Autism and Lactate/Lactic Acid

Greetings Earthlings! πŸ™‚

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/Ξ²-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! πŸ™‚

Aoife

Autism and Seasonal Affective Disorder (SAD)

Greetings Earthlings! πŸ™‚

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! πŸ™‚

Have a lovely weekend!

Aoife

Autism and Abuse

Greetings Earthlings! πŸ™‚

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! πŸ™‚

Aoife

Autism and Auditory Processing Disorder (APD)

Greetings Earthlings! πŸ™‚

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! πŸ™‚

Aoife

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 Dyscalculia

Greetings Earthlings! πŸ™‚

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 πŸ˜› ) . 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! πŸ™‚

Aoife

Autism and Irlen Syndrome

Greetings Earthlings! πŸ™‚

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 syndromeΒ (SSS) orΒ 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! πŸ™‚

Have a lovely weekend!

Aoife

Autism and Hyperlexia

Greetings Earthlings!

Leading on from previous post about dyslexia, this week I’d like to discuss the phenomenon of hyperlexia and autism.

So first things first, what is hyperlexia?

Hyperlexia is a phenomenon where a child begins to read at a surprisingly early age beyond their expected ability compared with their peers. Onset is usually before 5 years of age, and the child tends to develop the skill without any training or prompting. It’s often described as a “splinter skill”- unique, but not very useful. It’s estimated that approximately 84% of those diagnosed with hyperlexia are on the autistic spectrum equating to between 6-14% of the overall autistic community.

There are 3 different types of hyperlexia:

  • Hyperlexia I– occurs in the neurotypical population where children learn to read at a very early age. This is usually considered temporary as their peers will eventually learn to read and catch up to hyperlexic children
  • Hyperlexia II– this is the form of hyperlexia that is most associated with autists. Beginning in infancy, hyperlexic autists are often obsessed with letters and numbers, tending to show a preference for books instead of other toys. Autistic hyperlexics also tend to have excellent recall for important numbers like phone numbers, dates and licence plates
  • Hyperlexia III– is quite similar to hyperlexia II, but the symptoms tend to decrease with time and disappear. Type III hyperlexics may have delays in verbal language and development like autists, but they tend to have remarkable skills for reading comprehension and excellent memory recall. However, unlike autists, these children generally have no issues with social interaction and anxiety

In my own experience, I’d say I probably had some mild hyperlexic tendencies as a child. I loved books- my mother couldn’t buy me enough to keep me entertained! As I’m sure I’ve told you in previous posts, my reading skills were so advanced at 6 years old in senior infants, my teacher from the previous year invited me to come and read to her junior infant class (4/5 year olds)!πŸ˜‚ I’ve always had an excellent memory and am pretty good at remembering dates, but as the experts say this skill isn’t the most exciting or useful- no point in donning a cape and calling myself a superhero πŸ˜›

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend πŸ™‚

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

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