UCLA geneticist Rita Cantor has found an autism gene according to Discover (via American Journal of Human Genetics). Thats pretty big news on various levels.
Firstly, it going to be something of a blow to JB Handley and Generation Rescue who says that autism is *nothing* but mercury poisoning. I look forward to seeing his retraction. It’ll also be a bit of a blow to all those who follow in Handley’s wake like Lujene Clarke, Wendy Fournier et al who’ve staked their entire reputation on autism being environmental in its entirety. Lujene Clarke is on record on this very blog as stating this. In fact, anyone who’s claimed that autism cannot be genetic will today be cutting themselves a large slice of humble pie.
Except they won’t. Someone somewhere will probably ferret out that Rita Cantor’s Mums Milkmans cat once knew a bloke who knew someone who walked past the office of a ‘Big Pharma’ corporation once and that therefore the results are tainted. Everyone knows that everyone who doesn’t believe in the autism/thimerosal hogwash is in the pay of ‘Big Pharma’.
Even if they can’t ferret out a connection they’ll simply not listen. Or care. For these people, particularly those on the Evidence of Harm list, this isn’t about their kids anymore, this is about politics and winning.
Secondly, we have to be very very careful how we use this knowledge and how its applied. These does set the store out on genetic testing for autism. Obviously this would be quite a long way off just yet but its almost a certainty now. These begins to raise certain ethical questions regarding the morality of testing for things like autism or Down’s Syndrome and what happens to those in whom these differences are detected as well as at what stage of life (before or after birth) they are detected.
Left Brain Right Brain 
From the small amount of reading I’ve done on genes and the detection of disease through genetic mapping, it would seem very unlikely that it will be just a matter of narrowing it down to a couple of genes which when switched on will result in autism. Factors are hugely complex, and you do find a lot of pop science articles exaggerating “finds” of condition-causing genes (how many “Gay Gene Found” or “Cancer Gene Found” articles have you read over the years?).
I’m not saying it isn’t big news. I just think that, with regards to your second point, it’ll be a long time, if ever, before they will be able to definitively say whether a child is going to be autisic or not.
You’re absolutely right Pierce – there’s no way it’ll be down to anything but an interaction of several genetic sources I don’t think. Good start though and certainly an improvement on Bad Mothers or Mercury causes autism.
It could be a combination. Maybe this immune system vulnerability is genetic. And then, children with this problem are at more risk when they get a shot containing mercury.
This of course is just an assumption.
I wonder if I can pop in here – I’m kind of new to this kind of thing and have been lurking on the net for a bit.
I have a slightly uncommon perspective on this matter because I am a trained scientist (not in the medical field but can certainly evaluate research) and I have one 13 year old step son who was diagnosed with Aspergers at 6, and one 5 year old son who does not fit an autistic diagnosis code, but has 10 severe sensory integration system dysfunctions and 4 moderetally severe ones. I have the opportunity to watch what I consider “the spectrum in action” – just on it and just off it. It is fascinating.
Both my boys are extremely intelligent, but one is easier to test. Also, just as cancer runs in the family, so does what appears to be Aspergers resulting in 3 generations of male suicide. Smart, quirky, sensitive folks….
I would like to pose an idea that is noddeling around in my head. Brains require food to work. Did you know that they discovered that although Einstien’s brain wasn’t really larger than typical, it had more of the food processing cells? I believe that my kids have super fast “processors” in their brains. These fast processors require extra food to run. The amounts and speed with wich nutrients reach their brains may be more and faster than in a specific “typical” population. This combined with environmental or man-induced toxins might mean that if my child receives too much mercury somehow, he is going to get more of it into his brain before it flushes out of his system. (I have to say that I have been careful about scheduling, but my kids are vacinnated.)
A 3rd piece is also needed. Immune systems. Both my children had birth situations that resulted in diminshed immune systems in their early years. The oldest was very low Apgar and spent a week in the NNICU, the youngest was pumped full of 12 bags of IV penicillin during birth (via me) and suffered from life-threatening asthma and allergies for his 1st 3 years as a result. When the gut immune system is compromised, the wrong proteins and harmful substances are sent to the brain.
I think you need 1 definitely genetic component – a brain that pulls lots of food in quickly, 1 possibly genetic or possibly environmentally influenced component – a compromised immune system, and then on top of this some sort of assult to the brain – whether that is trauma, lack of oxygen, toxins, whatever.
It seems that these components taken individualy in extremes, or bundled together in a group may result in varying degrees of effect – or varying placement on the “spectrum.”
I just wish I knew who/how to talk to about this to get it turned into something more reviewable.
Jackie
Jackie,
I don’t think it’s too uncommon a position to be in to be a professional scientist with a child on the spetrum (I’m another one) – although there only seems to be anecdotal evidence (e.g. Wired’s Silicon Valley story) out there to support this.
I’d love to see some links to any research that supports your theories. I’m not a biologist or biochemist but the whole “food processor cells” (is there such a thing?) seems a bit simplistic.
One point, autistic children are not known for voracious appetites. If all this extra energy is going into the brains, where’s it coming from? If you’d seen my daughter tearing around the playground you couldn’t suggest that her brain’s extra energy requirements were detracting from her body’s needs.
Andrew
This finding backs up a lot of previous metabolic studies into the potentially toxic effects of glutamate (a precursor to GABA).
Glutamate is the main excitatory neurotransmitter in the body. It is also the precursor to the inhibitory neurotransmitter, GABA..Problems occur if the normal process of regulation of glutamate malfunctions and if toxic levels of this excitatory neurotransmitter build up in the synaptic junctions
I have found, with my own children, that removing glutamate from the diet as much as possible, and supplmenting with GABA has had a positive effect on speech and behaviour. I don’t know of double blind studies done in this area, to say whether this is generally could be seen as being part of an effective treatement for either speech delays and/or certain behavioural issues. My own studies show that my kids are better on than off.
Andrew:
I’ll look around and try and find some links – I have to admit that it’s years of memories of reading one thing or another, plus watching my 2 kids, that have lead me down a strange path to this odd conclusion.
I do have one thought though – the metabolism and energy in a specific child’s system would all be referenced to itself, so I don’t think any part of the system would be out of whack and draining energy from other portions. But, I can say that in my severe SID child, the more he is stressed, and the more he is tired, the more he NEEDS to move his body around.
Very true about the amount of food. Our oldest will only eat bread and cheese – very quirky eater, and the youngest simply can’t be bothered to sit still and eat. Interesting point….
Jackie
Jackie – my daughter is also a *very* fussy eater.It got very bad at one stage but with persistance she’s now eating better than she used to.
However, I think the need to move when stressed is more likely to be a sensory alignment issue. Its something that a lot fo adult autistics speak of: the need to stim when the senses are misaligned. These are “Synaesthesia”:http://en.wikipedia.org/wiki/Synaesthesia and possibly “Irlen Syndrome”:http://en.wikipedia.org/wiki/Scotopic_sensitivity_syndrome
Ian: I also came to the conclusion that GABA might help, and tried it early on without much noticable difference. Worth a shot though! Note the link below re: addictive cassein and gluten is also related to how GABA works in the brain. Seems things could be related to whether someone is an under or over methylator, how the different neurochemicals affect behavior outcomes. Some people do well on SSRIs (seratonin reuptake inhibitors) some don’t. Heaven forbid when they tried Ritalin on our autistic boy. Haven’t tried it again with the younger – although he seems kind of opposite, so maybe.
Andrew: Here are some attempts at links that I have found interesting and maybe relevant. There is lots of JUNK and voodo out there. It’s hard for a thinking parent who wants real answers….
http://faculty.washington.edu/chudler/ein.html
http://blog.nerac.com/2005/06/22/the-domino%e2%80%9s-effect/
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143465
Jackie,
Its an interesting theory – certainly something fascinating is happening in ASD people, especially in some of the more ‘gifted’ individuals. I am very early in trying to understand this disease (and yes by background I am also a scientist) but it seems to me that there is probably a whole cascade of things happening. I have certainly read anecdotal evidence that glutamate is implicated, but so it seems are quite a number of other compounds, foods, minerals, vitamins etc etc.
I don’t totally agree Kev that the discovery of this gene will prove or disprove any theory (and I also think that like the diabetes, Parkinson’s, and other genes that have been discovered, it won’t be a single gene that is involved). If you take the example of melanoma, we know that there is a genetic susceptibility to this malignancy, but generally (although not always) it takes a final insult (UV damage) to trigger the cells to transform. It may be the same for Autism – the gene link may just show which children may be more susceptible to the condition, rather than say the trisomy 21 which predicts Downs.
Actually if this is indeed the case, then maybe it resolves the ethical dilemma of screening – supposing that is that we knew what the actual trigger is – it could then be avoided or monitored.
A final thought on this slightly disjointed rambling – the brain is an incredibly complicated organ – assuming a genetic pre-disposition and then some (or several) triggers, there is actually no reason to suppose that the subsequent cascade of events will be the same in all individuals – and maybe that is why I for one am so confused with what does and does not help – because the biological aspect of the condition can manifest in a number of different ways. That does argue for a very empirical approach to how we look to help, and against the chance that we will ever find a solution purely in genomics. It also makes the anecdotal advice the we get from others the more important.
Still for the scientists who like a nice theory that can be proved or disproved easily, it makes life a lot more confusing. Oh well, now to go and lie in a darkened room for a bit…
Take care,
Max
Kevin
Your original post does raise the important ethical point about genetic testing. Fortunately, since autism is not a disease per se, but rather is a collection of symptoms, no scientist is actually going to go looking for an autism gene. There are over a dozen known diseases whose side effects are autistic-like symptoms. There are probably lots of new, as yet unnamed, metabolic disorders, with a genetic basis, that will also be shown to have autistic-like symptoms.
I guess at the ethical level, one has to ask what good can come from genetic testing. With metabolic disorders like PKU, which if left untreated can lead to autistic-like symptoms, there are things one can do — namely remove phenylalanine from the diet.
I guess the big dillema arrises where there is no current treatment. Downs is tested for now prenatally and people already have to make decisions based on these test results. Science might catch up and find a way to repair the genetic mutation and then families would have a different choice – to treat or not.
Metabolic disorders due to one or multiple genetic variations, which lead to autistic-like symptoms, are even further behind Downs. Currently science hasn’t demonstrated, beyond a theoretical level, how some/all these genetic variations interact and lead to the neurological effects we see, let alone provide possible work arounds to patch the mutation(s).
I think it’s valuable to discuss genetic testing, if it leads to improved quality of lives for children. Using genetic testing has helped me understand the metabolic defects within my own children and helped me learn how to patch around these. This has led to good quality of life improvements: sleep; eye contact; communication; hyperactivity.
Every parent has to make their own informed decision about whether they want to know and use such information. I for one see “autism” as such a broad label that I don’t bother with it any more in relation to my children. Rather I look to interventions (both biomedical and behavioural) that will improve their ability to function in socety at large. I have sought out and identified interventions which work for my children – that has been my choice. I respect other parents choice not to intervene if they so wish.
“I don’t totally agree Kev that the discovery of this gene will prove or disprove any theory…”
Just let me clarify that a little bit. the _only_ thing I definitely believe about the causes of autism is that it is not _solely_ mercury. If we accept this story then we have to abandon that idea.
One of the biggest fights I’ve had with groups are those to do with a group called Generation Rescue run by a venture capitalist called JB Handely. He claims that autism is *only* mercury poisoning – that thats what it is now and what its always been and that no other factors come into play.
This, to me, when tied into GR’s very shady ties to Dr Rashid Buttar and the book Evidence of Harm speaks more of conspiracy then any ‘Big Pharma’ noise that the mercury crowd make. Very real harm can be done to autism research across the world if groups like GR and books like EoH are taken seriously in political circles. Quite aside from the moral aspect of labelling autistics as the offshoot of disease or posioning. I don’t know of any parent who wouldn’t intervene in situations that are to the detriment of their children but I do think we have to be very very careful about what is considered to be at their detriment.
‘stimming’ for example is often seen as a negative thing that should be trained or medicated out of an autistic. Speaking to autistics give a much more positive and even essential view on what stimming _actually_ does. We, as parents, also need to be careful we don’t confuse comorbid traits that require interventions with autism itself which the majority of autistic adults identify keenly with.
Kev,
I think your last point is particularly important.
I’m currently reading “Through the eyes of aliens” – on loan from the autism society. I strongly encourage any parent of an ASD child seek it out.
Ok – one more quick response. We are currently in an OT group with our youngest son. There are 5 boys, DS (Severe SID), 1 ASD and 3 AS. We are working on something called “The Alert Program.” Basically, it’s a way to recognize how your body is feeling and then learning some “socially acceptable” tools for regulating your sensory/emotional state. Stimming is critical to the emotional well-being of some of our kids, but swinging an arm in mad circles as if to take off in a crowd of people is not acceptable. Placing your hands crossed on top of your head and pushing down (for deep joint pressure) is….in fact we have learned to carry gum everywhere because our youngest needs deep pressure under stress and chewing gum really helps control things! And the oldest AS boy will do much better if someone then accidentally “touches” him if he’s been given gum in advance. Anyway, I cry inside when I see parents yelling at their children for doing what they need to do to feel OK, but when those things only get the child into more “stress,” we need tools to replace the effect.
Jackie
hello