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

Happy New Year 2023!

Greetings Earthlings! πŸ™‚

Happy New Year!! πŸ₯³πŸ₯³πŸ₯³πŸ₯³πŸ₯³πŸ₯³πŸ₯³

Apologies for my late seasonal greetings, but I’d just like to take this opportunity to wish all of my readers every blessing for 2023 πŸ™‚

This week marks 6 whole years of my blog (where on earth has the time gone?! :O ) so it’s time for a bit of an appreciation post!

Thank you all so much for your continued support and readership this past year. 2022 saw 73,000 of you guys stop by to read my posts- a new record for this site! I am truly honoured and humbled by your kind words every year about how much this blog means to you guys. I could do none of this without your love and support ❀

Here’s to 2023- there’s lot’s more to come!

Have a lovely weekend dear Earthlings! 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 in ‘I Used To Be Famous’

Greetings Earthlings! πŸ™‚

This week I’d like to talk about Netflix’s latest drama film ‘I Used To Be Famous‘ and an autistic character that appears in the film.

So what is the film about?

The film follows Vince (played by Ed Skrein), a former member of a famous boy band who has been struggling to make headway with his own electronic music since the dissolution of the band several years previously. One day while busking in the city, he happens upon a teenage boy who starts drumming a beat on a nearby bench in sync with his electronic stylings. The resulting music captures the attention of everyone around and a video of the incident goes viral online. As it turns out, Stevie is on the autistic spectrum and a passionate drummer. Vince tracks him down in a music therapy group for people with disabilities and proposes that they start a band together in his desperation to make it back on top, a move which changes both of their lives forever.

You can see a trailer of the film below:

So how was this films depiction of autism?

The writers have kept things simple in the film, choosing to make Stevie’s drumming abilities the main focus rather than his autism, showing us all that autism should never be a blocker to achieving your dreams. Now one of the great things about this film is that building on from Atypical, Netflix has cast an autistic actor, Leo Long, to play Stevie. Leo is a talented drummer with the London Youth Folk Ensemble and National Open Youth Orchestra, and a passionate advocate for making the music and film industries more accessible for individuals with disabilities.

It’s a heartwarming film with some great tunes to boot- perfect for a quiet evening in πŸ™‚

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 on Screen- Sherlock

Greetings Earthlings! πŸ™‚

This week I’d like to take a look at autism in the popular BBC mystery/crime drama series ‘Sherlock‘ starring Benedict Cumberbatch and Martin Freeman (I know, I’m a bit late to the party on this show, but I only recently binged it during the pandemic πŸ˜› ).

So what’s Sherlock about?

The premise of Sherlock is fairly self explanatory- it’s a series based on the infamous Sherlock Holmes stories by Sir Arthur Conan Doyle set in modern day London. Holmes, a consulting detective, works closely with his friend Dr. Watson to solve mysteries and crimes across London by using Sherlock’s keen powers of observation and deduction in tandem with modern sleuthing technologies, giving Holmes’s story a contemporary edge.

Here’s a trailer of the series for those of you who have never seen it:

So how does autism tie into all of this?

There has been much debate as to whether or not the character of Sherlock has Asperger’s Syndrome. Many experts have theorized that he original character of Sherlock Holmes in the 19th century stories may have been displaying signs of autism decades before the condition was first characterized. Sherlock indeed displays many traits of Asperger’s- his powers of observation, his intellect and memory, obsession with his work, issues with sleep and drug addiction, mind blindness to social cues, his struggles with empathy, and moments of perceived sociopathy (some autists have been misdiagnosed as sociopaths) all tend to paint the picture of an autist. Moreover, the chief of police and Dr. Watson have even theorized that Sherlock may have Asperger’s.

You can find a video of some of Sherlock’s best bits in the show at the link below:

https://fb.watch/eIYlHsMlKw/

However, this depiction has not been without it’s critiques. It has been argued that this depiction of Sherlock as a superhuman intellect with sociopathic tendencies is damaging for the autistic community as this is a negative, somewhat romanticized and simplistic portrayal of the condition that can mislead the public in their perceptions of the condition (although let’s face it- 90% of autistic characters recycle the same traits and rarely give us an insight into the variety and complexity of the neurodivergent population πŸ˜› ). The autistic community on the whole however, has mainly been supportive in claiming Sherlock as one of our own as many relate to Sherlock and feel seen in Cumberbatch’s portrayal.

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! πŸ™‚

Aoife

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