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

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.

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
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
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

Leave a Reply

Your email address will not be published. Required fields are marked *

Follow Hey Sigmund on Instagram

Physical activity is the natural end to the fight or flight response (which is where the physical feelings of an anxiety attack come from). Walking will help to burn the adrenalin and neurochemicals that have surged the body to prepare it for flight or fight, and which are causing the physical symptoms (racy heart, feeling sick, sweaty, short breaths, dry mouth, trembly or tense in the limbs etc). As well as this, the rhythm of walking will help to calm their anxious amygdala. Brains love rhythm, and walking is a way to give them this. 
⠀⠀
Try to help your young one access their steady breaths while walking, but it is very likely that they will only be able to do this if they’ve practised outside of an anxiety attack. During anxiety, the brain is too busy to try anything unfamiliar. Practising will help to create neural pathways that will make breathing an easier, more accessible response during anxiety. If they aren't able to access strong steady breaths, you might need to do it for them. This will be just as powerful - in the same way they can catch your anxiety, they will also be able to catch your calm. When you are able to assume a strong, calm, steady presence, this will clear the way for your brave ones to do the same.
The more your young one is able to verbalise what their anxiety feels like, the more capacity they will have to identify it, acknowledge it and act more deliberately in response to it. With this level of self-awareness comes an increased ability to manage the feeling when it happens, and less likelihood that the anxiety will hijack their behaviour. 

Now - let’s give their awareness some muscle. If they are experts at what their anxiety feels like, they are also experts at what it takes to be brave. They’ve felt anxiety and they’ve moved through it, maybe not every time - none of us do it every time - maybe not even most times, but enough times to know what it takes and how it feels when they do. Maybe it was that time they walked into school when everything in them was wanting to walk away. Maybe that time they went in for goal, or down the water slide, or did the presentation in front of the class. Maybe that time they spoke their own order at the restaurant, or did the driving test, or told you there would be alcohol at the party. Those times matter, because they show them they can move through anxiety towards brave. They might also taken for granted by your young one, or written off as not counting as brave - but they do count. They count for everything. They are evidence that they can do hard things, even when those things feel bigger than them. 

So let’s expand those times with them and for them. Let’s expand the wisdom that comes with that, and bring their brave into the light as well. ‘What helped you do that?’ ‘What was it like when you did?’ ‘I know everything in you wanted to walk away, but you didn’t. Being brave isn’t about doing things easily. It’s about doing those hard things even when they feel bigger than us. I see you doing that all the time. It doesn’t matter that you don’t do them every time -none of us are brave every time- but you have so much courage in you my love, even when anxiety is making you feel otherwise.’

Let them also know that you feel like this too sometimes. It will help them see that anxiety happens to all of us, and that even though it tells a deficiency story, it is just a story and one they can change the ending of.
During adolescence, our teens are more likely to pay attention to the positives of a situation over the negatives. This can be a great thing. The courage that comes from this will help them try new things, explore their independence, and learn the things they need to learn to be happy, healthy adults. But it can also land them in bucketloads of trouble. 

Here’s the thing. Our teens don’t want to do the wrong thing and they don’t want to go behind our backs, but they also don’t want to be controlled by us, or have any sense that we might be stifling their way towards independence. The cold truth of it all is that if they want something badly enough, and if they feel as though we are intruding or that we are making arbitrary decisions just because we can, or that we don’t get how important something is to them, they have the will, the smarts and the means to do it with or without or approval. 

So what do we do? Of course we don’t want to say ‘yes’ to everything, so our job becomes one of influence over control. To keep them as safe as we can, rather than saying ‘no’ (which they might ignore anyway) we want to engage their prefrontal cortex (thinking brain) so they can be more considered in their decision making. 

Our teens are very capable of making good decisions, but because the rational, logical, thinking prefrontal cortex won’t be fully online until their 20s (closer to 30 in boys), we need to wake it up and bring it to the decision party whenever we can. 

Do this by first softening the landing:
‘I can see how important this is for you. You really want to be with your friends. I absolutely get that.’
Then, gently bring that thinking brain to the table:
‘It sounds as though there’s so much to love in this for you. I don’t want to get in your way but I need to know you’ve thought about the risks and planned for them. What are some things that could go wrong?’
Then, we really make the prefrontal cortex kick up a gear by engaging its problem solving capacities:
‘What’s the plan if that happens.’
Remember, during adolescence we switch from managers to consultants. Assume a leadership presence, but in a way that is warm, loving, and collaborative.♥️
Big feelings and big behaviour are a call for us to come closer. They won’t always feel like that, but they are. Not ‘closer’ in an intrusive ‘I need you to stop this’ way, but closer in a ‘I’ve got you, I can handle all of you’ kind of way - no judgement, no need for you to be different - I’m just going to make space for this feeling to find its way through. 

Our kids and teens are no different to us. When we have feelings that fill us to overloaded, the last thing we need is someone telling us that it’s not the way to behave, or to calm down, or that we’re unbearable when we’re like this. Nup. What we need, and what they need, is a safe place to find our out breath, to let the energy connected to that feeling move through us and out of us so we can rest. 
.
But how? First, don’t take big feelings personally. They aren’t a reflection on you, your parenting, or your child. Big feelings have wisdom contained in them about what’s needed more, or less, or what feels intolerable right now. Sometimes it might be as basic as a sleep or food. Maybe more power, influence, independence, or connection with you. Maybe there’s too much stress and it’s hitting their ceiling and ricocheting off their edges. Like all wisdom, it doesn’t always find a gentle way through. That’s okay, that will come. Our kids can’t learn to manage big feelings, or respect the wisdom embodied in those big feelings if they don’t have experience with big feelings. 
.
We also need to make sure we are responding to them in the moment, not a fear or an inherited ‘should’ of our own. These are the messages we swallowed whole at some point - ‘happy kids should never get sad or angry’, ‘kids should always behave,’ ‘I should be able to protect my kids from feeling bad,’ ‘big feelings are bad feelings’, ‘bad behaviour means bad kids, which means bad parents.’ All these shoulds are feisty show ponies that assume more ‘rightness’ than they deserve. They are usually historic, and when we really examine them, they’re also irrelevant.
.
Finally, try not to let the symptoms of big feelings disrupt the connection. Then, when calm comes, we will have the influence we need for the conversations that matter.
"Be patient. We don’t know what we want to do or who we want to be. That feels really bad sometimes. Just keep reminding us that it’s okay that we don’t have it all figured out yet, and maybe remind yourself sometimes too."
⠀⠀

⠀⠀
 #parentingteens #neurodevelopment #positiveparenting #parenting #neuronurtured #braindevelopment #adolescence  #neurodevelopment #parentingteens

Pin It on Pinterest