Autism and Gene Mutation

Greetings Earthlings! πŸ™‚

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 πŸ˜› ).

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 Dyslexia

Greetings Earthlings! πŸ™‚

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! πŸ™‚

Have a lovely weekend!

Aoife

Autism and Brain Zaps

Greetings Earthlings! πŸ™‚

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! πŸ™‚

Have a lovely weekend!

Aoife

Autism and Addiction

Greetings Earthlings! πŸ™‚

This week I’d like to discuss another comorbidity that is being increasingly associated with autism- addiction issues and substance abuse disorders.

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In recent years, researchers have estimated that autists may be twice as likely to suffer from addiction to drugs or alcohol than their neurotypical peers, with even higher rates in those who also suffer from ADHD. Interestingly, researchers held the belief for years that addiction was rare among autists due to our stern rigidity in following the rules and our difficulties with social interaction isolating us from potential peer pressure (but there was no real evidence to back up this view). As increasing numbers of adults are being diagnosed with autism every year, the data pool of autistic addicts could be much higher than we realize.

Addiction issues are not purely related to substance abuse for autists. Autists can suffer from a number of behavioral addictions such as gambling or shopping- there are even studies focusing on the impact of internet and video game addiction in the autistic community (may have been guilty of those at different times in my lifeπŸ˜‚).

So is there any scientific reason that autists are more prone to addiction issues?

There are very few studies that have explored the prevalence of addiction among autists so there is limited data available. However, there are several theories. One theory suggests that motor circuits in the brain play an important role in modifying our behaviours, so if there are issues in the motor system of the brain (as there are in autism), this may have a knock effect on our tendency towards addictive behaviours. Autists also have a tendency towards impulsivity, compulsivity and repetitive behaviours, which research suggests may predispose us to addiction as addictive behaviours are linked to the same brain regions involved in these types of behaviours. The link between these behaviours may even be genetic, as some studies indicate that candidate genes that are thought to cause autism, such as NLGN3 and CNTNAP4, are highly active in brain regions that are associated with addictive behaviours such as the striatum and the nucleus accumbens.

If you are having issues with addiction, you can find information about supports for autists at the following link: https://www.autism.org.uk/advice-and-guidance/topics/mental-health/addiction/autistic-adultsΒ 

Hope you enjoyed this post dear Earthlings! πŸ™‚

Have a lovely weekend!

Aoife

Autism and MDMA/Ecstasy

Greetings Earthlings! πŸ™‚

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! πŸ˜€

Have a lovely weekend!

Aoife

Autism and Gait

Greetings Earthlings! πŸ˜€

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.Β  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! πŸ™‚

Have a lovely weekend!

Aoife

Autism and Clothing

Greetings Earthlings! πŸ™‚

This week I’d like to briefly expand on something that I touched on in my previous post about skin sensitivity,Β -the importance of clothing and autism.

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No, I’m not going to talk about fashion, but function!

For many autists, it can be quite difficult to pick out clothes. A stray fiber, an itchy label or a prickly seam can unleash a storm of sensory discomfort. Gene mutations cause the nerves in our skin to be extra sensitive to certain stimuli. This coupled with hyperactivity in the cortex and the amygdala (both regions involved in sensory processing) don’t make for the happiest of bedfellows.

But what if the clothes that irritate us could in fact be used to manage autistic symptoms?

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Clothes are now being designed and adapted to cater for the different needs of autists. Companies are now producingΒ  seamless socks and underwear, looser fitting clothes made from softer materials, and most interestingly, weighted and compression clothing.

Based on the research of the great Temple Grandin and her hugging machine, both weighted and compression clothing provide calming, deep pressure stimulation much like a soothing hug. The pressure switches off the sympathetic nervous system (fight or flight) to the parasympathetic nervous system (rest and digest), promoting the release of “feel good” neurotransmitters. Based on this, it’s thought that autists are better able to cope with sensory issues, hyperactivity, motor skills and sleeplessness when wearing sensory clothing.

It’s a really interesting premise- there’s even been an inflatable sensory scarf produced that’s designed to provide soothing pressure in addition to emitting calming aromas! Check it out:

https://www.wired.com/2015/08/odd-looking-clothing-designed-help-autistic-kids/

In reality however, the results are mixed. Scientific studies indicate that weighted and inflatable vests do not appear to be effective and are not clinically recommended, yet the personal testimonials of families across the globe beg to differ. One testimonial claimed that a child’s meltdowns went from 12 a day to having none in 3 years!

Either way, nothing ventured nothing gained, so if you think that sensory wear may be of benefit to you or a loved one with autism, why not give it a shot? πŸ™‚

With the variety of sensory wear available, you’ll at the very least look fabulous! πŸ˜‰

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Enjoy the weekend everyone! πŸ˜€

Aoife

Autism and Alexithymia

Greetings Earthlings! πŸ™‚

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 πŸ˜› ) 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!

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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 πŸ™‚

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 πŸ™‚

Hope you enjoyed this post dear Earthlings!

Enjoy the weekend! πŸ™‚

Aoife

Autism and Mental Health

Greetings Earthlings! πŸ™‚

Did you know– autistic children have higher levels of depressive symptoms and are 28 times more likely to have thoughts of suicide than their neurotypical counterparts? 😲

bitmoji1256098968In recent years our awareness of and willingness to tackle mental health issues has increased significantly, however, the autistic community is often forgotten in our discussions.

Mental health issues such as OCD, anxiety, depression, eating disorders, ADD, psychosis, personality disorders and bipolar disorder are frequently co-morbid with ASD diagnoses, but aside from OCD and anxiety, you will rarely hear about these other issues in relation to autism. In fact, such mental health issues can even obscure ASD diagnoses in higher functioning autists as clinicians often diagnose the co-morbid condition without seeing the underlying ASD.

This is a particularly big issue for women on the spectrum as experts have found that we tend to exhibit greater depressive symptoms and higher anxiety levels than our male counterparts as we tend to internalize and ‘mask‘ our struggles. Moreover due to differences between male and female presentation of ASD’s and male bias in the development of the diagnostic criteria, women with autism are often misdiagnosed as having mental health issues, but the root ASD continues to evade.

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But are there any scientific reasons why mental health issues are so prevalent among autists?

A recently published study has suggested that perhaps the gut may influence an autists mental health. As gastrointestinal issues are often co-morbid with an ASD diagnosis, and as the microbes that live in the gut can have an influence on the brain and behaviours, it has been proposed that perhaps a “dysbiosis” or imbalance in gut microbes may have an influence on an autists mental health 😲

Interestingly studies have also identified an overlap between the genes that cause schizophrenia, bipolar disorder and autism wherein certain points on these genes encode proteins that are involved in the formation and strength ofΒ synapses (which act as chemical bridges between neurons) suggesting that these disorders may act through a similar neurological pathway. Moreover, dysregulation of neurotransmitters (biochemical messengers in the brain) has also been implicated in depression, anxiety, bipolar disorder, ADHD and autism (as we have discussed in multiple previous posts) indicating further neurological overlaps.

In short, it seems that the biological basis of both autism and mental health issues are intertwined, which could explain why so often the two walk hand in hand.

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Hope you enjoyed this post dear Earthlings! πŸ™‚

Until next time!

Aoife

 

 

Autism- Atypical Language Use

Greetings Earthlings! πŸ™‚

This week I’d just like to briefly talk about the use of atypical or unusual language in autism.

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Now you may have noticed in previous blogs that I don’t always use the most simplistic of language to express myself- I have always been fond of big words, and have a tendency to regurgitate these randomly in casual conversation.

One infamous incident was the time that I told my Maths teacher that I intended to drop to ordinary level Maths after I had been “ruminating” on it for the previous few days- my family have never let that one go! πŸ˜› πŸ˜‚Β Similarly, my supervisor nearly shot me for including the word “multitudinous” in my first publication! Needless to say it was pulled during edits πŸ˜›

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I was most interested to learn after my diagnosis that my verbosity (couldn’t help myself choosing this word! πŸ˜‚)Β Β is not uncommon among autists, particularly among those with Asperger’s syndrome. In fact the tendency to use more formalized language was first observed during Kanner’s original observations of autism back in the 1940’s and is included on the common list of diagnostic criteria.

So is there a scientific explanation as to why many autists tend towards atypical language?

Studies of individuals with damage to the right hemisphere of the brain have been known to have a proclivity for verbose language. Moreover, brain imaging studies of autists have shown that there is a tendency towards “rightward asymmetry” (a tendency for certain brain functions to be more specialized in the right side of the brain) in language areas versus their neurotypical peers. Taken together, alterations to the right hemisphere of the brain may explain why some autists prefer a more formalized use of language when communicating.

Alternatively you could just enjoy using big words as I do- like I always say, why use a smaller word when there are so many glorious synonyms floating around in the back of my brain!Β  πŸ˜› πŸ˜‰

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Hope you enjoyed this post dear Earthlings! πŸ™‚

Until next time!

Aoife

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