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Genetics Study links Autism to timing mechanisms
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Gareth
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Genetics Study links Autism to timing mechanisms
We recently got sent a press release from the university of bangor:
Genetics Study links Autism to timing mechanisms
Although autism has previously been recognised as a genetic disorder, new work has, for the first time, identified two specific interacting genes that appear to be involved- and the results may seem unexpected.
Research by scientists in Wales reported in Molecular Psychiatry (advance online issue 30th Jan 07) has identified that Autistic Disorder is associated with two genes involved in timing and biological clocks: per1 and npas2.
Cross species research shows that these two clock genes regulate timing mechanisms that control such things as sleep cycle, memory and communicative timing, a less familiar concept. The work, identifying a link between autism and these clock genes, was led by Dr. Dawn Wimpory, Lecturer-Practitioner/Consultant Clinical Psychologist for Autism, practising with the NWWales NHS Trust and Bangor University. She collaborated with Bangor University colleagues in both the School of Psychology and the North West Cancer Research Fund Institute (NWCRFI), together with Professor Michael J Owen’s team from Cardiff University’s Department of Psychological Medicine.
Dr. Wimpory’s clinical work and observations of the lack of social/communicative timing in Autistic Disorder was complemented by colleague Brad Nicholas of The NWCRFI suggesting that clock genes may be involved. This idea waited many years to be tested but new information from the human genome project, developments in the field of biological clocks and the construction of autism gene banks has recently allowed the experiment to be carried out.
Autistic Disorder is characterised by three areas of abnormality: impairment in communication (verbal and non-verbal) and reciprocal social interactions together with a markedly restricted repertoire of activities and interests, all in evidence before three years of age. (Autistic Spectrum Disorders or ASDs include milder and more varied related difficulties.) Dr. Wimpory works on the hypothesis that a deficiency in social timing contributes greatly to the difficulties faced by people with Autistic Disorder.
“Timing is quintessential to normal infant development. In Autistic Disorder, malfunction of adaptive timing may lead to a cascade of other developmental problems. In the first few months an unaffected infant can take part in social exchanges, sharing eye contact and babbling in what we’d recognise as ‘natural’ communication patterns. This facility for preverbal communication appears lacking or diminished in Autistic Disorder,” explains Dr. Wimpory.
It is through such preverbal communication that an unaffected infant anticipates and predicts others’ behaviour, progressing to increasingly sophisticated social participation, for example, in teasing exchanges. Mutually enjoyable preverbal teasing games (e.g. ‘peep-bo!’) are timing-dependent. They appear as an early stage in the development of empathy and social pretence. Empathy and pretending are among the life-long difficulties for individuals with Autistic Disorder. These may be developmentally linked to early difficulties in synchronising with the inbuilt rhythms of communication including eye-contact.
The study analysed genetic markers in 11 clock related genes from 110 individuals with Autistic Disorder and each of their parents (avoiding the more varied ASD subjects and those with additional substantial learning/intellectual impairments often included in autism genetic studies). The results showed that markers in two of the genes, npas2 and per1, had significant association with Autistic Disorder. These two genes had already been identified as regulating complex emotional memory, communicative timing and sleep patterns in the mouse and the fruit fly; organisms that are used by scientists to study the role of clock genes. Problems in sleep, memory and timing are all characteristic of Autistic Disorder; each may play an important role in its development.
“Autism is a disorder of complex inheritance where several interacting genes may be involved. This is the first autism study to identify interacting genes, it is also the first to identify genes that regulate behaviour recognised as affected in autism: timing and memory. It adds further evidence for the role of the biological clock in autism”.
The research was funded by the Baily Thomas Charitable Fund with additional support from Autism Cymru; the researchers now intend to replicate their study with a larger sample.


“Lanie, I’m going to print more printers. Lots more printers. One for everyone. That’s worth going to jail for. That’s worth anything.” - Printcrime by Cory Doctrow
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| 03-07-2007 08:30 PM |
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ichtms
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RE: Genetics Study links Autism to timing mechanisms
Interesting to say the least but what does it mean? Is it a slap in the face of the curbies?
Nobody realizes that some people expend tremendous energy merely to be normal.
- Albert Camus
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| 03-07-2007 09:40 PM |
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RichardL
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RE: Genetics Study links Autism to timing mechanisms
I think it means that the mercury/vaccination theory is now dead.
This user is banned, if you come across any old offensive posts from them please report them (Gareth)
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| 03-08-2007 01:37 AM |
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Ivar T
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RE: Genetics Study links Autism to timing mechanisms
"Timing" here seem to have an alot more complicated meaning than the word itself suggests.
Norwegian 1990 ♂ AS
Previously nicknamed erkolos.
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| 03-08-2007 07:06 PM |
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bravesj858
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RE: Genetics Study links Autism to timing mechanisms
article is pretty intersting. also intersting, i've had sleeping problems the past few weeks and my clock is off. but it's intersting to see what genes we share. but a few problems.
"Empathy and pretending are among the life-long difficulties for individuals with Autistic Disorder." i don't have diffculties with empahty, sometimes i see myself as over-empahtic. and pretending wasn't a problem for me. are they assuming that if we don't show these as toddlers we're going to miss them later in life? i would say 10 years ago, i wasn't really emptahic, mostly because i had little friends, but now, i see myself as overacting to certian situations and need to detach sometimes in order not to get too invovled. many have said that i could be good in drama. and i can do a good role-play, but my peers would be unintersted, so i usually do solo role play, and alot of times not using any materals, so it may look like a stare blank look if you don't know me enough.
"Problems in sleep, memory and timing are all characteristic of Autistic Disorder; each may play an important role in its development." memory is a bunch of bunk, my memory is among the best of anyone i know, although it's been mush lately, partly due to me not being in school anymore, and timing is so so, depends on what i'm doing. sleep problems i can see being more preseitent in autistics.
another thing i thought should have been covered: are those genes related to digestive problems, as i heard that autistics have higher risks for digestive problems (i had digestive problems recently, could be acid refulx and had to can bread for a while because of it).
but overall, i think this is good as if taken the right way, it won't be thought as that we were taken over by a monster, but that that's how we were made. (or the curebies would say that we were defective from the start, creating more problems).
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| 03-09-2007 10:31 PM |
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seven
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RE: Genetics Study links Autism to timing mechanisms
id like to mention that these scientists dont study what we are more adept to than NTs are, but what we are "worse at". you have t owonder what "shocking new evidence" they could find if tehy stopped calling us disordered and started calling us people. whetehr this is interesting or not, it seems like it would e obvious to me, i mean of Course the clock gene is off in us, and of course it comes from parents of a child. but what about our otehr traits? we will never be properly evaluated if people are so closed minded to teh posibility that they are not nessisarilly going to be "right" while we are "wrong"
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| 03-19-2007 03:30 PM |
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seven
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RE: Genetics Study links Autism to timing mechanisms
children do nothave empathy. im dead serious. NO children do, it does no matter if your NT or AS.
they are increadly self centered when tehy assume we have no empathy, i too often see myself as over empathic. i think i care more than they do becuase half their caring is total fake, "polite" gestures.
you do not develop empathy until you hit puberty. some people never develop it, but people on the AS are more likley to than NTs i suspect. desh (McDD) is the most empathyc person ive met, he sometimes cant handle ebing around someone whos too upset, becuase it sinks into him too much.
i poretend i dont care, yes, becuase i dont udnerstand how showing termoil at something will help teh situation, its called being collected or mature, not heartless.
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| 03-19-2007 03:35 PM |
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bravesj858
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RE: Genetics Study links Autism to timing mechanisms
children do nothave empathy. im dead serious. NO children do, it does no matter if your NT or AS.
they are increadly self centered when they assume we have no empathy, i too often see myself as over empathic. i think i care more than they do becuase half their caring is total fake, "polite" gestures.
you do not develop empathy until you hit puberty. some people never develop it, but people on the AS are more likley to than NTs i suspect. desh (McDD) is the most empathic person ive met, he sometimes cant handle being around someone whos too upset, becuase it sinks into him too much.
i poretend i dont care, yes, becuase i dont udnerstand how showing termoil at something will help the situation, its called being collected or mature, not heartless.
i guess if you don't let out your emotions or let them show in an nt way, you don't care for anything according to socitey's rules.
alot of times, i usually have the same experession on my face, or it's marginally diffrent so people that don't know me think i don't care about anything or that i have no feelings, but people that know me for a while know i express my feeelings in a diffrent way of sorts (but when i'm crying or very excited, you can see a diffrence).
and also, just saying "im very sorry" doesn't mean much. it's just something people do as equitte alot of the time. so you can't be sure they are empatheic about the situation. i usually keep thoughts to myself alot, and i see myself as caring too much as well, as i mentioned in my last post.
calming down about the situation helps that you don't cloud your judgement in your emotions and make good descions. it doesn't make you heartless, and whoever said that must be stupid.
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| 03-19-2007 07:14 PM |
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Ren Chou
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RE: Genetics Study links Autism to timing mechanisms
It could explain a lot, I often think if I had more time to process there would less of a communication problem. It makes autism a learning style rather than a learning difficulty.
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| 03-23-2007 08:52 PM |
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Sequoyah
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RE: Genetics Study links Autism to timing mechanisms
I guess the metaphor of "hearing a different drummer" might be truer than anyone suspected for us.
I agree with bravesj858 about memory. I can remember just about anything on topics I'm interested in (which includes practically everything we learn in school and the Costa Rican soccer league too (I live there)) just not names of people I talk to less than once a month and what or local geography farther than 5 km away. I've had enough good feedback from being in school drama performances to know it wasn't all just the NT compliment reflex.
I do need about 10 hours of sleep a day. Callista describes some really neat sleep-related abilities on post 58 of the thread "X-Men=Us?" under "autlang and aspergian ideas.
It doesn't seem like any hypothesis so far as I know accounts for food allergies.
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| 03-30-2007 09:46 PM |
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sombient
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RE: Genetics Study links Autism to timing mechanisms
Oh, these cellular and biological clocks play a very special role in the timed production of polyamines and also neuropeptides (opiate peptides). These play a role in emotions and socialization and bonding, in recognition, in activation of the gut, and in the formation of neurotransmitters. The latter are under the control of receptors that react to stress stimulus. And we know that Autistics have low stress load accommodation.
Now, the core biochemical issues in Autism is: glutamate, sulfate amino acids and methylation. Their formation is driven by specific liver and brain biochemical pathways, and are dependent upon key coenzymes (B vitamins) and micronutrients, like magnesium, calcium and selenium, for pathway metabolite formation. Pathway products include compounds are antioxidants, energy sources, regulate homocysteine and folate balance, regulate hydration and ion balance, and liver detoxification pathways, as well as cholesterol and bile acid metabolism in liver.
In short, we have rhyme and reason for understanding autism, its management and with a little stretching of our creative problem solving processes - its prevention en utero (during gestation). Since the issue begins with the formation of gametes, and the effects of environmental factors, like stress and nutritional issues, on the key gene programming of these gametes - long before adult maturation in parents, well before humans reach adulthood, its likely that there are steps that can be taken to reduce the expression of autism as a complex combination of impaired gene products. The second stage of control is during gestation, again in the environmental influence of maternal health status on prenatal and neonatal neurological development. And finally, in both behavioral and dietary / lifestyle interventions in infants and children that also act to reduce the severity of impaired gene expression. The latter most of you are familiar with; the former ideas have been kicked about in various neurodevelopmental and molecular biology journals for several years (although the earliest notions were published more than a decade ago by perceptive individuals).
Clock genes are important, but its their linkage to neurohormones and neurotransmitter chemistry that will be a primary focus, if we are to ask: what is is the practical application of this information.
An aside: recent studies of evolutionary clocks (a third type of clock) of the dynorphin genes suggests that dysfunction of the genes of opiate peptide receptors that are prone to mutation by environmental factors is a relatively recent development, and its has ethnic and racial variability, with an underlying issue of intra-generational programming rates (mentioned above).
Did you not wonder why autism is apparently becoming more prevalent in modern society? Its beyond the issue of "we just finding it because we're looking harder'.
Nope, its an epidemic, and its probably time for us to talk about why its occurring at an accelerated rate in the most recent generations.
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| 04-06-2007 06:29 AM |
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Gareth
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RE: Genetics Study links Autism to timing mechanisms
sombient - I see you have not actually read our aims at all. People like you are the epidemic.


“Lanie, I’m going to print more printers. Lots more printers. One for everyone. That’s worth going to jail for. That’s worth anything.” - Printcrime by Cory Doctrow
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| 04-06-2007 01:57 PM |
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Gareth
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RE: Genetics Study links Autism to timing mechanisms
Furthermore, a more technical criticism of what you posted:
How does a simple nutritional imbalance (missing B vitamins and minerals) lead to massive differences in brain structure? By pathway formation are you referring to dendrites or biochemical pathways? You seem to be suggesting that you need certain nutrients in order to produce antioxidants, energy sources and various other compounds. This is nonsensical as humans tend not to produce most of the antioxidants (Vitamin C comes to mind) and require them from our diet. I also fail to see how you get from glutamate to problems with bile metabolism or what bile has to do with autism (a neurological difference).
How exactly does stress cause the gametes to change in such a way that the offspring suddenly have B vitamin defiencies and bile metabolism problems?


“Lanie, I’m going to print more printers. Lots more printers. One for everyone. That’s worth going to jail for. That’s worth anything.” - Printcrime by Cory Doctrow
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| 04-06-2007 02:04 PM |
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Ryuujin
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RE: Genetics Study links Autism to timing mechanisms
Actually I thought what Sombient was saying pretty intresting and appropriate Gareth, I think you just mis-interpretted by the use of the word "epidemic" and discussion of fixing it, Sombient is a scientist not a social worker, from a medical standpoint it *is* an epidemic, just saying it as it is, and then asking "Is the process reversible" as is good scientific process, deciding the moral implications of that is our buisness, but there shouldn't ever be such a thing as "forbidden knowledge" just because someone might be offended by what we find.
I'm all for science answering the questions then letting the thinkers decide how this knowledge should be applied, just think where we'd be if the guys on the nuclear project had said "Hey guys... this might get used as a weapon. Let's bury the evidence we ever thought about nuclear fission in case someone gets hurt"
If it is down to the timing controls, then I'm as curious as Sombi' to know what has triggered the change, it could tell us a lot (Even if it could be used to find a cure), and why there seems to be an increasing number of us.
People are Monsters; and vice versa
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| 04-10-2007 02:32 AM |
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ichtms
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RE: Genetics Study links Autism to timing mechanisms
Commenting on posts 6 & 7 by seven.
I would say that researchers nearly always only inspect a fragment of a larger population and therefore miss out of the larger picture. Most studies of psychopathy focuses on the criminal psychopath, disregarding the fact that the majority of psychopaths aren't criminals.
The research into what causes Autism is still in its infancy. Let's say that the whole picture consists of thousands of pictures that themselves consists of thousands of pictures and so on... The research has only just started and I think we have only seen the beginning of the first few dozens of pictures...
Why there's an increase at this age in time have multiple reasons. The world has undergone some fundamental changes over the last 200 years. People haven't changed that much. Schools, as we know them, are quite a new invention. They are the new factories or (prison type) environments that step on weakness and celebrate the strong. The ethics of our western society are very like those that where prevalent just a few decades away which ended in WW2. The establishment will never admit that as long as it's good for them, because they have the Power and the Funds to keep them in their positions.
Nobody realizes that some people expend tremendous energy merely to be normal.
- Albert Camus
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| 04-10-2007 03:57 AM |
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