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

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

Autism and Dyslexia

Greetings Earthlings! 🙂

This week I’d like to take a look at another neurological condition that can be co-morbid with autism- dyslexia.

First things first, what is dyslexia?

Dyslexia can be described as a specific type of learning disability that impacts a persons reading, writing and spelling abilities. Impacting approximately 10% of the population, dyslexia ranges from mild to severe characterized by cognitive difficulties with processing phonetics, working memory and speed of long term memory retrieval. Like autism, the exact neurological causes and mechanisms are unclear, but as dyslexia can run in families, genetic factors are largely thought to contribute.

So how is it linked to autism?

The link between autism and dyslexia has not been scientifically established, but there are some commonalities. Interestingly, dyslexia overlaps with many autistic co-morbidities such as ADHD, dysgraphia, dyspraxia (an estimated 52-53% of dyslexics are also dyspraxic), and auditory processing disorders, which would suggest that these conditions likely operate through similar neurological mechanisms and pathways.

Scientists have found it difficult to establish a direct genetic link between the two conditions, however, recent research may implicate gene deletions in CNTNAP5 (a gene involved in connecting neurons)  and DOCK4 (a gene that regulates junctions between cells) in both dyslexia and autism. In addition to this, a 2015 study found that declarative memory (the type of memory that can be “declared” like names, facts, figures etc.) can be used to develop coping mechanisms for both autism and dyslexia, suggesting that perhaps there may be overlap in the brain regions associated with this type of memory formation. Other studies exploring the neural mechanisms of dyslexia indicate structural changes in such regions as the frontal lobe (memory and problem solving), cerebellum (the motor centre) and corpus callosum (the bundle of nerves that splits and connects the left and right hemispheres of the brain)- all areas that have also shown structural changes in studies of the autistic brain.

Most recently, a 2021 study exploring the co-occurrence of dyslexia and other neurodevelopmental disorders reported that many dyslexic patients in their dataset also had issues with sensory processing and other ASD traits, but concluded that the links between the two conditions are complex and hard to underpin, especially given that some autists are hyperlexic (guilty!) rather than dyslexic.

Whilst there is no definitive scientific link, the overlap cannot be denied.

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

Autism and Brain Zaps

Greetings Earthlings! 🙂

Leading on from my previous post about autism and anxiety, this week I’d like to talk about the phenomenon of brain zaps which autists may experience.

So what exactly are brain zaps?

Brain zaps (also know as brain shakes/shocks/shivers/flips) are a poorly understood phenomenon where it feels as though the brain is undergoing an electrical shock or a shaking/shivering/vibrating sensation. I personally have experienced these from time to time as a vibrating sensation in my brain, where it feels like your brain is literally shaking in your skull. Others report that it feels like a zap has gone off in their head and they can hear a hissing or a ringing sound in their ears. In some cases people experience bursts of light and can feel faint and disorientated afterwards. They are not harmful to the brain but they can be distracting and uncomfortable, especially for autists who are already sensitive to sensory stimuli.

So what causes them?

Like many neurological sensations, they are somewhat of a mystery, but they generally tend to occur in response to withdrawal or missed doses of certain drugs such as anti-depressants, ecstasy and MDMA, and medications for anxiety and ADHD – many of which are prescribed for co-morbid mental health conditions in autists. As these drugs alter levels of key calming inhibitory neurotransmitters such as serotonin and GABA (levels which are naturally dysregulated in the autistic brain), it is thought that low levels of these neurotransmitters may cause over-excitement in the brain, leading to abnormal firing between the neurons causing localized minor seizures i.e. brain zaps.

Don’t be alarmed by the term seizure here- this theory has not yet been confirmed and there is no evidence that brain zaps have a negative impact on our health.

On the other hand, brain zaps can also occur in response to high stress and anxiety. When you experience chronic stress, the brain is hyperstimulated as your worries swirl round and around in your restless mind. Completely overworked and overexcited from stress, your neurotransmitter levels fluctuate causing lower levels of calming GABA and higher levels of glutamate- the primary excitatory neurotransmitter. Such changes may over-excite the brain resulting in a localised seizure/brain zap as described above. Autists may be particularly susceptible to brain zaps in this manner as we experience higher levels of biological stress than our neurotypical peers, not to mention that our neurons are naturally hyper-connected, our neurotransmitters dysregulated and our brains hyperstimulated as a result.

Interestingly, a recent study has suggested that lateral eye movement may be a triggering factor for brain zaps. This is particularly intriguing for autists as evidence suggests that we process most visual information in our periphery, so our natural inclination to avoid direct eye contact could trigger brain zaps.

There are no treatments for brain zaps, but while they may not be the most pleasant sensation, they are generally nothing to be worried about and can be mitigated with proper management of stress and your prescribed medications.

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

Autism and Cholesterol

Greetings Earthlings! 🙂

Following on from my recent post about diet and autism, this week I’d like to discuss a biomolecule that is not often talked about in the literature about autism- cholesterol.

When it comes to cholesterol, we usually think of it as a bad thing- that fatty yellow stuff that clogs up our arteries when we eat too much of the wrong foods. But there is so much more to cholesterol than most people realize. Cholesterol is an essential biomolecule involved in the synthesis of numerous other bodily substances such as steroid hormones, vitamin D and bile. It’s also an essential component of our cell membranes.

There are 2 types of cholesterol- LDL and HDL. LDL (low-density lipoprotein) makes up most of the cholesterol in the body. This is often referred to as the bad type of cholesterol as a build up of this can clog the arteries. HDL (high-density lipoprotein) on the other hand, is considered the good kind of cholesterol as it absorbs waste cholesterol and shuttles it to the liver for removal from the body.

So what has cholesterol got to do with autism?

Here’s where things get interesting. Cholesterol is involved in modulating the oxytocin receptor and the serotonin 1-A receptor- neurotransmitters that are dysregulated in the autistic brain which contribute to a number of autistic symptoms. Multiple studies have reported that some autists have hypocholesterolemia (i.e low cholesterol levels). Cholesterol deficits could interfere with the functioning of the oxytocin and serotonin receptors and contribute to autistic symptoms. Recent research has identified mutations in a cluster of genes involved in cholesterol metabolism in certain forms of autism which likely causes these lowered cholesterol levels. Cholesterol and omega fish oil supplementation may be useful to help counter the impact of low cholesterol on the brain.

Cholesterol Fat The Structural - Free image on Pixabay

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

Autism and MDMA/Ecstasy

Greetings Earthlings! 🙂

Leading on from my previous post about autism and CBD, this week I’d like to explore another drug that is being researched in the treatment of autism- MDMA, the active ingredient in Ecstasy.

Yes, you’ve heard me correctly, the psychoactive drug MDMA is indeed being explored as a treatment option for autists!

So how can a recreational party drug help people with autism?

First synthesized for use in psychotherapy by Merck in the 1910’s, MDMA is the active ingredient in the street drug ecstasy and is thought to improve anxiety, sensory perception and sociability in those who take it. Many autists who have taken the drug recreationally have reported feeling more at ease in their body and increased empathy.

So how does the drug work?

MDMA increases release of neurotransmitters such as serotonin, noradrenaline and dopamine in the brain- neurotransmitters that are dysregulated in the autistic brain. In addition, MDMA is also thought to boost the hormones oxytocin and vasopressin the body which are also implicated in autistic symptoms. These hormones and neurotransmitters are heavily involved in anxiety and social behaviours, so targeting these makes pharmacological sense for autists.

That’s fine in theory, but does it work?

A pilot study (a small scale preliminary study) was conducted in 2016 to compare the impact of MDMA assisted psychotherapy on anxiety levels in autists versus psychotherapy alone. The study found that social anxiety significantly reduced in the group that received MDMA, a positive change that occurred rapidly and show signs of long term duration. This was however only a small pilot study and studies are ongoing with larger cohorts.

The drug does not currently have any legally approved medical uses, but if these clinical trials prove successful, this may change in the coming years.

In case you’re getting worried, the street drug itself is not being explored- ecstasy does not contain enough MDMA for therapeutic benefit, and it is often combined with other substances such as methamphetamine which make long-term use highly addictive and damaging to overall health. However, long-term use of MDMA does hold similar safety caveats such as sleep disturbances, depression, heart disease, decreased cognitive functioning and concentration so further research is required.

Nearly half of people who regularly consume ecstasy have tested their drugs

Hope you enjoyed this post dear Earthlings! 😀

Have a lovely weekend!

Aoife

Autism and Epilepsy

Greetings Earthlings! 🙂

Following on from last weeks post about CBD/medical marijuana and autism, this week I’d like to take a closer look at epilepsy, a neurological condition that is often co-morbid with autism. In fact, some reports suggest that as many as half of people with autism also suffer with some form of epilepsy! 😲

So what exactly is epilepsy?

Epilepsy is a neurological condition caused by abnormal electrical activity along the neurons in the cortex of the brain. In the brain, neurons are usually activated in order along the nerve as messages travel from one point to another- in other words, only one nerve cell at a time is activated. Think of nerve cells like a chain of people passing a note along- only one person will hold the note at a given time. During an epileptic seizure however, the nerves fire excessively and abnormally all at the same time. The exact mechanism is unclear, but evidence suggests that changes in the membrane of nerve cells or dysfunction in inhibitory brain cells may cause symptoms.

Here’s a handy video from ‘The Doctors‘ that talks through some of the common types of seizures:

But how is it linked with autism?

Researchers are unclear as of yet if epilepsy is a consequence of autism or a contributory factor in developing it, however, both autism and epilepsy share common genetic roots. Some studies have found that there is a lot of overlap between the genes implicated in both conditions, where mutations in these genes (such as SCN2A and HNRNPU genes) give rise to symptoms.

The main theory behind their overlap is that they stem from similar biological mechanisms wherein both conditions are caused by alterations and imbalances in excitation and inhibition of nerve activity in the brain.

If you want to do some more reading about how epilepsy manifests in autism and how to manage it, here’s a useful link: https://www.epilepsy.ie/content/epilepsy-and-autism

873 Epilepsy Illustrations, Royalty-Free Vector Graphics & Clip Art - iStock

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend,

Aoife

Autism and Echopraxia

Greetings Earthlings! 🙂

Leading on from my previous post on echolalia, this week I’d like to briefly discuss the phenomenon echopraxia.

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Yes I know, it’s another mouthful, but what exactly is echopraxia?

Echopraxia (also known as echomotism or echokinesis) is a type of tic disorder characterized by involuntary imitation of another persons actions e.g. waving a hand, touching your nose, kicking something, even facial expressions. Echopraxia is one of the core features of Tourette’s syndrome, however it has also been found to occur in ASD’s. It is often paired with echolalia, but it has been known to occur independently in autists.

I know what you’re thinking- imitation of actions is critical to early development in childhood and perfectly “normal” behaviour, so it seems like echopraxia might be reading into things too much. However, when this behaviour persists and becomes reactionary rather than a learning tool, then it can be viewed from a pathophysiological  perspective. As such, it can be very difficult to diagnose this behaviour in children. 

So what does the science have to say about echopraxia and autism?

There’s very limited research in this area, however experts believe that echopraxia is related to damage or dysfunction within the frontal lobe known as the action cortex of the brain- an area that is often implicated in autistic behaviours. Other’s have theorized that abnormalities in the mirror neurons located here may be responsible.

Nope, I’m afraid mirror neurons are not quite this exiting- mirror neurons are in fact a particular type of nerve cell that fires when a person or an animal acts and witnesses another person complete the same action. This type of behaviour has been particularly observed in primates, giving new meaning to the phrase ‘monkey see, monkey do’.

echopraxia

In general, echopraxia is considered harmless, however if it starts to interfere with social functioning, then behavioural modifications, medications and psychotherapy are possible treatment options 🙂

Hope you enjoyed this post dear Earthlings! 😀

Have a lovely weekend!

Aoife

 

Autism and Gait

Greetings Earthlings! 😀

This week I’d like to discuss another lesser known aspect of the spectrum- autism and gait.

As I’ve discussed previously, coordination issues are part and parcel with autism, however, what you may not know is that these coordination issues tie in with an autists gait- particularly for those with Asperger’s syndrome. In fact one of the lesser known diagnostic criteria in the DSM-V is that of an odd or unusual gait.

New technologies are even using gait analysis as an early means of detecting autism:

I know it seems an unusual trait, (let’s face it, we rarely notice a person’s walk) but researchers have observed that autists can have greater or even reduced step and stride length, increased step width, have unusual posturing, tend to walk on their toes, and are lacking in “motor smoothness” when compared with their neurotypical peers.

So why is an autists gait so unusual? What does the science have to say?

Thus far only a few studies have investigated the underpinnings of gait and autism (although the association has been known for decades), but as usual, the evidence points back to the brain. There has been a lot of debate as to which region is responsible for gait differences, however there is evidence to suggest that neurological alterations in the cerebellum (regulates motor movement) and the basal ganglia (a group of nerves involved in voluntary control of motor movements) in autists are the likely culprits.

Furthermore, those autists who tend to toe walk can develop a leg length discrepancy which can also contribute to their odd gait. Gait issues such as this can have a negative impact on the body as this can shorten your Achilles tendon.  Research shows that children with ASD’s tend to have a reduced range of motion in the knee and ankle when walking which may imply weakness around these joints.

It’s not all bad news however, as special orthotics can be used to help improve some of these issues.

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Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

Autism and Alexithymia

Greetings Earthlings! 🙂

Today I’d like to briefly elaborate on something that I’ve touched on in previous posts– autism and alexithymia.

So what exactly is alexithymia?

alexithymia

Alexithymia is a personality trait wherein an autist may struggle to identify and describe emotions in themselves and in others. We feel emotions just like everyone else, we just aren’t always aware of what it is we are feeling. It can be incredibly frustrating (ironically I’ve often struggled to identify this emotion in the past 😛 ) knowing that you feel something but not having a clue how to verbalize it or process it properly. I’ve honestly spent days going “The thing is…it’s just…um..I dunno!” round and round my mind until I can figure out what it is I’m feeling!

heartclutch

Thankfully as I’ve gotten older this happens less and less frequently.

Aoife’s Top Tip: as I’ve discussed previously, music can be quite beneficial when dealing with alexithymia. If I can’t identify an emotion, I tend to gravitate towards songs that sound like what I’m feeling or a particular lyric that resonates with my experience which can help get you past a rough patch 🙂

As many as 85% of autists may have varying degrees of alexithymia, but is there a scientific explanation for it?

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The science remains unclear, however some neurological studies may provide us with some clues.

Early studies proposed that there is a breakdown in communication along the corpus callosum between the emotional right and the logical left hemispheres of the brain when emotional information is transferred to the language regions of the brain. In one third of autists, the corpus callosum (a thick bundle of nerves which connect the hemispheres) is either partially or completely missing which could explain the struggles to identify emotions. Another study suggests that dysfunction in the anterior cingulate cortex of the brain may contribute to alexithymia, an area of the brain associated with empathy that appears to be weakly activated in social situations in autists.

So try not to judge us too harshly when we struggle to show empathy 🙂

Hope you enjoyed this post dear Earthlings!

Enjoy the weekend! 🙂

Aoife

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