Daily Mail: "Experts FINALLY pinpoint cause of autism - landmark discovery paves the way for drug treatments"

Your Excellency is too kind.

Thank you for the info. Really appreciated. x

Google Scholar is the most accessible way of finding original papers. Copy number variants, CNVs, are found in only 5–10% of autistic people.

Thanks, Some helpful information, That's a real disappointment for me though, that its not a bit sooner just to help with certain traits! you are very knowledgeable my liege!  

It is also possible that children of autistic parents are not recognised as such, at least till much later, as their parents see no issue. They may live in a household with few visitors and limited stimulation and see a degree of isolation as normal, copying this from their parents. They sub-consciously adopt their parents coping strategies and tailor their life expectations. They may just be seen as shy or reserved, especially if they mask.

It is not till some stage later that they realise they are finding life harder. 

I think such children would not do as well if born to allistic parents.

I think this only applies to children with more modest impairments, as most would notice profound difficulties.

But I think those with less obvious struggles could have their issues exacerbated in certain environments.

I think that it is down to CNVs causing more disruption to genes and gene expression than SNPs do. If you have a CNV, or more than one, that causes disruption to genes controlling neuronal function or brain development, the results are likely to be deleterious.

If you get a high dose of SNPs that individually produce small variations in gene products or gene expression, the result is likely to be less deleterious overall. Especially as many of these small variations are found throughout the general population and are likely individually to be neutral or beneficial.

Some autism-associated gene variants have also been associated with higher than average academic attainment. Most autistic people who are not profoundly disabled by their autism just get more than the average number of the autistic-associated variants that are knocking around in the general population.

There have been a couple of papers that have hinted at this, but scientists in the genetics of autism field are acutely sensitive to anything that might be misapplied or misinterpreted, so they are very careful not to draw too many overt conclusions. However, if there are two main genetic routes to autism - many small genetic variations that are found in the general population, or a small number of large genetic changes, deletions, duplications and transpositions (loss of, more copies of and movement of chunks of DNA respectively)  - then it suggests to me, speaking personally, that autism is more than one condition, but one that produces some overlapping traits.

Not all CNV's are de novo, some can be inherited, but to nowhere near the scale of the common SNPs.

Thats a interesting point, is there something else going on with de novo CNV's? Is there a particular combination of these that causes a more profound response?

Good answers thanks Martin.

I'm not sure, if I understand your post correctly,  but what I got from your reply is that the "de novo CNVs" are responsible for the profound autism that is not being inherited from parents, but the mild autism is likely to be inherited from patents. Is that then possible, that the profound and mild autism are actually two different conditions? 

Where SNPs are overwhelmingly inherited, a relatively larger proportion of CNVs occur de novo. This is where genetic deletions or duplications happen spontaneously during sperm and/or egg development. Parents without autism traits, or autism in their family history, can therefore have autistic children, and as CNVs are associated with autism with more profound difficulties, these children can be badly affected by their autism.

I have a theory that parents with hereditary autistic traits, or who are autistic themselves, are instinctively able cope with the autism of their children. Whereas the entirely allistic parents whose children are the result of de novo CNVs are not. Plus their children are likely to be more profoundly affected. This might be the behind some of the more extreme examples of 'autism mom syndrome'.

Hi. Community Moderator . Does the NAS respond to Daily Mail articles such as this? I would post a comment to the article, but the comments are currently at 1.7k.

I am wading through the original article. Martin  Thanks for your info. I'd be interested in knowing more about the level of rarity. Do you know of any articles about that or where I should look.

Thanks Martin. 

I had a quick look at the original scientific paper. They are looking at autism-associated copy number variants CNVs, where there are more copies or fewer, of particular genes or lengths of DNA. They are not looking at single nucleotide polymorphisms SNPs, or single nucleotide variants SNVs (these two are similar, except the latter disrupts the amino acid sequence in a protein and the former may not). SNPs, as far as I know, play a larger role in most people's autism than either CNVs or SNVs, which are usually described as 'rare'.

So, this study is only looking at a subset of the genetic variations that have been associated with autism, and one that is relatively rare. CNVs are found in only 5–10% of autistic people - usually those with more profound difficulties.

So, no 'cure' on the horizon, and the research is only relevant to a minority of autistic people.

I think schools focus far to much on what a child can't do rather than what they can, that in itself is disabling and it's effects can be life long. I think '..normal people..' do have empathy, but are often taught that it's unacceptable to show it to everyone and that ony certain groups are worthy of being understood and treated with respect, care and compassion.

Beetroot, That was an appalling thing for a counsellor to say!

So many studies on animals prove not to cross the species boundary well and what works in mice not work at all in humans. Have they considered what we'd be like if we didn't have our autism, how we would cope, would we suddeny understand the NT world or would we be differently confused. I think these scientists are are thinking purely in biological terms and not thinking about the nuture, how we learn culturally appropriate behaviours. Autism isn't an infection or even a condition where a gene is missing or misreads instructions like with sickle cell anaemia, I really don't see how a drug would work, let alone what it's side effects would be?

Beetroot said:

I saw a counsellor a few years ago who said the world would be better without gay people.

That's appalling.

The world would be better without bigots.

Beetroot said:

if it were possible to eliminate autism in the future- not so sure.

I think it depends on how disabling the autism is.

There are people using this forum now who wouldn't have been diagnosed 30 years ago.

Regarding the classic autism of the 20th century maybe asking the people who have it (if they can communicate) would be a way forward?

Thanks Lotus, I think that's a considered and positive way to view this emerging theory. I saw a counsellor a few years ago who said the world would be better without gay people. I am gay so I found that hurtful. I think she meant that gayness can cause heartache ? However, it was an ill considered thing to say as gay people are not the problem its how other people respond. Without gay people the world would be poorer, less inclusive, more bigoted. Autism is hard, it can hurt individuals managing it and those we love and live around. But autism also brings drive, intensity and new perspectives. Many of the greatest scientists, musicians, writers and artists may have been and are autistic. Understanding the nature of autism,  better support for autistic people and real choices to help manage autism its associated conditions and distress would be progress but if it were possible to eliminate autism in the future- not so sure.

Thanks for highlighting those two points. It’s a more measured account than the melodramatic Mail headlines would suggest.

Thanks Iain, that's sort  of what I was thinking but I couldn't articulate it as well as you did.

The Daily Mail comment section does make for a great laugh at times. That's the only reason why I sometimes visit the site.

Iain said:

so it is conceivable that the government / big corporations would selectively breed (or modify) to obtain the standard of scientists they need and keep them contained to give them an environment in which they could provide maxium output

Brave New World.