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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The temptation to fix their big feelings can be seismic. Often this is connected to needing to ease our own discomfort at their discomfort, which is so very normal.

Big feelings in them are meant to raise (sometimes big) feelings in us. This is all a healthy part of the attachment system. It happens to mobilise us to respond to their distress, or to protect them if their distress is in response to danger.

Emotion is energy in motion. We don’t want to bury it, stop it, smother it, and we don’t need to fix it. What we need to do is make a safe passage for it to move through them. 

Think of emotion like a river. Our job is to hold the ground strong and steady at the banks so the river can move safely, without bursting the banks.

However hard that river is racing, they need to know we can be with the river (the emotion), be with them, and handle it. This might feel or look like you aren’t doing anything, but actually it’s everything.

The safety that comes from you being the strong, steady presence that can lovingly contain their big feelings will let the emotional energy move through them and bring the brain back to calm.

Eventually, when they have lots of experience of us doing this with them, they will learn to do it for themselves, but that will take time and experience. The experience happens every time you hold them steady through their feelings. 

This doesn’t mean ignoring big behaviour. For them, this can feel too much like bursting through the banks, which won’t feel safe. Sometimes you might need to recall the boundary and let them know where the edges are, while at the same time letting them see that you can handle the big of the feeling. Its about loving and leading all at once. ‘It’s okay to be angry. It’s not okay to use those words at me.’

Ultimately, big feelings are a call for support. Sometimes support looks like breathing and being with. Sometimes it looks like showing them you can hold the boundary, even when they feel like they’re about to burst through it. And if they’re using spicy words to get us to back off, it might look like respecting their need for space but staying in reaching distance, ‘Ok, I’m right here whenever you need.’♥️
We all need certain things to feel safe enough to put ourselves into the world. Kids with anxiety have magic in them, every one of them, but until they have a felt sense of safety, it will often stay hidden.

‘Safety’ isn’t about what is actually safe or not, but about what they feel. At school, they might have the safest, most loving teacher in the safest, most loving school. This doesn’t mean they will feel enough relational safety straight away that will make it easier for them to do hard things. They can still do those hard things, but those things are going to feel bigger for a while. This is where they’ll need us and their other anchor adult to be patient, gentle, and persistent.

Children aren’t meant to feel safe with and take the lead from every adult. It’s not the adult’s role that makes the difference, but their relationship with the child.

Children are no different to us. Just because an adult tells them they’ll be okay, it doesn’t mean they’ll feel it or believe it. What they need is to be given time to actually experience the person as being safe, supportive and ready to catch them.

Relationship is key. The need for safety through relationship isn’t an ‘anxiety thing’. It’s a ‘human thing’. When we feel closer to the people around us, we can rise above the mountains in our way. When we feel someone really caring about us, we’re more likely to open up to their influence
and learn from them.

But we have to be patient. Even for teachers with big hearts and who undertand the importance of attachment relationships, it can take time.

Any adult at school can play an important part in helping a child feel safe – as long as that adult is loving, warm, and willing to do the work to connect with that child. It might be the librarian, the counsellor, the office person, a teacher aide. It doesn’t matter who, as long as it is someone who can be available for that child at dropoff or when feelings get big during the day and do little check-ins along the way.

A teacher, or any important adult can make a lasting difference by asking, ‘How do I build my relationship with this child so s/he trusts me when I say, ‘I’ve got you, and I know you can do this.’♥️
There is a beautiful ‘everythingness’ in all of us. The key to living well is being able to live flexibly and more deliberately between our edges.

So often though, the ‘shoulds’ and ‘should nots’ we inhale in childhood and as we grow, lead us to abandon some of those precious, needed parts of us. ‘Don’t be angry/ selfish/ shy/ rude. She’s not a maths person.’ ‘Don’t argue.’ Ugh.

Let’s make sure our children don’t cancel parts of themselves. They are everything, but not always all at once. They can be anxious and brave. Strong and soft. Angry and calm. Big and small. Generous and self-ish. Some things they will find hard, and they can do hard things. None of these are wrong ways to be. What trips us up is rigidity, and only ever responding from one side of who we can be.

We all have extremes or parts we favour. This is what makes up the beautiful, complex, individuality of us. We don’t need to change this, but the more we can open our children to the possibility in them, the more options they will have in responding to challenges, the everyday, people, and the world. 

We can do this by validating their ‘is’ without needing them to be different for a while in the moment, and also speaking to the other parts of them when we can. 

‘Yes maths is hard, and I know you can do hard things. How can I help?’

‘I can see how anxious you feel. That’s so okay. I also know you have brave in you.’

‘I love your ‘big’ and the way you make us laugh. You light up the room.’ And then at other times: ‘It can be hard being in a room with new people can’t it. It’s okay to be quiet. I could see you taking it all in.’

‘It’s okay to want space from people. Sometimes you just want your things and yourself for yourself, hey. I feel like that sometimes too. I love the way you know when you need this.’ And then at other times, ‘You looked like you loved being with your friends today. I loved watching you share.’

The are everything, but not all at once. Our job is to help them live flexibly and more deliberately between the full range of who they are and who they can be: anxious/brave; kind/self-ish; focussed inward/outward; angry/calm. This will take time, and there is no hurry.♥️
For our kids and teens, the new year will bring new adults into their orbit. With this, comes new opportunities to be brave and grow their courage - but it will also bring anxiety. For some kiddos, this anxiety will feel so big, but we can help them feel bigger.

The antidote to a felt sense of threat is a felt sense of safety. As long as they are actually safe, we can facilitate this by nurturing their relationship with the important adults who will be caring for them, whether that’s a co-parent, a stepparent, a teacher, a coach. 

There are a number of ways we can facilitate this:

- Use the name of their other adult (such as a teacher) regularly, and let it sound loving and playful on your voice.
- Let them see that you have an open, willing heart in relation to the other adult.
- Show them you trust the other adult to care for them (‘I know Mrs Smith is going to take such good care of you.’)
- Facilitate familiarity. As much as you can, hand your child to the same person when you drop them off.

It’s about helping expand their village of loving adults. The wider this village, the bigger their world in which they can feel brave enough. 

For centuries before us, it was the village that raised children. Parenting was never meant to be done by one or two adults on their own, yet our modern world means that this is how it is for so many of us. 

We can bring the village back though - and we must - by helping our kiddos feel safe, known, and held by the adults around them. We need this for each other too.

The need for safety through relationship isn’t an ‘anxiety thing’. It’s a ‘human thing’. When we feel closer to the people around us, we can rise above the mountains that block our way.♥️

That power of felt safety matters for all relationships - parent and child; other adult and child; parent and other adult. It all matters. 

A teacher, or any important adult in the life of a child, can make a lasting difference by asking, ‘How do I build my relationship with this child (and their parent) so s/he trusts me when I say, ‘I’ve got you, I care about you, and I know you can do this.’♥️
Approval, independence, autonomy, are valid needs for all of us. When a need is hungry enough we will be driven to meet it however we can. For our children, this might look like turning away from us and towards others who might be more ready to meet the need, or just taking.

If they don’t feel they can rest in our love, leadership, approval, they will seek this more from peers. There is no problem with this, but we don’t want them solely reliant on peers for these. It can make them vulnerable to making bad decisions, so as not to lose the approval or ‘everythingness’ of those peers.

If we don’t give enough freedom, they might take that freedom through defiance, secrecy, the forbidden. If we control them, they might seek more to control others, or to let others make the decisions that should be theirs.

All kids will mess up, take risks, keep secrets, and do things that baffle us sometimes. What’s important is, ‘Do they turn to us when they need to, enough?’ The ‘turning to’ starts with trusting that we are interested in supporting all their needs, not just the ones that suit us. Of course this doesn’t mean we will meet every need. It means we’ve shown them that their needs are important to us too, even though sometimes ours will be bigger (such as our need to keep them safe).

They will learn safe and healthy ways to meet their needs, by first having them met by us. This doesn’t mean granting full independence, full freedom, and full approval. What it means is holding them safely while also letting them feel enough of our approval, our willingness to support their independence, freedom, autonomy, and be heard on things that matter to them.

There’s no clear line with this. Some days they’ll want independence. Some days they won’t. Some days they’ll seek our approval. Some days they won’t care for it at all, especially if it means compromising the approval of peers. The challenge for us is knowing when to hold them closer and when to give space, when to hold the boundary and when to release it a little, when to collide and when to step out of the way. If we watch and listen, they will show us. And just like them, we won’t need to get it right all the time.♥️

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