The Genetics of Autism

I'm a female aged 50 - I'm 100% aspergers. Never been diagnosed - wasn't really known in my childhood. Even though my behaviour was quite unusual. I was labelled ' a bad child' which I really wasn't. I didn't understand my childhood behaviour (and adult behaviour ) untill later on in life, after both of my children were diagnosed with it. Then I realised that I wasn't a bad child, just someone with aspergers (high functioning like my boys ) fairly academic and very intelligent and a fairly out going child / adult. One size doesn't fit all - everyone with aspergers suffers in different ways and has their own struggles in life - to appear normal. Both of my sons dealt with it very differently - one coping fairly well, one not coping at all, having lots of mental issues and not able to maintain a normal life (ie school, jobs / difficulty understanding emotions of family and how to build close relationships. Knowledge is power, and I'm glad of any help / advice to understand my behaviour and my children's behaviour regarding aspergers. This has been very useful to me regarding mine and my children's behaviour and genetic links.

An excellent presenter. Very easy to listen to and no long pauses. Knows his subject and projects it well.

I really liked this lecture. However, there is a common misconception that ASD is more common in boys when in reality, a lot of women on the spectrum are highly underdiagnosed because they are better at masking their symptoms than boys.

I would know, since I'm on the spectrum myself and I've had my fair share of not being taken seriously because "you cannot see my symptoms on the outside".

Also, more studies have been done on boys with autism, especially the older studies, and the criteria are more applied to boys. As a result many women get under- or misdiagnosed, since the symptoms generally can be expressed differently in girls and boys.

So this should be taken into account, even if a few of all the ASDgenes might be more common in boys!

We don't need a cure for Autism.. we need more understanding from thee diversity of the Human race and change the focus of society about Autism.

Excellent lecture, clearly presented, excellent flow. I’m sure you’ve heard this many times. What a great bunch of research people have been doing for years in years in years. Amazing

Great lecture. Lots of interesting and not to easy to find information being conveyed by a very competent presenter.

loads of great information

I hate when familial distributions get conflated with genetics...after all families tend to share an environment so there may be environmental factors at play.

I watched this video a couple of years ago, and was blown away by the 12-layered model of information flow in organisms starting around 43:00. The next bit about distinguishing cause, confounders, consequence and coincidence was also helpful. Coming back to watch this again, I understand a lot more than I what got the first time. This research program is quite deep, and has implications for a broad range of scientific questions. The question that intrigues me at the moment is how language, and specifically lexical semantic processes, evolve in hominins, and how these processes can be accurately modeled and simulated. This seems some distance away from autism, but I think the insights from this research could be important.

But you’re only getting part of the picture if you neglect the fact that two genomes were combined, roughly 40,000 years ago.

In other words… what, no mention of the Neanderthal genome?

watching this and he literally named both my childhood special interests hahahaha

Interesting place for diagnostic threshold .... where are sigma lines?

I am impressed and that is hard to do. T.Y.

Is it possible that the true rate of autism (as well as other neurological malfunctions like bipolar disorders) has been increasing and doing so because nature (or culture, really) has been selecting FOR genes whose primary purpose is increasingly desirable yet are also implicated in triggering autistic symptoms? Perhaps say, the mental demands of a high tech economy demanding a greater percentage of the population have strong abstract conceptual skills or executive function? Or perhaps genes responsible for neurological function are selecting differently due to severe environmental change such as how diet changes and proliferation of antibiotics have wrought havoc on our microbiomes? Or even something as nonevident as the world becoming so wired electrically and sonically (radio waves) that neural function is having to adapt to the altered field strengths our ancestors never confronted; some animals species more dependent on electrical senses certainly have been affected—electromagnetic or subsonic pollution obscuring in similar fashion to how light pollution has hidden most of the stars in the night sky compared even to when I was a kid, much less circa 1800?

The rest of my comment is merely for additional illustration from my own family.
I have diagnoses for bipolar type 2 and ADHD (inattentive type) plus lie on the autism spectrum somewhere near Asperger's (self-diagnosed in late 40s after much research), so I have thought and wondered a great deal on the subject of genetic and epigenetic origins of these conditions. My father was diagnosed in the late 1970s with schizophrenia but died to suicide in 1979 and thus has not been around for reevaluation or pharmaceuticals. After interviewing many relatives to augment my own experience with him, I feel he probably would be diagnosed today nearly identically to me save as BPD Type 1 because of his schizoaffective symptoms were episodic and typically accompanied by other "up" symptoms of mania, quite evident since he was normally a pretty quiet, reserved person. I have two living cousins (among 32 of us) who also independently self-diagnosed with Asperger's, and a third that retrospectively fit the more classic model but unfortunately died in a gun accident when I was 8 and he was 7. I've never met all of my cousins, so I can't provide first-hand observation data about everyone. We cousins also have high incidences of anxiety and depression, debilitating migraines, and bowel conditions, some of us on SSDI for our troubles. My dad's maternal grandfather ended up in prison due to the problems he created for himself under severe depression, so the genes go back. Lastly, we're not well in-bred like others with ancestors who came through Appalachia and homesteaded west of the Mississippi, but we didn't entirely miss out.

I hate the autistic legal; all it's done is given people and organizations a reason to abuse or neglect me. Even just straight cast me aside. Eventually, everyone has given up on me.

The findings of this research are extremely interesting, but they don't apply to the entire autistic population. Explicitly singling out a subgroup of autism resulting from "de novo" mutations completely disconnects it from those of us who experience it as a hereditary "condition" for lack of a better term.

To use his comparison, down syndrome is seen as an extremely rare condition resulting from an extra copy of chromosome 21, and it is not seen as hereditary due to its rarity in that it doesn't depend on the parents having the condition. However, about 75% (probably more) of autistic people largely inherited those traits from one or both parents. While that 10.5% (his statistic) of us who do possess those "de novo" mutations could possibly benefit from these findings (assuming it wouldn't be a massive eugenics project), the rest of us don't benefit in any way. The scope of this research simply excludes our "strain" of autism.

One question I have that I may not be able to have answered is this: Out of these particular children, what "level" were they diagnosed as? If they are predominantly observed as one particular "level," that would be important information to include, regardless of what that specific diagnosis is.

Dangerously close to becoming Eugenics. The are many positive assets in the design of the Autistic brain. Personally, I love my brain.

Let’s be careful we don’t slide into Eugenics here.

I just watched a documentary about identical twins one with autism and one without. If this was all genetic how would that be possible.

According to present-day terminology: Gregor Mendel was a monk in Austrian Empire, not a monk in Austria.