Autism is genetic

[jonesonscam]

The National Autistic Society has just said something pretty significant: Autism is genetic. Not “possibly genetic”. Not “we’re not really sure what causes it”.

After reviewing 83 research papers, the NAS is now stating definitively that autism is genetic. You’re born autistic and you’re autistic for life. Most autistic people are autistic because of genes they inherited from their parents.

I think this matters enormously because for decades, autism has been surrounded by nonsense about vaccines, parenting, mothers doing something wrong, pregnancy, diet and a million other things.

It has left parents blaming themselves, and autistic people being told that something caused them to be autistic that could somehow have been prevented.

There isn't an “autism gene”. Thousands of genes are involved, and genetics is complicated. But the basic message is now remarkably clear: autism isn't something that happened to someone. It's something they were born with.

That matters because when we stop looking for something to blame, we can start looking at what actually matters: understanding autistic people, supporting them properly, and making a society that works for them.

This all feels like a pretty important shift.

Does this mean every single case of autism is genetic? If so, that makes me feel a lot better. For years I've blamed myself for my eldest's autism, thinking it was the drugs they gave me that I didn't even want in labour etc.

Well, what used to be referred to as Asperger's certainly runs in my family - it's just that we didn't have a name for it at one time.

The first family member to have a formal diagnosis was a cousin's son. He's no different from half that side of the family - except that we were simply "quiet", "shy", "set in our ways" or "funny buggers".

Since then, other youngsters in the family have been diagnosed with ADHD.

Many of the youngsters don't have a diagnosis because their parents don't see the point. I visited another cousin a couple of weeks ago. Of her son, she said "Aye, he's just happy working in the family business and then going home to his own house. He's just got the same Asperger's as our Great-Uncle Rab. He manages just fine."

The same cousin commented to me that - while she comes across as being reasonably gregarious - she and I have the same problem with finding eye contact difficult. Her nephew is the lad who was first to have a diagnosis and he's his dad's double in every way.

My uncle - that nephew's grandfather - probably was on the spectrum to some degree, I now reckon. He and at least two other male members of the family used to self-medicate via alcohol.

I was diagnosed with OCD (obsessive ruminations) when I was in my late 30s. 30 years later I've been told that I probably have ASDS and ADHD.

It helps me to make sense of some things, but I've been fortunate - I've managed along the way with some difficulties, but I had a decent job and had a good husband. There's no point in looking for a formal diagnosis now.

You have 4 children, 4 siblings who are all autistic and you're not convinced it's genetic? Do you think they just hit every branch on the autism tree on their way down?

It’s ok! I’m really glad that things have finally started to shift with understanding neurodivergence in girls/women. It really upsets/angers me when people try to minimise the experience of ND too and to think of all those that suffered before us, just awful.

Only after having my DD ( 4 years ago now) and suffering horrendously postpartum I sought a diagnosis.
I’m definitely worried about the impacts menopause will have but I’m at least medicated now which should help.

Wishing you all the best!!

My son regressed just before 18 months. This is quite common among those with severe autism but ofcourse people with old school/ classical autism are less likely to be included in research due to the nature of their disability. I have seen encephalitis discussed in research for this group in particular due to the regression.

My first thought when I saw the facebook post from NAS was that they'd let the wokey intern/ work experience look after their facebook for the day.

I have no doubt that genetics play a significant part in autism but I highly doubt that everyone diagnosed with autism has the same condition/ disorder rather it is a mix of conditions that all have the same label/ diagnosis (umbrella diagnosis).

I really wish they would start to split the diagnosis into groups so that what causes each condition could be pinpointed rather than a generic "it's genetic" and we won't disclose/ don't know which genes are the cause. That way we could have genetic counselling and those who are likely to have children with severe autism could avoid it.

I have seen posters mention de novo genetic mutations which ofcourse don't run in families. NAS should be making this clear too.

There is a lot of autism in my family so I am not surprised and read a few years ago that genetics played a large part. When both my granddaughters, my daughter and my nieces were all diagnosed as ASD/Adhd and I suspect my husband although he has not sought a diagnosis that seems more likely than coincidence.

It wasn’t the drugs.

I have seen posters mention de novo genetic mutations which ofcourse don't run in families. NAS should be making this clear too.

The first occurrence of a de novo condition doesn’t but thereafter it may be inherited.

Because the conditions with names are generally changes to only one chromosome, or at most three chromosomes.

What there are no published studies on are the genetic profiles of autistic people with poly genetic causes. Most cases of autism are the result of thousands of genes - the overall profile.

That's why there are tests for syndromes, some of which correlate to autism, but at least 80% of autism has no mapped genetic cause because there is no large scale definitive genetic study to provide the information.

If there were, there would be definitive tests for autism instead of it being diagnosed by observation and parental or self reporting.

Twin studies showed decades ago that it's genetic, but the details remain largely unknown because of ethical issues - map the genetics and the risk of eugenics is no longer theoretical.

Maybe have a little read of this https://www.autism.org.uk/advice-and-guidance/about-autism/what-causes-autism

Chromosomes contain genes
My son has a chromosome deletion which means some genes are missing
Other peoole can have a chromosone duplication which neans they have extra genes .

My son is just like me when I was a child and I'm pretty sure I'm autistic.
Shy, finds it hard to make friends, ocd, very anxious all of the time, explosive temper and basically can't deal with stress (meltdowns to the point where he kicks, hits and bites us).
We are awaiting an assessment for him, meanwhile at least 3 of his cousins have been diagnosed with autism/adhd.

I think there are so many kids being
diagnosed now, not because it's more common but because our generation simply got missed, we were just labelled as odd or shy for those of us who weren't severely on the spectrum. My ds masks very well in public apart from the social anxiety, but breaks down when he comes home from school..a lot of people don't believe us when we say how difficult it is, life is hard for a type 1 autistic as there's not really any help or recognition for those of us who "cope" on the outside when internally we are struggling. Almost 2 years since he was put on the list for an assessment.

Quite chromosomes are not synonymous with genes. Some people have chromosome deletion or duplications, others have single gene mutations.

If a person is profoundly impacted by a De novo mutation
Which many are its unlikely they will be having their own children

So many Autism studies require the participants to be able to complete a questionnaire or be interviewed! It'd be laughable if it wasn't so depressing.

I read somewhere that only 9% of studies done in the last 20 years include non verbal autistic participants. I can't remember the source unfortunately.

I think most people who are autistic or have autistic family members were already pretty confident it was genetic. There's usually more than 1 diagnosed and even if there aren't others diagnosed people are seeing those in the family that would definitely meet the diagnostic criteria.

Just found a source - Russell et al 2019 actually found that only 2% of studies included non verbal participants and only 6% included participants with intellectual disabilities:

Russell G, Mandy W, Elliott D, White R, Pittwood T, Ford T. Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis. Mol Autism. 2019 Mar 1;10:9. doi: 10.1186/s13229-019-0260-x. PMID: 30867896; PMCID: PMC6397505.

Never said it wasn’t - but syndromic autism (ie caused by a specific chromosome disorder) explains only 10% of cases, usually the severe cases that are seen accompanies by significant learning delay/difficulties and support needs, as I understand it. The remaining 90% are polygenic, who both present differently but also experience a completely different set of challenges - many of which with the right support/early intervention, are often ‘surmountable’ such that they can go on to work, have careers, live independently, and even marry and have children. I think it is this latter group that the OP is asking about, that the research referenced in the first post references, but I may be wrong.

The issue here is that the umbrella term is really too broad as awareness of the existence of these two types of autism, the differences between them, are not understood by most people. I personally only really have experience of and understanding of polygenic autism as it relates to my extended family and social network. Whilst some members of my family are significantly impacted in a way that may impacts their ability to live completely independently/work (two are considered ‘disabled’), the vast majority of us have muddled along for decades without a diagnosis and support, often very successfully in one or two discrete areas. However, both diagnosis and support early in our lives may have had a profound impact on overall life outcomes, relationships and upon our emotional and mental health.

None of this, I suspect, compares to the challenges experienced by the majority of syndromic autistic individuals.

If my son ever has children it would mean abuse, this is similar for most people with de novo mutations.

You can have two people with identical genes and one can be autistic and the other not.

@Imdunfer To have identical genes they would have to be identical twins. Do you know whether there have been studies of autism in identical twins?

I have, i find these quotes telling in terms of who their audience is and that they clearly haven't included families with severely impacted people in their proof reading. I would guess they only used actual autistics and because of this those who represent people like my son are missed out.

"There is no ‘cure’ for autism and most autistic people (and many others) believe there is no need for a cure or for any kind of therapy to ‘treat’ autism. These ideas are offensive to many autistic people."

I would love a cure or treatment for my son's autism as I would if he was severely disabled by any other condition. Why would I want him to be severely disabled?

"No. It is offensive to many autistic people and their families to talk about autism as if it is a bad thing and someone or something must be to ‘blame’."

Autism isa bad thing, it's a disability?

I've linked to a meta-analysis of identical twin studies up thread. An analysis of data on 366 pairs of identical twins found 96% concordance. Results from other studies vary from 60% upwards.

Never said it wasn’t - but syndromic autism (ie caused by a specific chromosome disorder) explains only 10% of cases, usually the severe cases that are seen accompanies by significant learning delay/difficulties and support needs, as I understand it. The remaining 90% are polygenic

You are ignoring the huge confounder - progress of genetics in identifying genes. Even over the last ten years this has exploded.

Hence the word ‘may’. Many with de novo mutations are not as profoundly affected and do go onto have families.

Yes, this is I had read.