunits of NMDA receptors, as well as the commonly linked kinase calcium/calmodulin-dependent protein kinase II. Synaptic plasticity experiments between pairs of pyramidal neurons revealed an augmented postsynaptic form of long-term potentiation. These results indicate that VPA significantly enhances NMDA receptor-mediated transmission and causes increased plasticity in the neocortex. Enhanced plasticity introduces a surprising perspective to the potential molecular and synaptic mechanisms involved in children prenatally exposed to VPA. |
| Quote: | Cereb Cortex. 2008 Apr;18(4):763-70. Epub 2007 Jul 17.Click here to read Links
Hyperconnectivity of local neocortical microcircuitry induced by prenatal exposure to valproic acid.
Rinaldi T, Silberberg G, Markram H.
Laboratory of Neural Microcircuitry, Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne, Lausanne 1015, Switzerland.
Exposure to valproic acid (VPA) during embryogenesis can cause several teratogenic effects, including developmental delays and in particular autism in humans if exposure occurs during the third week of gestation. We examined the postnatal effects of embryonic exposure to VPA on microcircuit properties of juvenile rat neocortex using in vitro electrophysiology. We found that a single prenatal injection of VPA on embryonic day 11.5 causes a significant enhancement of the local recurrent connectivity formed by neocortical pyramidal neurons. The study of the biophysical properties of these connections revealed weaker excitatory synaptic responses. A marked decrease of the intrinsic excitability of pyramidal neurons was also observed. Furthermore, we demonstrate a diminished number of putative synaptic contacts in connection between layer 5 pyramidal neurons. Local hyperconnectivity may render cortical modules more sensitive to stimulation and once activated, more autonomous, isolated, and more difficult to command. This could underlie some of the core symptoms observed in humans prenatally exposed to valproic acid.. |
Let's assume (for discussion's sake) that the nursing book contains information which is generally agreed upon by the medical community, but cannot include all facts which may be true, but which have not been completely studied and agreed upon. Let us further assume that valproic acid, or some other medicine or environmental chemical can indeed increase the number of children born with autism.
What are the moral implications of such a situation?? |
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hurricaneseye Yellow-bellied Woodpecker


Joined: Jul 10, 2008 Posts: 56 Location: Texas
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Posted: Fri Jul 11, 2008 8:19 pm Post subject: |
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Well, if you view ASDs as a difference, not an illness, then I would think it would be morally neutral to prescribe drugs that could make a devolping baby autistic. Because if ASDs are just a different way of being, then what would be the problem with having one? You could use therapy to help the bad points and emphasize the good points. _________________ -John
If you can, please visit my poetry page at http://www.poemhunter.com/john-parsons/. |
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ImMelody Velociraptor


Joined: Jun 10, 2008 Posts: 477
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Posted: Fri Jul 11, 2008 8:27 pm Post subject: |
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| n4mwd wrote: | | Quote: | Depakote (valproic acid derivative) is an anticonvulsant also used to treat migraine headaches. It is a pregnancy class D drug - definite evidence of teratogenic effects on a fetus.
Use during pregnancy is linked to developmental defects, low IQ, birth defects, congenital anomalies, and hepatic dysfunction in the baby. Use with extreme caution. |
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With that alone, I would not feel that giving Valproic acid would be a good thing, whether or not it would be used to have a child with autism. I don't think I'd risk having a child birth defect or congenital anomaly, just to have a child with autism. Now, if there were something to have just a child with autism with no physical complications, then I'd say it would be morally neutral.  |
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monty Phoenix


Joined: Sep 05, 2007 Posts: 1867
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Posted: Sat Jul 12, 2008 2:40 pm Post subject: |
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| ImMelody wrote: | Now, if there were something to have just a child with autism with no physical complications, then I'd say it would be morally neutral.  |
But can we increase the autism rate without increasing the rate of anxiety disorders, obsessive-compulsive disorder, depression, and other diseases that co-occur with ASDs?? I don't think so. The changes in the wiring with autism make people more likely to have these conditions. |
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n4mwd Phoenix


Joined: Jun 08, 2008 Posts: 567 Location: Palm Beach, FL
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Posted: Sat Jul 12, 2008 2:51 pm Post subject: |
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Whether it causes autism or not, it should not be given to pregnant mothers or lactating mothers. There are other drugs that work similarly that can be given.
Still, there does not seem to be any evidence suggesting the drug has a 100% teratogenic effect. Category D says that it can be given to pregnant mothers if the benefit outweighs the risk. For example, when all other safe drugs have been tried and don't work. Sometimes, when the mother starts having seizures, she is going to lose the baby anyway so it might be necessary to risk it.
Nevertheless, this is all very interesting. I doubt there is a 1 to 1 correlation between its use on pregnant mothers and autism. If there were, it would be a category X drug. Maybe hat is happening is that there is an autistic gene that we all have that can be turned on by this drug. But other things can turn it on also. Maybe mercury. But once its turned on, how do you turn it off. |
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ImMelody Velociraptor


Joined: Jun 10, 2008 Posts: 477
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Posted: Sat Jul 12, 2008 3:19 pm Post subject: |
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| monty wrote: | | ImMelody wrote: | Now, if there were something to have just a child with autism with no physical complications, then I'd say it would be morally neutral.  |
But can we increase the autism rate without increasing the rate of anxiety disorders, obsessive-compulsive disorder, depression, and other diseases that co-occur with ASDs?? I don't think so. The changes in the wiring with autism make people more likely to have these conditions. |
I don't think you can necessarily say the cause of the other disorders are from the wiring of the autism brain. I think all of those conditions are just as likely to happen because of environmental and social triggers. I wouldn't be so anxious around other people if they didn't treat me differently for not being social. I would venture to guess that the majority of the people with depression and ASD aren't depressed because of their altered wiring, but because they have been so ingrained that they HAVE to fit in and the perfectionists in us mean that if we're not we're "wrong."
When there are social pressures put on us, then we most likely are going to have psychological problems trying to please everyone else. Not to mention, even without ASD, there are thousands of people with those other disorders you are talking about. ASD is not going to change that. |
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