Tag: spectrum

Autism and the Immune System

Greetings Earthlings! 🙂

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

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

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

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

So how does the immune system relate to autism?

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

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

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

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

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

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

2

Autism & Joint Hypermobility

Greetings Earthlings! 🙂

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

So what exactly is joint hypermobility?

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

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

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

Here’s a closer illustration for context:

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

So how are the conditions linked?

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

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

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

3

Autism and Clinical Research/Trials

Greetings Earthlings! 🙂

This week I’d like to discuss a little more unusual- the participation of autists in clinical research and trials.

Now before we get into this post, I’d like to preface things by reiterating my stance from previous posts that autism is not something to be “cured”, but that being said, pharmaceutical interventions can be useful in the treatment of conditions that are co-morbid with autism such as OCD, bipolar disorder, ADHD, GI issues etc., not to mention every day illness, so research participation can be highly beneficial for autists.

So what exactly is clinical research and why do we need it?

In a nutshell, clinical research is a branch of medicine that determines the safety and efficacy of treatments intended for use in humans. It differs from lab based research in that human volunteers are involved to advance our knowledge of health and medicine- most of the studies that I refer to in my posts would be classified under clinical research. Research is split into two branches:

  • Observational studies -where groups are observed/monitored to gather health data
  • Clinical trials/interventional studies– where a treatment/drug is administered to a group of volunteers to assess its safety and efficacy. Depending on the trial phase the volunteers may be healthy or target patients for the drug/treatment

Human studies are the only way to truly determine drug safety and efficacy prior to marketing, so clinical research is essential to the advancement of medicine. Diversity in clinical investigations is particularly important as it allows us to better predict potential patient outcomes after treatment roll out. Historically speaking, trials were not particularly diverse and didn’t always cater to target patients. Many trials were subject to gender bias with males dominating the data- there were even breast and uterine cancer studies conducted exclusively on males! We now understand the importance of enrolling biologically diverse groups, hence autists participation in clinical research could be greatly beneficial.

But clinical research can be daunting for anxious autists, not just at the prospect of poor outcomes and side effects, but there are many barriers that may make participation difficult for an autist. There are often a lot of sensory challenges in the clinical setting with bright fluorescent lights, strong smells from medicines and cleaning products, alarms and noises from medical devices etc. which would need to be addressed by clinical staff when enrolling autists in studies. Co-morbid ADHD can also be an issue as autists may find it difficult to pay attention during visits and may become distracted by their surroundings making it difficult to collect data. Similarly ADHD can also impact patients motivation and interest in the trial which can make it tougher to get them to stick with it. Autists also often have difficulty with taking medicines on a sensory level so non-compliance with any treatment regimes will not generate usable data for investigators.

Many of these barriers can be overcome through environmental modifications, frequent breaks and adequate educational and emotional support during research studies. If clinicians and autism advocates work together to make research more accessible for autists, who knows what good may come in future clinical investigations!

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

0

Autism and Lactate/Lactic Acid

Greetings Earthlings! 🙂

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

So what exactly is lactate?

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

But what does all this have to do with autism?

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

Microscope image of Mitochondria

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

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

0

Autism and Seasonal Affective Disorder (SAD)

Greetings Earthlings! 🙂

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

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

So what exactly is SAD?

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

But is there a scientific link with autism?

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

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

Hope you enjoyed this post dear Earthlings! 🙂

Have a lovely weekend!

Aoife

0

Happy New Year 2023!

Greetings Earthlings! 🙂

Happy New Year!! 🥳🥳🥳🥳🥳🥳🥳

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 🙂

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! 🙂

Aoife

0

Autism and Auditory Processing Disorder (APD)

Greetings Earthlings! 🙂

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

So what exactly is APD?

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

So how is APD linked to autism?

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

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

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

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

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

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

0

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

2

Autism and Dyscalculia

Greetings Earthlings! 🙂

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

So what exactly is dyscalculia?

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

So what causes dyscalculia?

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

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

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

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! 🙂

Aoife

1

Autism in ‘I Used To Be Famous’

Greetings Earthlings! 🙂

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 🙂

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend 🙂

Aoife

1

Blog at WordPress.com.

Up ↑