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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Big feelings, and the big behaviour that comes from big feelings, are a sign of a distressed nervous system. Think of this like a burning building. The behaviour is the smoke. The fire is a distressed nervous system. It’s so tempting to respond directly to the behaviour (the smoke), but by doing this, we ignore the fire. Their behaviour and feelings in that moment are a call for support - for us to help that distressed brain and body find the way home. 

The most powerful language for any nervous system is another nervous system. They will catch our distress (as we will catch theirs) but they will also catch our calm. It can be tempting to move them to independence on this too quickly, but it just doesn’t work this way. Children can only learn to self-regulate with lots (and lots and lots) of experience co-regulating. 

This isn’t something that can be taught. It’s something that has to be experienced over and over. It’s like so many things - driving a car, playing the piano - we can talk all we want about ‘how’ but it’s not until we ‘do’ over and over that we get better at it. 

Self-regulation works the same way. It’s not until children have repeated experiences with a adult bringing them back to calm, that they develop the neural pathways to come back to calm on their own. 

An important part of this is making sure we are guiding that nervous system with tender, gentle hands and a steady heart. This is where our own self-regulation becomes important. Our nervous systems speak to each other every moment of every day. When our children or teens are distressed, we will start to feel that distress. It becomes a loop. We feel what they feel, they feel what we feel. Our own capacity to self-regulate is the circuit breaker. 

This can be so tough, but it can happen in microbreaks. A few strong steady breaths can calm our own nervous system, which we can then use to calm theirs. Breathe, and be with. It’s that simple, but so tough to do some days. When they come back to calm, then have those transformational chats - What happened? What can make it easier next time?

Who you are in the moment will always be more important than what you do.
How we are with them, when they are their everyday selves and when they aren’t so adorable, will build their view of three things: the world, its people, and themselves. This will then inform how they respond to the world and how they build their very important space in it. 

Will it be a loving, warm, open-hearted space with lots of doors for them to throw open to the people and experiences that are right for them? Or will it be a space with solid, too high walls that close out too many of the people and experiences that would nourish them.

They will learn from what we do with them and to them, for better or worse. We don’t teach them that the world is safe for them to reach into - we show them. We don’t teach them to be kind, respectful, and compassionate. We show them. We don’t teach them that they matter, and that other people matter, and that their voices and their opinions matter. We show them. We don’t teach them that they are little joy mongers who light up the world. We show them. 

But we have to be radically kind with ourselves too. None of this is about perfection. Parenting is hard, and days will be hard, and on too many of those days we’ll be hard too. That’s okay. We’ll say things we shouldn’t say and do things we shouldn’t do. We’re human too. Let’s not put pressure on our kiddos to be perfect by pretending that we are. As long as we repair the ruptures as soon as we can, and bathe them in love and the warmth of us as much as we can, they will be okay.

This also isn’t about not having boundaries. We need to be the guardians of their world and show them where the edges are. But in the guarding of those boundaries we can be strong and loving, strong and gentle. We can love them, and redirect their behaviour.

It’s when we own our stuff(ups) and when we let them see us fall and rise with strength, integrity, and compassion, and when we hold them gently through the mess of it all, that they learn about humility, and vulnerability, and the importance of holding bruised hearts with tender hands. It’s not about perfection, it’s about consistency, and honesty, and the way we respond to them the most.♥️

#parenting #mindfulparenting
Anxiety and courage always exist together. It can be no other way. Anxiety is a call to courage. It means you're about to do something brave, so when there is one the other will be there too. Their courage might feel so small and be whisper quiet, but it will always be there and always ready to show up when they need it to.
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But courage doesn’t always feel like courage, and it won't always show itself as a readiness. Instead, it might show as a rising - from fear, from uncertainty, from anger. None of these mean an absence of courage. They are the making of space, and the opportunity for courage to rise.
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When the noise from anxiety is loud and obtuse, we’ll have to gently add our voices to usher their courage into the light. We can do this speaking of it and to it, and by shifting the focus from their anxiety to their brave. The one we focus on is ultimately what will become powerful. It will be the one we energise. Anxiety will already have their focus, so we’ll need to make sure their courage has ours.
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But we have to speak to their fear as well, in a way that makes space for it to be held and soothed, with strength. Their fear has an important job to do - to recruit the support of someone who can help them feel safe. Only when their fear has been heard will it rest and make way for their brave.
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What does this look like? Tell them their stories of brave, but acknowledge the fear that made it tough. Stories help them process their emotional experiences in a safe way. It brings word to the feelings and helps those big feelings make sense and find containment. ‘You were really worried about that exam weren’t you. You couldn’t get to sleep the night before. It was tough going to school but you got up, you got dressed, you ... and you did it. Then you ...’
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In the moment, speak to their brave by first acknowledging their need to flee (or fight), then tell them what you know to be true - ‘This feels scary for you doesn’t it. I know you want to run. It makes so much sense that you would want to do that. I also know you can do hard things. My darling, I know it with everything in me.’
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#positiveparenting #parenting #childanxiety #anxietyinchildren #mindfulpare
Separation anxiety has an important job to do - it’s designed to keep children safe by driving them to stay close to their important adults. Gosh it can feel brutal sometimes though.

Whenever there is separation from an attachment person there will be anxiety unless there are two things: attachment with another trusted, loving adult; and a felt sense of you holding on, even when you aren't beside them. Putting these in place will help soften anxiety.

As long as children are are in the loving care of a trusted adult, there's no need to avoid separation. We'll need to remind ourselves of this so we can hold on to ourselves when our own anxiety is rising in response to theirs. 

If separation is the problem, connection has to be the solution. The connection can be with any loving adult, but it's more than an adult being present. It needs an adult who, through their strong, warm, loving presence, shows the child their abundant intention to care for that child, and their joy in doing so. This can be helped along by showing that you trust the adult to love that child big in our absence. 'I know [important adult] loves you and is going to take such good care of you.'

To help your young one feel held on to by you, even in absence, let them know you'll be thinking of them and can't wait to see them. Bolster this by giving them something of yours to hold while you're gone - a scarf, a note - anything that will be felt as 'you'.

They know you are the one who makes sure their world is safe, so they’ll be looking to you for signs of safety: 'Do you think we'll be okay if we aren't together?' First, validate: 'You really want to stay with me, don't you. I wish I could stay with you too! It's hard being away from your special people isn't it.' Then, be their brave. Let it be big enough to wrap around them so they can rest in the safety and strength of it: 'I know you can do this, love. We can do hard things can't we.'

Part of growing up brave is learning that the presence of anxiety doesn't always mean something is wrong. Sometimes it means they are on the edge of brave - and being away from you for a while counts as brave.
Even the most loving, emotionally available adult might feel frustration, anger, helplessness or distress in response to a child’s big feelings. This is how it’s meant to work. 

Their distress (fight/flight) will raise distress in us. The purpose is to move us to protect or support or them, but of course it doesn’t always work this way. When their big feelings recruit ours it can drive us more to fight (anger, blame), or to flee (avoid, ignore, separate them from us) which can steal our capacity to support them. It will happen to all of us from time to time. 

Kids and teens can’t learn to manage big feelings on their own until they’ve done it plenty of times with a calm, loving adult. This is where co-regulation comes in. It helps build the vital neural pathways between big feelings and calm. They can’t build those pathways on their own. 

It’s like driving a car. We can tell them how to drive as much as we like, but ‘talking about’ won’t mean they’re ready to hit the road by themselves. Instead we sit with them in the front seat for hours, driving ‘with’ until they can do it on their own. Feelings are the same. We feel ‘with’, over and over, until they can do it on their own. 

What can help is pausing for a moment to see the behaviour for what it is - a call for support. It’s NOT bad behaviour or bad parenting. It’s not that.

Our own feelings can give us a clue to what our children are feeling. It’s a normal, healthy, adaptive way for them to share an emotional load they weren’t meant to carry on their own. Self-regulation makes space for us to hold those feelings with them until those big feelings ease. 

Self-regulation can happen in micro moments. First, see the feelings or behaviour for what it is - a call for support. Then breathe. This will calm your nervous system, so you can calm theirs. In the same way we will catch their distress, they will also catch ours - but they can also catch our calm. Breathe, validate, and be ‘with’. And you don’t need to do more than that.

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