What Causes Autism? New Research Unlocks More Secrets

What Causes Autism? New Research Unlocks More Secrets

A number of disorders exist on the autism spectrum (ASD). These include autism, pervasive developmental disorder not otherwise specified, and Asperger syndrome. ASD holds its secrets closely, but researchers are working hard to understand its causes and find ways to improve the lives of those who have the disorder, and the families who love them.

People with ASD have a different way of learning, paying attention or reacting to things. The ability to learn, think and problem solve varies greatly in people with ASD, from gifted to severely challenged. They also show differences in the way they relate to people and the way they communicate or deal with emotion. The severity and combination of symptoms can vary vastly from person to person, but the symptoms are likely to include:

  • a resistance to change,
  • difficulty adapting to changes in routine,
  • repetitive actions,
  • repetitive play,
  • repetition of words or phrases,
  • little or no interest in other people or objects,
  • may show interest in people but not able to relate to them,
  • difficulty understanding other people’s feelings and expressing their own,
  • avoids or resists being cuddled or seem to ignore people when spoken to, but responsive to other sounds,
  • difficulty expressing what they want,
  • unusual reactions to the way things look, sound, smell, taste or feel,
  • obsessive interests,
  • prefers to ply alone,
  • difficult to comfort during distress,
  • reverses pronouns (‘you’ instead of ‘I’),
  • does not play pretend games.

What Causes Autism?

We don’t know exactly what causes ASD. Up to now, differences in brain development have been thought to be the cause. New research, published in the journal Cell, has found that there seems to be more to it than that. 

A study in mice has found that some symptoms of ASD, such as touch perception, anxiety and social difficulties, are caused by problems with the nerve cells that send sensory information (such as information about touch) to the brain. They are the nerves that are found in the arms and legs, fingers and toes, and other parts of the body. (Researchers often use mice in their studies because of genetic and biological similarities between mice and humans.)

It is as though the volume of these nerve cells is turned up, so the sensation of touch is exaggerated and intense. This seems to lead to anxiety and the behavioural problems that are often associated with ASD.

“An underlying assumption has been that ASD is solely a disease of the brain, but we’ve found that may not always be the case.” David Ginty, Professor of Neurobiology at Harvard Medical School.

The Research. What they did.

Though the exact cause of ASD is unknown, there does seem to be a genetic basis. Exactly how this genetic vulnerability leads to the development of ASD is unclear, and this is where the work lies for researchers. Is there a specific combination of genes? Do the gene mutations interact with something in the environment? So many questions, but researchers are getting closer to uncovering more of the secrets of ASD.

As part of the study, researchers looked at a number of genes mutations that are known to be associated with ASD in humans.  They genetically engineered the mice to have these mutations only in the cells of their peripheral sensory nerve cells. These are the nerve cells in the extremities of the body – arms, legs, fingers toes.

They also looked at two other genes that have been associated with behaviours that are typical of ASD. These genes are crucial for nerve cells to function normally, and previous research has connected the mutations to problems with the way nerve cells communicate with each other. 

(For the scientific ones out there, researchers were looking at mutations in the Mecp2, Gabrb3, Shank3, and Fmr1 genes.)

“Although we know about several genes associated with ASD, a challenge and a major goal has been to find where in the nervous system the problems occur … By engineering mice that have these mutations only in their peripheral sensory neurons, which detect light touch stimuli acting on the skin, we’ve shown that mutations there are both necessary and sufficient for creating mice with an abnormal hypersensitivity to touch.” David Ginty.

Sensitivity to touch.

The researchers looked at how the mice reacted when they were touched gently. In the study, the touch was from a gentle puff of air on their backs. The study also explored whether the mice could tell the difference between objects that had different textures.

The mice that were bred to have the ASD gene mutation in only their sensory nerve cells showed:

  • a heightened sensitivity to touch;
  • an inability to tell the difference between textures;
  • an abnormality in the transmission of impulses between the nerves in the skin and spinal cord – these are the nerves that send touch signals to the brain.
Anxiety and Social Interactions

The researchers then turned their attention to anxiety and the way the mice interacted socially. They looked at how much the mice avoided being out in the open and how they interacted with unfamiliar mice.

The mice that were bred to have the ASD gene mutations showed heightened levels of anxiety. They also interacted less with the mice they hadn’t seen before.

‘A key aspect of this work is that we’ve shown that a tactile, somatosensory dysfunction contributes to behavioral deficits, something that hasn’t been seen before … In this case, that deficit is anxiety and problems with social interactions.’ David Ginty.

The research has revealed the ‘what’, but the ‘how’ is still vague. What we know is that the mutations in the sensory nerve cells cause problems for the way the body interprets touch. This seems to contribute to anxiety and social problems, but exactly how it contributes isn’t yet clear. 

‘Based on our findings, we think mice with these ASD-associated gene mutations have a major defect in the ‘volume switch’ in their peripheral sensory neurons,’ Dr Lauren Orefice, researcher.

Because the volume of these nerve cells seems to be turned all the way up, the sensation of touch is strong and severe. 

‘The sense of touch is important for mediating our interactions with the environment, and for how we navigate the world around us … An abnormal sense of touch is only one aspect of ASD, and while we don’t claim this explains all the pathologies seen in people, defects in touch processing may help to explain some of the behaviors observed in patients with ASD.’ Dr Lauren Orefice.

Where to from here.

With every new piece of research, we move closer to finding a cure. Researchers are now looking into treatments that might turn down the ‘volume’ in the peripheral sensory neurons to levels that are more manageable. They are looking into both genetic and pharmaceutical possibilities.

11 Comments

Laurel

My 8 yo grandson has ASD with accompanying anxiety. He does not exhibit the anti -touch symptoms and is very loving. He is brilliant and gets bored easily with the classroom schedule and level of topics . He has difficulty playing with and relating to other children. The most difficult situations occur when he gets upset over a seemingly insignificant
Issue ( to others) and remains in the upset loop.
My heart aches for him and the family, as we are all
Affected by this divergence.
Thank you for the article. I look forward to future
Reports
Laurel

Reply
Hey Sigmund

You’re so welcome Laurel. Your grandson sounds like a gorgeous young man with so much to offer the world. Hopefully we are getting closer to understanding more about ASD. I will keep writing about new research here.

Reply
Lisa

Hi Karen, This is a great article that certainly offers us hope. My 19 year old has struggled with autism since the age of 2. He is a wonderful young man who will find life much easier if a cure can be found for his anxiety and touch sensitivity. My son agrees with me that his difficulties have felt like a ‘disorder’ in that he has needed a lot of support to find his place in the world and he would struggle without help. Finding a cure, or at least alleviating his anxiety, would be so beneficial for his independence. Thank you for this information.

Reply
Hey Sigmund

Thanks Lisa. There is so much research happening around this and I feel so sure they are getting closer to finding something that will ease symptoms and make life easier for people with autism. They deserve it. Hopefully soon.

Reply
Judy

What I need to know is how to relate to a child with autism. I have a 6-year-old grandson who is autistic and displays many of the characteristics mentioned above – ie: avoids eye contact, doesn’t respond to questions, runs back and forth flapping his arms/hands, is uncomfortable with touch/hugs. I don’t want to have unreasonable expectations of him. I find his father (my son who we now know has Aspergers syndrome) is often very stern with Connor – “Look at Nanny”, “Nanny asked you a question”, etc. What I really need is help in how to communicate and be with him, and with his father. Can you recommend a program in the Vancouver, BC area, or a book that would be of help. Personally, I don’t feel we should be trying to make him adapt so much as We need to adapt. Thank you.

Reply
Hey Sigmund

Judy there are some great organisations that can help you with this. I live in Australia, so can’t personally recommend any in Vancouver, but if you google ‘autism Vancouver’ there will be a number of them that come up. Have a look and see if there is something that feels as though it might be able to give you the support you need. It’s wonderful that you want to know how to be the best you can be for your grandson. Whatever you decide to do, it’s important that it is consistent with what his dad is doing. As with all kids, there needs to be as much consistency and clarity as possible so as not to confuse them about what to expect or the behaviours that are allowed.

Reply
Judy

Thank you so much for getting back to me, and so quickly. I really appreciate it. I particularly appreciate your advice re being consistent with what Connor’s dad is doing. That is very good reinforcement for me. And yes, I have been in touch with the Autism Society in Vancouver. However, they haven’t been very good at getting back to me. Also I live in a small community outside of Vancouver that is a ferry ride and travelling time to get to the city. If you could recommend a good book, that would be great.

Reply
Kristy Thorburn

The term ‘ASD’ is now considered offensive by many Autistic people. My understanding is that neurodivergence is no longer something considered to be ‘disordered’ – just different.

Reply
Hey Sigmund

Kristy, Austism Spectrum Disorder (‘ASD’) is the official clinical term used to refer to all conditions that lie on the autism spectrum, of which autism is one. It is the term set down by the American Psychiatric Association in the DSM-5 (the fifth edition of the Diagnostic and Statistical Manual) which is the official manual used by clinicians universally for diagnosis of all conditions to do with mental health. Here is a link to a paper by the American Psychiatric Association which explains their use of ASD in the DSM-5 http://www.dsm5.org/Documents/Autism%20Spectrum%20Disorder%20Fact%20Sheet.pdf. The research paper on which this article is based uses the term ASD as this is the official clinical term for all conditions that lie in the autism spectrum, of which autism is one. The link to the research paper is in the article.

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Behaviour is never from ‘bad’. It’s from ‘big’. Big hungry, big tired, big disconnection, big missing, big ‘too much right now’. The reason our responses might not work can often be because we’ve misread the story, or we’ve missed an important piece of it. Their story might be about now, today, yesterday, or any of the yesterdays before now. 

Our job isn’t to fix them. They aren’t broken. Our job is to understand them. Only then can we steer our response in the right direction. Otherwise we’re throwing darts at the wrong target - behaviour, instead of the need behind the behaviour. 

Watch, listen, breathe and be with. Feel what they feel. This will help them feel you with them. We all feel safer and calmer when we feel our people beside us - not judging or hurrying or questioning. What don’t you know, that they need you to know?♥️
We all have first up needs. The difference between adults and children is that we can delay the meeting of these needs for a bit longer than children - but we still need them met. 

The first most important question the brain needs answered is, ‘Is my body safe?’ - Am I free from threat, hunger, exhaustion, pain? This is usually an easier one to take care of or to recognise when it might need some attention. 

The next most important question is, ‘Is my heart safe?’ - Am I loved, noticed, valued, claimed, wanted, welcome? This can be an easy one to overlook, especially in the chaos of the morning. Of course we love them and want them - and sometimes we’ll get distracted, annoyed, frustrated, irritated. None of this changes how much we love and want them - not even for a second. We can feel two things at once - madly in love with them and annoyed/ distracted/ frustrated. Sometimes though, this can leave their ‘Is my heart safe?’ needs a little hungry. They have less capacity than us to delay the meeting of these needs. When these needs are hungry, we’ll be more likely to see big feelings or big behaviour. 

The more you can fill their love tanks at the start of the day, the more they’ll be able to handle the bumps. This doesn’t have to be big. It just has to be enough. It might look like having a cuddle, reading a story, having a chat, sitting with them while they have breakfast or while they pat the dog, touching their back when they walk past, telling them you love them.

All brains need to feel loved and wanted, and as though they aren’t a nuisance, but sometimes they’ll need to feel it more. The more their felt sense of relational safety is met, the more they’ll be able to then focus on ‘thinking brain’ things, such as planning, making good decisions, co-operating, behaving. 

(And if this today was a bumpy one, that’s okay. Those days are going to happen. If most of the time their love tanks are full, they’ll handle when it drops a little. Just top it up when you can. And don’t forget to top yours up too. Be kind to yourself. You deserve it as much as they do.)♥️
Things will always go wrong - a bad decision, a good decision with a bad outcome, a dilemma, wanting something that comes with risk. 

Often, the ‘right thing’ lives somewhere in the very blurry bounds of the grey. Sometimes it will be about what’s right for them. Sometimes what’s right for others. Sometimes it will be about taking a risk, and sometimes the ‘right’ thing just feels wrong right now, or wrong for them. Even as adults, we will often get things wrong. This isn’t because we’re bad, or because we don’t know the right thing from the wrong thing, but because few things are black and white. 

The problem with punishment and harsh consequences is that we remove ourselves as an option for them to turn to next time things end messy, or as a guide before the mess happens. 

Feeling safe in our important relationships is a primary need for all of us humans. That means making sure our relationships are free from judgement, humiliation, shame, separation. If our response to their ‘wrong things’ is to bring all of these things to the table we share with them with them, of course they’ll do anything to avoid it. This isn’t about lying or secrecy. It’s about maintaining relational ‘safety’, or closeness.

Kids want to do the right thing. They want us to love and accept them. But they’re going to get things wrong sometimes. When they do, our response will teach them either that we are safe for them to come to no matter what, or that we aren’t. 

So what do we do when things go wrong? Embrace them, reject the behaviour:

‘I love that you’ve been honest with me. That means everything to me. I know you didn’t expect things to end up like this, but here we are. Let’s talk about what’s happened and what can be different next time.’

Or, ‘Something must have made this (wrong thing) feel like the right thing to do, otherwise you wouldn’t have done it. We all do that sometimes. What do you think it was that was for you?’

Or, ‘I know you know lying isn’t okay. What made you feel like you couldn’t tell me the truth? How can we build the trust again. Let’s talk about how to do that.’

You will always be their greatest guide, but you can only be that if they let you.♥️
Whenever there is a call to courage, there will be anxiety - every time. That’s what makes it brave. This is why challenging things, brave things, important things will often drive anxiety. 

At these times - when they are safe, but doing something hard - the feelings that come with anxiety will be enough to drive avoidance. When it is avoidance of a threat, that’s important. That’s anxiety doing it’s job. But when the avoidance is in response to things that are important, brave, meaningful, that avoidance only serves to confirm the deficiency story. This is when we want to support them to take tiny steps towards that brave thing. It doesn’t have to happen all at once.l and it doesn’t matter how long it takes. Brave is about being able to handle the discomfort of anxiety enough to do the important, challenging thing. It’s built in tiny steps, one after the other. 

We don’t have to get rid of their anxiety and neither do they. They can feel anxious, and do brave. At these times (safe, but scary) they need us to take a posture of validation and confidence. ‘I believe you, and I believe in you.’ ‘I know this feels big, and I know you can handle it.’ 

What we’re saying is we know they can handle the discomfort of anxiety. They don’t have to handle it well, and they don’t have to handle it for too long. Handling it is handling it, and that’s the substance of ‘brave’. 

Being brave isn’t about doing the brave thing, but about being able to handle the discomfort of the anxiety that comes with that. And if they’ve done that today, at all, or for a moment longer than yesterday, then they’ve been brave today. It doesn’t matter how messy it was or how small it was. Let them see their brave through your eyes.‘That was big for you wasn’t it. And you did it. You felt anxious, and you stayed with it. That’s what being brave is all about.’♥️
A relationally unsafe (emotionally unsafe) environment can cause as much breakage as as a physically unsafe one. 

The brain’s priority will always be safety, so if a person or environment doesn’t feel emotionally safe, we might see big behaviour, avoidance, or reduced learning. In this case, it isn’t the child that’s broken. It’s the environment.

But here’s the thing, just because a child doesn’t feel safe, doesn’t mean the person or environment isn’t safe. What it means is that there aren’t enough signals of safety - yet, and there’s a little more work to do to build this. ‘Safety’ isn’t about what is actually safe or not, it’s about what the brain perceives. Children might have the safest, warmest, most loving adult in front of them, but that doesn’t mean they’ll feel safe. This is when we have to look at how we might extend bigger cues of warmth, welcome, inclusiveness, and what we can do (or what roles or responsibilities can we give them) to help them feel valued and needed. This might take time, and that’s okay. Children aren’t meant to feel safe with every adult in front of them, so sometimes what they need most is our patience and understanding as we continue to build this. 

This is the way it works for all of us, everywhere. None of us will be able to give our best or do our best if we don’t feel welcome, liked, valued, and free from hostility, humiliation or judgement. 

This is especially important for our schools. A brain that doesn’t feel safe can’t learn. For schools to be places of learning, they first have to be places of relationship. Before we focus too sharply on learning support and behaviour management, we first have to focus on felt sense of safety support. The most powerful way to do this is through relationship. Teachers who do this are magic-makers. They show a phenomenal capacity to expand a child’s capacity to learn, calm big behaviour, and open up a child’s world. But relationships take time, and felt safety takes time. The time it takes for this to happen is all part of the process. It’s not a waste of time, it’s the most important use of it.♥️

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