Category: Autism 101

Autism and Rejection Sensitive Dysphoria (RSD)

Greetings Earthlings! 🙂

This week I’d like to talk about another co-morbid condition with autism and ADHD– rejection sensitive dysphoria (RSD).

So what exactly is RSD?

RSD is an intense or overwhelming emotional sensitivity to rejection and criticism (both perceived and real). This can cause intense emotional pain that can be difficult to bear.

Looking back over my childhood, I really struggled with RSD. Whilst I am well versed in the art of rejection now that I’m in my thirties, growing up as an undiagnosed autist did not make for an easy ride. Even the slightest rejections could trigger meltdowns as my brain struggled to process the situation. Something as simple as someone not immediately having time for me, a passing comment in a raised tone, even constructive criticism could set me off. Once at a family event in a hotel I had a bad meltdown because my uncle was short with me for requesting a different flavour of ice-cream to the one that I had been given. Cue me hiding out in the toilets followed by 3 hours doodling in the back of the car instead of joining the party from my RSD over-reaction (I was 13 by the way! 🙈). I can’t even blame sensory issues for that over-reaction, I just didn’t feel like eating raspberry ripple that day! 😂

So is there any scientific reason for RSD?

RSD, like maladaptive daydreaming, is not a clinical diagnosis so it’s hard to underpin how it works. There isn’t exactly a scientific way to measure rejection. However, as it has been observed in patients with autism and ADHD, psychologists believe that it is caused by alterations in brain structure in the regions that regulate and process emotions such as the frontal lobe and the amygdala- both regions where structural changes have been linked to autistic symptoms.

As discussed previously, autists often have a warped sense of perception and logic so it can be very easy to misconstrue and over-react to rejection. The tendency towards perfectionism and black and white thinking in particular can make us far more susceptible to such negative reactions. For example, if someone told me that they didn’t like my shoes, even though it’s only one component of my outfit and just a passing comment, my younger self would have spiraled.

Life is often all or nothing for an autist, so if someone rejects one small thing, it may skew our entire perception of ourselves.

You don’t like my shoes = you don’t like me.

The shoes are wrong, I chose the shoes, the shoes are on my body, therefore, I’m wrong. The world is black and white so if I’m wearing the wrong shoes, everything else about me has to be wrong by extension- you’re either wrong or right, you can’t be both.

RSV can be pretty exhausting for an autist, so understanding of our responses to rejection is vital to supporting us. If you’re struggling with RSV, cognitive behavioural therapy (CBT) can help you learn how to better process feelings of rejection, but medication such as ADHD drugs and anti-depressants can be useful for more severe cases.

Hope you enjoyed this post dear earthlings!

Have a lovely weekend! 🙂

Aoife

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Autism and the Immune System

Greetings Earthlings! 🙂

This week I’d like to discuss how the immune system can contribute to autism through inflammation and autoimmune diseases.

Really Aoife? I thought the immune system was supposed to protect me from illness and repair the body after injuries?

Yes- ordinarily the immune system functions to protect and heal us from injury and disease, however, dysfunctions in the immune system can cause serious health issues. There are three main categories of immune dysfunction:

  • Immunodeficiency– where one or more parts of the immune system are inactive
  • Autoimmunity– where an overactive immune system is unable to tell the difference between the cells of the body and foreign invaders like bacteria and viruses. This leads to autoimmune disease (such as rheumatoid arthritis) where the immune system attacks healthy cells causing disease
  • Hypersensitivity– similar to autoimmunity where the immune system triggers an undesirable allergic reaction (like asthma and anaphylaxis) which attacks the cells of the body

So how does the immune system relate to autism?

A number have studies have highlighted that abnormal immune system activation could be playing a role in the development of autism. Inflammation is the body’s natural defense against foreign invaders. When the body is under attack from an infection for example, it starts to release pro-inflammatory chemicals called cytokines which triggers inflammation to start the battle. Once the threat has passed, an anti-inflammatory response begins to cool the body back down. This heating/cooling cycle doesn’t always run smoothly for some people leading to persistent inflammation which over time can cause damage to the body. Studies have shown that autists frequently show signs of widespread inflammation, often having high levels of pro-inflammatory chemicals. Postmortem brain samples in particular have shown evidence of enhanced immune activity suggesting that an overactive immune system may be contributing to the autistic brain.

There are also some studies that suggest autists are producing antibodies that attack their own brains- I know I’m my own worst enemy, but that is next level! 😛

Researchers believe that abnormal immune activity during pregnancy in particular could be a contributory factor in autism. Studies have noted that many women that have an autoimmune disease (such as lupus, psoriasis, diabetes etc.) also have a child with autism leading them to this potential link. It’s thought that pregnant women with autoimmune diseases produce antibodies that attack the baby’s brain as the immune system falsely identifies the baby as a foreign invader which can potentially cause autism and ADHD. Moreover, inflammation during pregnancy is also thought to interfere with the development of folds in the brain.

But is there any explanation as to why immune activity is abnormal in autism?

As with most things linked to autism, it’s likely that this activity has a genetic source. A number of the genes that have been linked to autism are also involved with the immune system, so mutations in these genes could explain the correlation.

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

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Autism & Joint Hypermobility

Greetings Earthlings! 🙂

This week I’d like to discuss another lesser known comorbidity with autism- joint hypermobility.

So what exactly is joint hypermobility?

It’s a pretty self-explanatory condition where joints have a larger range of motion than normal, more commonly referred to as being “double jointed”. The tissue connecting joints is much more stretchy so joints are highly flexible. This is usually caused by weak collagen- the main protein that makes up connective tissues that provide support in the body such as muscles, tendons, ligaments, bone etc.

Lots of people have hypermobile joints, but some may have hypermobility disorders such as Ehlers-Danlos Syndrome (EDS) which negatively effects connective tissues. There are 13 types of EDS, each with different symptoms, but the most common type is hypermobile EDS with symptoms including painful and clicking joints, excessive bruising, digestive issues, unstable joints and thin stretchy skin. 8% of autists are estimated to have EDS, with even more estimated to have other types of hypermobility disorders. As both of these conditions are assessed by different types of doctors, it’s possible the co-occurrence rate is much higher than we realise.

In my own experience, I’ve always known that I was highly flexible, but I’d never considered that this might not be “normal”. My English teacher once looked at me recoiling in horror as I stared back confused and oblivious. Apparently my thumbs were freaking him out as I’m able to bend them backwards- something that I thought everyone was able to do!

Here’s a closer illustration for context:

I haven’t thought much of my joints for years, but recently both my physiotherapist and chiropractor described them as hypermobile. This seemingly has contributed to many injuries over the years- I’m currently dealing with a “wandering kneecap” among other things 😂. Lo and behold, a few weeks later I came across a study linking hypermobility to ASD’s and ADHD!

So how are the conditions linked?

Again, as with most aspects of the spectrum the link remains unclear, however, it does appear to be genetic. Hypermobility disorders are highly hereditary with 20% of mothers experiencing hypermobility reporting that they have an autistic child. A recent study compared the genes known to be related to hypermobility and autism and found that there was a lot of overlap between these genes and the pathways they interact with which likely explains why the two conditions are co-morbid. Immune system dysregulation has also been linked to both conditions, particularly during pregnancy (I will discuss the immune link to autism in more detail in a later post).

So there you have it, lot’s of autists are highly flexible- which is kind of ironic given how inflexible we can be in other areas of our lives 😜🤣

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

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Autism and Lactate/Lactic Acid

Greetings Earthlings! 🙂

This week I’d like to discuss an interesting biomarker that is elevated in people with autism- lactate.

So what exactly is lactate?

Lactate, also known as lactic acid, is a bi-product of normal energy metabolism in the body. You might have heard of it in relation to exercise as lactic acid builds up in the muscles when oxygen is low leading to that burning sensation we sometimes experience. Normally the body produces energy by breaking down glucose in the mitochondria in our cells using oxygen (aerobic respiration), but when oxygen is low, glucose is broken down without oxygen (anaerobic respiration). This happens separately in the cytosol, the liquid inside of cells, where energy is produced along with the waste product lactic acid.

But what does all this have to do with autism?

Mitochondrial dysfunction is thought to be one of the possible causes of autism spectrum disorders as the nervous system is the most commonly impacted system. Recent studies supporting this theory have shown that lactate levels are elevated in autists which are thought to have an influence on behavioural issues. When mitochondria cannot perform efficiently to produce energy in autism, there are two potential alternatives- the cell may compensate using the anaerobic pathway described above, or by using something called the Warburg effect. The Warburg effect describes when energy is produced outside the mitochondria in the cytosol despite the presence of normal oxygen levels where lactate is produced as a bi-product. Research suggests that the canonical WNT/β-catenin pathway, which is involved in the regulation of the enzymes that control metabolism, is abnormally activated in autism leading to energy production via the Warburg effect. Interestingly, lactate is also elevated in lots of other disorders that can be co-morbid with autism such as bipolar disorder, depression, ADHD and gastrointestinal disorders.

Microscope image of Mitochondria

Who knew that the pesky burn you feel during exercise could have such an influence on our brain chemistry!

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

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Autism and Seasonal Affective Disorder (SAD)

Greetings Earthlings! 🙂

Leading on from my previous post about autism and mental health, this week I’d like to discuss the issue of Seasonal Affective Disorder (SAD) for autists.

Thankfully, I have never had any issues with SAD personally, however many other autists struggle.

So what exactly is SAD?

SAD, also known as ‘Seasonal’ or ‘Winter’ depression, is a form of depression that is triggered by seasonal changes. Onset is usually triggered in the autumn/winter months, however, it has also been known to occur during the brighter months in rarer cases. Depressive symptoms tend to start out mild and progressively worsen as the days get shorter, beginning to level out and disappear with the return of the spring/summer season. The symptoms are similar to clinical depression, the primary difference being the seasonal nature. For autists who experience SAD, the condition can be compounded by communication difficulties and other co-morbid mental health issues.

But is there a scientific link with autism?

While there is no official link to autism, many autists report issues with SAD. Melatonin, the hormone that regulates sleep, is generally thought to be the main driver of SAD. The release of melatonin is mediated by exposure to light, so lack of sunlight during the winter months can cause the body to produce more melatonin than is needed, causing you to feel sleepy and sluggish. Light therapy is currently the recommended treatment for SAD to better manage melatonin levels. Interestingly, melatonin levels are dysregulated in autists which could explain why they may be more likely to be impacted by seasonal changes in melatonin levels.

Other studies have linked SAD to serotonin as there can be seasonal variations in serotonin levels. In addition, serotonin is at the heart of the chemical imbalance theory of depression and levels are often dysregulated in autists, which could explain why there might be a link. Buuuutttt a lot of these research papers come from the 1990s. In recent years, the chemical imbalance theory of depression has been disproved, which could also negate this theory for SAD.

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

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Autism and Abuse

Greetings Earthlings! 🙂

Leading on from previous post about bullying and autism, this week I’d like to explore the issue of autism and abuse.

Current research suggests that children with autism may be up to three times as likely to be the target of physical, emotional or sexual abuse than their neurotypical peers. Autistic women are particularly vulnerable as a recent French study estimates that as many as 9 out of 10 autistic women have experienced sexual violence and a further 60% physical violence.

But why are autists more likely to be victims of abuse?

Sadly, the nail that sticks out is the one that gets hammered down. Experts have suggested that stigma is one of the main reasons that autists are such prime targets as we are often stigmatised by negative perceptions of autism due to a lack of education about the condition. As such, autists may be abused for falling short of societal expectations in many aspects of their lives.

In addition, abuse can often go undetected as autists don’t always know how to communicate what’s going on and don’t always understand what constitutes “normal” social behaviours. When you don’t always know what’s “normal”, abusive behaviours can easily become accepted and normalised. Moreover, many of the classic childhood behavioural signs of trauma and PTSD resemble common symptoms of autism, making it even harder to pinpoint if something is wrong.

On the other hand, some studies have also controversially suggested that autists may also be more likely to be offenders as well as the victims of abuse. Unfiltered speech, lashing out verbally or physically during meltdowns, acting on impulse, lack of understanding about romantic behaviours could all lead to inadvertently abusive behaviour.

In my own experience, I once found myself accidentally branded a bully one day in school. A younger student tearfully came into our classroom and fingered me for shoving her into the side of the shed at lunchtime during a game- something that I had absolutely no recollection of (which is saying something as I have a very good memory). I must have accidentally hit into her during the game we were playing, as my spatial awareness is terrible, and never thought anything else of it. Since my diagnosis, I’ve often looked back on my life and wondered would others have considered my behaviours bullying at times? To me, the thought of ever putting anyone through the kind of bullying I endured is sickening, but that’s not to say that some of my unfiltered moments did not cause offence.

So how can we support autists in abusive situations?

This is where things get tricky. Recent reports from the UK claim that there is a serious lack of appropriate services to help autists who may be victims of abuse. Most professionals from psychologists to police do not receive adequate training in how to deal with an autists unique perception of the world. Autists have different sensory needs, different ways of communicating, or may even require you to speak in a different way, so experts need to be flexible.

Based on this, it seems clear that proper education is paramount at all levels. Experts need to be properly educated on how to specifically help autists through their experiences of abuse, taking our neurodiversity into account. Moreover, as prevention is better than cure, we need to properly educate autists about abuse and the different ways it can manifest. This is particularly important when it comes to sexual abuse. There is oftentimes an assumption of asexuality when it comes to autists, but the vast majority of us have normal romantic and sexual desires. As such, there may be a lack of education surrounding this topic which can lead to abuse. Experts say that autistic girls tend to learn about relationships from books and rom coms, whereas autistic boys tend to learn from porn- neither “source” giving true insight into how relationships work in the real world. Proper education surrounding romantic and sexual behaviours is warranted to both guard against vulnerability to abuse and the likelihood of committing an offence.

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

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Autism and Auditory Processing Disorder (APD)

Greetings Earthlings! 🙂

Leading on from my previous post about autism and sound sensitivity, this week I’d like to take a look at auditory processing disorder or APD.

So what exactly is APD?

APD, also known as central auditory processing disorder (CAPD), is a condition where a person doesn’t fully process the sounds they are hearing. There is generally nothing wrong with your hearing ability, but a neurological issue in interpreting the meaning of that sound. People with APD often struggle to understand spoken instructions, sentences where they’ve missed words, thick accents, words that sound similar, and understanding conversations that place in noisy environments. For example, if someone said the word ‘dog’, you would hear the word perfectly, but might struggle to retrieve the meaning of the word.

So how is APD linked to autism?

APD’s are very common in autists, but the link is unclear. One of the leading theories however is that the hippocampus is immature and underdeveloped in the autistic brain. This part of the brain is responsible for processing auditory and other sensory information, so if the region is not properly developed, autists will struggle to process sensory input like sound. Other research suggests that autists are hearing and processing sound properly, however, they are processing this information at a slower level than their peers due to delayed development of the auditory cortex in the brain.

An interesting behavioural study proposed that autists are actually processing sounds correctly, however, they are choosing to not pay attention to certain sounds or speech due to variations in their attention span.

Some researchers have also linked difficulties in auditory processing to impairment and delays in language development in autism as the ability to process sound efficiently is critical to language formation.

To help autists struggling with APD to better process sound, it’s recommended that you:

  • Try to talk face to face
  • Avoid covering your face when speaking
  • Repeat or rephrase words if they are struggling
  • Reduce background noise in the environment
  • Avoid long and complicated sentences
  • Try not to speak too fast or too slow
  • Use pictures and text for younger autists

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

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Autism and Gene Mutation

Greetings Earthlings! 🙂

This week I’d like to discuss the influence of gene mutations in the development of autism.

So what exactly are gene mutations?

Gene mutations occur when the usual, expected gene structure changes to form a new gene variant that can be passed on to future generations. Mutations may include deletions (where part of the gene sequence is removed), insertions (where new information is added to the gene sequence), and rearrangements (where the gene sequence is reordered).

Autism is heavily influenced by our genes, with estimates suggesting that genetic factors contribute to as much as 40-80% of the risk of developing an ASD. Mutations in over 1000 genes have been linked to autism, but as of yet no single “autism gene” has been identified. To date, only 30% of autism cases can be explained by known gene mutations. Research has thus far explored a mere 2% of the genome for candidate genes, so there may yet be a common gene somewhere in the remaining 98%. The current thinking is that multiple small gene mutations interact to cause autism.

The following are some examples of candidate genes that have been linked to autism development:

  • ACTL6B– this gene is involved in the expression and control of many other genes in brain cells, where mutations to ACTL6B can alter these other genes to trigger autistic traits
  • Shank 3- is a leading autism candidate gene where mutations in this gene are found in 1-2% of autists. This gene expresses a protein that is essential to the proper functioning of the synapse (the junction) between neurons- a region where many autistic traits are linked to
  • PAX5- this gene encodes a factor that is important to the development of the brain during the embryonic phase of pregnancy, where mutations in the gene can lead to alterations in the brain that can contribute to neurodevelopmental disorders like autism

As interesting as genetic mutation is, it is largely considered to be a negative thing. Gene mutations are viewed as aberrant, something that many would seek to edit or correct- the entire premise of gene therapy. But while most are familiar with the concept of negative gene mutations, there are many gene mutations out there that are neutral or beneficial. For example, some people have a rare gene mutation called CCR5-delta 32 that makes you resistant to HIV infection, carriers for the gene mutation that causes sickle cell disease are resistant to malaria, and even rare mutations in the LRP5 gene can increase bone density to make your bones more resistant to breakage and age related degeneration.

In my own experience, I have a rare gene mutation that causes sectoral heterochromia- i.e. a section of my right eye is a different colour to my left eye. This mutation occurs in less than 1% of the population- made even rarer by the fact that my eyes are green (only 2% of people have green eyes). This is a neutral mutation- it’s a mutation, but not one that has any impact other than my friends find it really cool 😎

Genetic mutation is central to evolution, it’s how we grow and adapt; without it the human race would not exist. With this in mind, perhaps we need to refocus our perception of autism. We see autism genes as aberrant, but don’t consider the possibility that some of these mutations may be positive. Mutations that allow us to see the world differently, can make us think faster, have increased memory retention, give us unique creative and academic abilities etc. Perhaps a meltdown isn’t the product of a gene gone bad, but an evolved method of emotional processing (there really is great relief after a good meltdown cry- even if it isn’t the most fun in the middle of it all 😛 ).

Maybe the genes aren’t aberrant, perhaps it’s just our perception of them that we need to change.

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend!

Aoife

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Autism and Dyscalculia

Greetings Earthlings! 🙂

Leading on from my previous post on dyslexia, this week I’d like to discuss another lesser known learning disability that can be co-morbid with autism- dyscalculia.

So what exactly is dyscalculia?

Dyscalculia is a specific type of learning disability characterized by a difficulty with numbers and arithmetic i.e, understanding how to do maths and manipulate numbers (that’s right- not all autists are good with numbers Hollywood 😛 ) . There are varying levels of dyscalculia but signs may include difficulties with numbers and mathematical symbols, pattern recognition, sequence issues, handling money, managing and telling time, visual processing, and memory issues.

So what causes dyscalculia?

Again as with most aspects of the spectrum, the exact mechanism is unclear. Thought to be related to ADHD, dyslexia and dyspraxia, dyscalculia seems to result from dysfunction in the intraparietal sulcus (an area thought to be involved in processing symbolic and numerical information) and the frontal lobe of the brain. The frontal lobe in particular contains most of the dopamine neurons of the brain which are involved in attention, planning and short term memory- all of which are important functions in comprehending numbers. As discussed in many previous posts, dopamine levels are dysregulated in the autistic brain which could explain why autists may be more prone to these types of learning disabilities.

Is there anything that can be done to help manage it?

As with most disabilities, early detection and intervention are key to helping those with dyscalculia cope with their struggles. There have been very few targeted programs specific to dyscalculia but in recent years a number of digital programs have been created to help improve basic numerical abilities. The gold standard one to one tutoring is also a useful option to help improve these skills through repetition and targeting areas of particular difficulty. Interestingly, there was a study conducted in 2014 where electrical stimulation of the left side of the posterior parietal lobe of the brain (an area involved in spatial reasoning and planned movements) improved numerical abilities in patients. As many as 43% of autists may have abnormalities in their parietal lobe, so further research into this region could provide us with new ways to manage dyscalculia in the future.

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

1

Autism and Irlen Syndrome

Greetings Earthlings! 🙂

This week I’d like to talk about a condition that impacts approximately half of autists- Irlen syndrome.

So what exactly is Irlen syndrome?

First defined in the 1980’s, Irlen syndrome (also known as scotopic sensitivity syndrome (SSS) or Meares–Irlen syndrome) is described as a difficulty in the brain’s ability to process images/visual information. It is not exclusive to autists as it also impacts roughly 15% of the neurotypical population. As 70% of the information we process is visual, the inability to process this information can have a serious knock on effect on our brains ability to function effectively, causing issues with reading, coordination, sensory processing, spatial awareness, and ADHD– all co-morbid issues associated with autism.

But what causes it?

Irlen syndrome is caused by hypersensitivity to certain wave lengths of light which can cause the brain to process visual information incorrectly. The exact mechanism is poorly understood, but the brain seemingly becomes overactive in response to light causing dysfunction. Interestingly, Irlen syndrome is classified as a pseudo-medical diagnosis as there is skepticism over it’s existence as a stand alone condition with a distinct pathology. Experts are skeptical of Irlen syndrome as there is a lot of overlap in symptoms from other conditions and they may be lumped in under one convenient heading.

But is there anything we can do to manage symptoms?

The Irlen method is the main treatment approach for the condition. Pioneered by Helen Irlen, the Irlen method is a non-invasive approach using coloured lenses to filter light and to improve the brains ability to process visual information. The lenses can be either worn as glasses or in contact form.

You can see the impact that Irlen lenses have on the brain here:

However, the efficacy of this method has been difficult to prove. In particular there seems to be little evidence to support their use to improve reading issues and dyslexia. That being said, many people have found great relief from using Irlen lenses, such as actor Paddy Considine who has both Asperger’s syndrome and Irlen syndrome.

As with all pseudoscience/pseudomedicine, take everything with a pinch of salt, but if you think Irlen lenses may help your issues with light sensitivity it’s worth a try!

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

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