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.

Thank you very much @Wechsel.

Oh my goodness!

The NAS have made me quite angry doing this. I understand why they've done it but it is wrong. There is no definitive proof, no new evidence and they've ignored and down played other factors. They even admit on their website that other things can cause autism. There is no genetic test, they can't even say which genes they think cause autism.

What makes me most angry is the push that it is inherited when fot some especially those that have a loved one with a de novo mutation it isn't. While they do mention de novo on their website they play it down. They have quite a few slides or graphics saying things like genes from parents...

I know that what is classed as autism has widened in recent years and can see that for those who have high functioning/ quirky/ aspergers type where they can see patterns in their family this maybe comforting. Autism is a sympton and is likely many different conditions diagnosed with the same label.

"for those who have high functioning/ quirky/ aspergers type where they can see patterns in their family this maybe comforting."

I'm not sure it's fair to use slashes between high functioning, quirky, and aspergers (sic) type in such a dismissive way, tbh. Nobody gets an autism diagnosis for being 'quirky'.

Unless a genetic syndrome is associated with ASD as a feature, it would be very hard to tell if someone has a de novo genetic condition and ASD, or whether they have ASD as a result of the de novo condition.

I think there's too much division in the world of ASD, tbh. So much infighting. Ridiculous claims by people that there needs to be a separate category for 'profound autism' which denies the complexity of many people with ASD simply because they are verbal. Equally ridiculous claims by people who are clearly more able that they have 'level 3 days'.

We don't see this fighting in any other disability sector. You don't see families who care for people with Downs Syndrome saying 'But Lucy has Downs and hip dislocation', and you don't see amputees saying 'but my amputation was an inch higher'.

I also don't get this notion of a cure. What is that?? Who would DD1 be if she didn't have ASD? It's not sprinkles on ice-cream. It's Blackpool Rock. It goes right through the core. There's no DD1 without her ASD. It's not a bad bit of an apple that you can cut away. Yes, of course it would be lovely to reduce the effect of the disabling features, but a cure is a ridiculous notion.

This finding means nothing in the day to day lives of anyone. It just means what any sensible person already knew: you didn't cause it, it isn't your fault, it was never going to be any different. Just like the parents of type 1 diabetics. It was there and primed, ready for action. Just because it wasn't evident at birth doesn't mean they 'caught' diabetes.

Absolutely this. Theres another thread about trans somewhere, where someone quoted the WHO saying that gender dysphoria is not considered a MH condition now.

This decision was not fact, science or evidence based and its the same with the change in autism severity degrees, it was lobbying, a loud minority of an ASD 'community' with lots of power behind them.

It will change again because as others have said, there was dissatisfaction at the time with the change and most professionals recognise it has caused a lot of difficulty.

I understand your point about the infighting but I don't agree. The arguments have been caused by the expansion of who is diagnosed with autism. Those who were previously represented are now vastly under represented in their views and in research etc. A previous poster gave stats on this.

Some of us have been told our childs autidm is directly linked to a de novo mutation. That shouldn't be disregarded because it doesn't fit with the NAS narrative.

I want a cure for my son, i'd love it, i'd give anything for it. Nobody would question a parent wanting their severely disabled child to be cured of anything else. It might run through him to his cure or in my son's case it's disabled him, every part of him, it's robbed him of so much that everyone else takes for granted. It's awful that research has been stopped because some people see autism as an identity rather than a disability. Just because you don't want a cure doesn't mean one shouldn't be sought. It would be amazing if we could irradicate autism from those who are severely disabled by it. I'd also love genetic screening for it similar to how we screen for ds so parents can choose.

There are groups of people who do have legitimate questions over other factors which could have impacted their children. These should be investigated rather than brushed under the rug to placate the most vocal.

Some people are more disabled by their autism than others are, not everyone with autism has the same amount. It is likely that there are many different conditions given the label of autism. Why should some groups not be able to discuss and describe their condition or their loved ones condition because others find it deminishing of theirs? - this is partially why profound autism needs to be included in the next lot of criteria. The diagnosis does need splitting so people can talk about it with words that describe it throughly and research, help and support can be given appropriately.

I think it's worth clarifying what happened with some of the research that was stopped after protests, because it wasn't simply a case of autistic people objecting to research because they view autism as an identity.

Spectrum 10K is probably the best-known example. There absolutely were concerns about the potential future use of genetic research for prenatal screening/eugenics, but there were also legitimate research-ethics concerns around consent, data governance, future use of genetic data and what happened to that data long-term.

That becomes particularly complicated when, quite rightly, you want research to include autistic people with profound disabilities. Some may lack the capacity to understand and consent to complex genomic research themselves, so you then have difficult questions about proxy consent and how far somebody else should be able to consent to non-therapeutic genetic research on their behalf.

Spectrum 10K was paused while those issues were considered and ultimately closed in 2025, with the samples and data destroyed. So I don't think it's accurate to reduce what happened to “research was stopped because some people see autism as an identity rather than a disability”. There were genuine ethical and governance questions involved.

I do agree, though, that people with profound autism/high support needs need to be adequately represented in autism research. The difficulty is finding ways to do that which also protect a particularly vulnerable group of research participants.

Some of us have been told our childs autidm is directly linked to a de novo mutation. That shouldn't be disregarded because it doesn't fit with the NAS narrative.

https://pmc.ncbi.nlm.nih.gov/articles/PMC8410909/

Yes, and according to this paper, de novo mutations actually contribute to autism quite a bit —overall to 30-39% of cases, but 9 -11% in high risk families and 52 - 67% in low-risk families. (Low-risk families are the ones where there aren’t lots of ND relatives.)
Still genetic of course, but not inherited.

What you wrote is correct and I did simplify my reply to pp which is more complicated.

I believe the project would have continued if "voices of the autistic" weren't so vocal with their concerns around eugenics. I also wonder how much is really protection and how much of that protection is a convenient excuse. My son was signed up for 10k after being on 10000 genome project. I personally want as much research as possible.

It does feel that those with severe autism are used to both validate and justify autism as a disability for those with fewer needs/ less severe and as a reason to stop research which could give so many answers. At the same time we are often told that our children have autism plus (usually ld) to other them from the diagnosis.

I completely understand wanting as much research as possible, particularly when your own child has profound needs and you've been looking for answers.

I don't think it's fair to dismiss the protection concerns as potentially a convenient excuse. They weren't just objections from vocal autistic campaigners. The HRA and Research Ethics Committee themselves identified substantive questions around data use, withdrawal, safeguards and particularly consent for children and adults lacking capacity.

In fact, Spectrum 10K specifically wanted to recruit more autistic adults who lacked capacity because that group is underrepresented in research. I agree that they should be represented but the very fact they may be unable to give informed consent themselves means the ethical bar has to be higher, not lower.

Genetic data isn't just a saliva sample used to answer today's research question. It can potentially be retained, linked to health information and reused for future research that couldn't even have been anticipated when consent was given. That's why governance matters.

I don't see wanting research and wanting those protections as opposing positions. I want profoundly disabled autistic people included in research precisely because we need to understand them better, but I also want them afforded particularly strong protections because they're among the people least able to protect their own interests.

I know it's a huge cliché but data is the new oil. In fact, the more valuable and reusable the dataset is, the more important questions become about who controls it, who gets access, secondary research, commercial partnerships, retention periods, withdrawal, what happens if an organisation closes or is acquired, and whether genuinely meaningful consent was possible. There is a lot of data that you can change if it is acquired by someone else, but you can't change your genome. The biggest concern is that data being misused whilst not providing any clinical benefit to the participants.

Before this level of research continues, we need guaranteed and stronger safeguards in place with complete transparency about what will happen to that data.

I've also been thinking about how difficult it has been to develop and approve gene therapies for conditions where we do know the specific genetic cause. Sanfilippo syndrome, for example, has only just had its first FDA-approved treatment for type A after all the hurdles involved in developing UX111.

Sanfilippo A can be identified genetically and has a known disease mechanism. The hope with gene therapy, particularly if combined with newborn screening, is to intervene early enough to slow the progression of the disease and preserve development and quality of life before irreversible damage occurs. I know that the mechanism of this damage is due to enzyme function, which is distinctly different to what we know about autism so far.

Autism is very different. We know of many genes and variants associated with autism, but there isn't a single identifiable genetic cause of autism, and in most autistic people there isn't one specific mutation we can point to and target.

So even if gene therapies eventually become possible for some specific genetic forms of neurodevelopmental disability associated with autism, I struggle to see how that translates into a “cure for autism”. If we don't know which genetic mechanism we're targeting, can't reliably identify at birth who will develop which autistic phenotype, and much of that person's neurodevelopment has already occurred by the time autism becomes apparent, what exactly would the treatment be expected to reverse?

I thought this was already common knowledge. Its how a lot of parents are finding out they are also autistic. My whole family is and then I look at my friends and realise why they are my friends. ND people are drawn to other ND people. This is why It can be hard for ND people to know what typical is and not see the signs.

@Jimmyneutronsforehead you are clearly know more about this than i and probably most others do especially in terms of the science.

My son's genome is already "out there" with my own and my dh's from 10000 genome project and we gave consent for them to be used in the future. I know from the fbk group for participants people are still getting results from this project where their sample/ genome has been looked at again. I don't have an issue with it being used for eugenics to stop or give people choice about having children like my son.

I do find it questionable that I'm given input into all best interests decisions and hopefully deputyship for welfare but that strangers (not you personally) are able to dictate that answers we seek are too dangerous to get because of how that info could be used. I think it's an excuse and the people that are scared aren't those who are impacted severely.

Politics has already been touched on in terms of how autism is defined, imagibe if there is a shared genetic issue that people with severe autism have that those with fewer needs don't have. It wouldn't go down too well would it? I think this plays a part in the research being stopped. As well as the businesses, industries and money in autism.

The use of our data and how it maybe used isn't as important to me as it probably should be. It's less important than the information we might get.

While a cure isn't possible now, it could be in the future, we don't know what developments may happen. If we can help future people avoid this disability we should. That doesn't mean I think my ds' life isn't valuable. I wouldn't be without him and i'd argue his life is worth more then some others because of the happiness he brings. He is severely disabled and i won't ever stop hoping for a cure or therapy that could help him.

Autism being expanded hasn't helped in terms of linking genes to the diagnosis. Giving different diagnoses to different presentations is a start. Do I believe there is a genetic component- yes very much, do i believe that my son and people like him have the same mutations as somebody diagnosed in their 50's with a family and a career, absolutely not.

PANS/ PANDAS/ encephilitus (sp?) Do need investigating especially in regards to where people have regressed and then been given an autism diagnosis. Families are hopeful that research may yield real results in these areas especially.

There is just so much unknown, simply saying it's genetic isn't helpful or good enough.

I know i'm a lay person in this but if NAS and others want everyone to go along with this narritive these need addressing in equal amounts as the infographics they've put out saying it's genetic because they say so.

I have often wondered about this... one of my children had genetic testing carried out which came back with no genetic conditions. My child's sample has been retained as they apparently check incase anything else happens to be found at a later date. My child is non-verbal. My child has a lot of care needs and does not recognise danger, for example. I would definitely be more willing to seek out a care for my child due to the fact I cannot see how it would ever be possible for independent living. There are also learning difficulties. One of my other children is autistic and manages independent living. I would never ever look at any type of potential cure for them. It is understandable that a parent of a severely disabled child would be more inclined towards a cure. We know how limited our children are and it is beyond heartbreaking. It is horrific. My child is still in pull-ups.

Recently diagnosed here and this was explained to me. The psychiatrist said it was genetic and probing my family history (both parents no longer here) it appears the case. My sister has also been told she is on the spectrum. It’s stopped me blaming myself for my difficulties as I was always gaslighted into thinking I was very flawed.

My issue with the term 'cure' is that I can't see how the person would be the same person if their ASD were cured. Don't get me wrong - if the things that stop life being so limited could be reduced or improved, all for it. But cure implies no ASD traits at all. Some ASD traits are useful, and imo preferable to NT traits.

My understanding of Sanfillipo syndrome is that the baby is born 'normal' and then issues arise because the body is unable to break down glycosaminoglycans. That, imo, it's very different from ASD, which is accepted to be present from birth. I understand that some children experience a sharp developmental regression which signposts their ASD, but most parents of children with ASD can look back and describe clues that they may not have been alert to that their child was different. I know with DD1, apart from the fact that the midwife saw her facial features and thought she looked like she had Downs Syndrome, I was raising anomalies from weeks old. Of course, I was told I was neurotic, 'being a nurse', and 'reading the text books', but I was right.

I guess I'm uncomfortable with the idea that me, my DH, my DDs would somehow be 'better' if the thing that makes us us wasn't a thing. I know I speak with enormous privilege because I can have this conversation, but I also speak for DD1, who could have a conversation but wouldn't grasp the implications of it.

@Lougle i think this is why different diagnoses would help. If the label was different it wouldn't be as insulting (hope that word is ok to use) to people like yourself.

I love my son more than i can describe but would cure his autism in a heartbeat because he can't be him with it. It stops him from showing us who he really is and from becoming the person he should/ could have been without it.

I don't want a cure/ treatment/ therapy to not be found because people more able don't want it to change them. I think this is a bigger problem with the diagnosis being given to so many people who are completely different. My son isn't like you, that is quite clear.

I know you've already said you're against splitting autism upthread (that's how i took your post esp in reg to profound autism) but you can't insist you all share the same diagnosis and then dictate what is best for those with that diagnosis that aren't as able as you - meant more as a group of more able/ vocal people speaking for everyone with the autism diagnosis.

(I have seen you post previously on related topics/ threads and I know you are reflective/ thoughtful. I'm not looking to argue or insult etc, but I think my ds' interests should always be represented and too often those of people like him are over riden by those more able. I hope we can respect each others different opinions.)

I think I would be better if the thing that makes me me wasn’t present. I would be far more able and far less distressed without autism. I love my children deeply but I can appreciate their lives would be easier without the presence of autism. I would remove it in a heartbeat for the opportunity to live a better life. Being autistic is exhausting.

@SupernaturalAddict thank you for recognising that I'm not looking for conflict. These subjects are so difficult.

I do find it interesting that you think I should want to dictate what is best for a group I don't belong in, when you are doing the same by saying that you think your DS should have a cure. I wonder if you've overlooked the fact that my DD, although verbal, also I needs 24/7 care, will never be independent, and needs support with all ADLs? I would never describe her as profoundly autistic but her needs are significant enough that no residential college is prepared to take the LA's money and no social care provision to date has worked. I guess that's one of my reservations with categories - I can't see one she would fit in.

I suppose my question is more about what is the essence of a person. For me, DD1 is the whole of her and it's impossible to separate out what parts of her personality is to do with her brain malformation, her learning disability, her ASD, or her ADHD.

I guess I'm quite the hypocrite though, because if I could cure her mental health difficulties, I would. Yet, I see those as being caused by being in unsuitable environments with damaging expectations of her because her verbosity implied a level of understanding that she didn't have. Her distress behaviours were interpreted as attitude and she is damaged beyond all recognition from it. I would also cure her physical difficulties which stop her from enjoying activities.

Yes, but this is my issue. I'm my eyes you wouldn't be you. You'd be a person but not the one you are.

For me that’s ok. The person I am is tired.

Yes, the mechanism behind Sanfilippo is completely different. My comparison was more about how difficult it has been to develop gene therapy even for a condition where we can identify the genetic cause and understand the mechanism behind it. It's taken this long to achieve an approved gene therapy for just one of the four types of Sanfilippo, which is partly why I'm sceptical that gene therapy could ever provide a general treatment for autism.

We simply don't understand enough about how the many genetic variants associated with autism translate into the enormous range of autistic phenotypes, and there doesn't appear to be one common genetic abnormality or biological mechanism to correct.

Sanfilippo is also progressive, whereas autism is neurodevelopmental, with relevant differences in brain development beginning prenatally. For preventative gene therapy to work, we'd potentially need to know which variants cause which developmental changes, identify them prenatally or extremely early in life, and intervene before those changes occur. Yet at that stage we often couldn't reliably predict what that individual's eventual phenotype or support needs would have been.

I'm not an expert in biology, but early development is a particular interest of mine. The first few years involve extraordinary neurological development, and some developmental processes have sensitive or critical periods. Once a developmental trajectory has already occurred, correcting an underlying genetic mechanism later wouldn't necessarily undo the development that has already taken place.

That's why I can imagine gene therapies eventually treating particular genetic disorders or mutations associated with an autistic phenotype, but I find the idea of gene therapy as a general “cure for autism” much harder to envisage.

I could have chosen a different genetic disorder, I was only using Sanfillipo as a point of reference for gene therapy, not saying that it shares any similarities with autism itself as a diagnosis.

I don't see myself as being hypercritical because I don't see either yourself or your daughter as having the same condition as my son as their needs aren't the same. I do recognise that your daughters needs are significant/ severe but in a different way to my ds'. This is why I support the profound autism diagnosis. You're all different.

I really do believe that it would help especially with research to separate the diagnosis. Autism is just a group of symptons of likely lots of different conditions. I don't think it does any good to group such a large number of people who are so different. We need to start breaking it down and investigating what is really going on.

What's included in the diagnosis has changed with time and as previously discussed political motivations.

Where would the lines be drawn? What demarcates the different categories of these conditions for you?

I'm struggling to see how it works. I have 5 people with ASD diagnoses in this house and we are all very different in our needs. How would you group people?

By how they present but ultimately it isn't down to me. I think profound would be a start. Why do you want them all grouped together? Would it really hurt you or your daughter if some people were given the profound label to signal a set group of needs? If so how and why? We don't worry about different types of other confitions.

I don't know why people get so worked up by grouping people with clearly different needs together. It could lead to some amazing results and would be a much easier way for our family to communicate how our son is. At the moment autism means anything. I suspect it's because to some extent those with tbe most needs justify that autism is a severe disabity for support purposes and by association helps those with significant but other needs. I believe that this was one of the reasons Aspergers was removed following lobbying.

It's a bit chicken and egg. Grouping people with the same or very similar needs may lead to a genetic sign that could be tested for. Having genetic marker could group people.

Autism is just a group of behaviours that people have at different severities. It needs breaking down. We need more research and more specifity.

"Would it really hurt you or your daughter if some people were given the profound label to signal a set group of needs?"

I'm asking how you would define profound and how you would expect those who don't quite meet the definition you set but still have extensive needs to be catered for? For example, Ehlers Danlos Syndrome specialists are facing a dilemma because there are many people who have quite extreme needs who don't fit the narrow diagnostic criteria by one point or another.

Many autistic people are denied services from LD teams because they don't have a diagnosed LD, even though they have similar functioning profiles to those who do. It's the LD teams who have the SALT, OT, Psychology, etc.

I think it's unlikely that this will be resolved. I know I'm exhausted by years of following a cycle where I tell people DD1's needs, they tilt their head and think 'helicopter parent', decide they know better, then say 'ohhh....' when is all going wrong and they've stuffed up beyond repair. I know it's exhausting when college after college turn her down because they can't meet need. When social care fails, again. There is no respite because we have the hours but not the people. But hey, she can talk, so....