Tag: science

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

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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

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Autism and Asthma

Greetings Earthlings! 😀

Having just been officially diagnosed with asthma this week (after 23 years of uming and ahing about whether to diagnose as it’s been mild thusfar), I decided to do some investigating to see if there are any links between ASD’s and asthma.

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Did you know, that autists are 35% more likely to suffer from asthma than the general population?

Seemingly random, but true!

So what exactly is happening in the lungs of asthmatics?

Asthma is a chronic inflammatory disease of the airways in the lungs. Inflammation in the airways in response to triggers (such as allergens, cold air, tobacco smoke etc.) causes the airways to narrow and spasm, resulting in bouts of wheezing and shortness of breath- which I’m ironically experiencing as I write this *drags deeply on inhaler*.

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But how exactly are asthma and ASD’s intertwined? 

The exact cause of asthma, like autism remains unknown, however, it’s inflammatory nature may reveal it’s links to autism. A recent study suggests that there is a connection between inflammation and ASD’s. Post mortem examination of the brains of autists show that there are increased levels of the pro-inflammatory cytokine (a substance secreted by the immune system) IL-18 in the amygdala and the dorsolateral prefrontal cortex of the brain- areas where alterations are often linked to autism. Perhaps these increased inflammatory markers may predispose autists to the development of asthma. Moreover, research has shown that there is genetic overlap between asthma genes and multiple mental health disorders such as anxiety, ADHD and major depressive disorder (MDD) that are often co-morbid with autism, which could suggest a common genetic pathway for both asthma and autism.

In addition to the link between asthma and autism, recent research suggests that having a parent with an asthma diagnosis may slightly increase the risk of autism development. However, there are conflicting studies as to whether or not the use of asthma medications during pregnancy may increase this risk (although the most recent of these studies supports their use).

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Hope you enjoyed this post dear Earthlings! 😀

Have a lovely weekend!

Aoife

 

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Autism- Atypical Language Use

Greetings Earthlings! 🙂

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! 😛 😂 Similarly, my supervisor nearly shot me for including the word “multitudinous” in my first publication! Needless to say it was pulled during edits 😛

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I was most interested to learn after my diagnosis that my verbosity (couldn’t help myself choosing this word! 😂)  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!  😛 😉

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Hope you enjoyed this post dear Earthlings! 🙂

Until next time!

Aoife

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Early Signs of Autism

Greetings Earthlings! 😀

Happy New Year! 😀

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Still can’t quite believe I’ve been blogging now for over 2 years, it’s madness! 🙂

This week I’m going to take a look at some of the early signs of autism to look out for. ASDs are usually detectable before a child’s third birthday, with some signs appearing even earlier (a recent study detected signs as early as 6 months). A definitive diagnosis can only be obtained after the age of two, however, here are some of the early signs to look out for:

Diminished Visual Attention/Eye Contact– if a baby shows more interest in objects/toys than the people interacting with it, this could be an early indicator of autism. This behaviour may be noticeable as early as 6 months. Similarly a tendency to avoid eye contact may also be an indicator

Aversion to Cuddling– a lack of response to cuddling or a lack of interest in initiating a cuddle may too suggest that your child might have an ASD

Colic- There is some evidence to suggest that colic may be a very early sign of autism (yours truly for example was a colicky baby). Colic is defined as “episodes of crying for more than 3 hours a day in an otherwise healthy baby”. The cause is unknown, however many believe it may be linked to GI discomfort- and GI issues are often co-morbid in cases of autism. Colic rates do not appear to be elevated in the ASD population, however excessive crying may still be an early indicator of autism

 

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Fecal smearing– As discussed previously, fecal smearing (or scatolia) can be one of the earliest signs of autism, most likely thought to be a sensory response to periods of under-stimulation in autists.

Other early signs of autism may include a lack of physical gestures for communication, lack of interest in playing with others, a (perceived) lack of empathy or if your child fails to imitate movements and facial expressions.

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When it comes to autism, early diagnosis can be critical to getting your child the best possible interventions to allow them to thrive in later life, so it’s useful to know the early indicators to watch out for.

Hope you enjoyed this post dear Earthlings! 🙂

Enjoy the weekend!

Aoife

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Autism and Fear

Greetings Earthlings! 🙂

In light of this spooktacular week, I’ve decided to take a closer look at fear and autism.

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All of the Halloween themed memes floating around on social media this week have put me in mind of how strange some of my childhood fears were in comparison to those of my peers (in fact it’s estimated that as many as 41% of autists tend to have more unusual/irrational fears).

For starters, I was PETRIFIED of comedian Charlie Chaplin! 😛 Absolutely TERRIFIED- he haunted my nightmares for years and I was convinced if I lingered in a dark room for too long that he would come out from the shadows to grab me! In addition to this, I was also irrationally afraid of chemicals and overhead power-lines (so afraid in fact I was convinced just touching the wooden pole would kill you- it was an innocent time before I learned about science and insulators vs conductors!🤓).

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Fear has often been a dominant emotion in my life, fear of what people might think of me, fear of saying the wrong things, fear of losing my cool and melting down in public etc.  According to world famous autist Temple Grandin, “the principal emotion experienced by autistic people is fear.”

But is there any scientific reason for this fear? Might autists be biologically predisposed to being more fearful?

When we experience a fearful situation, a biological fear response is triggered in the amygdala of the brain. Activity in this region when exposed to fearful stimuli triggers fear based changes in body functions such as sweating, shortness of breath, fight or flight, paralysis etc.

As discussed in numerous previous posts, changes/dysfunction in the amygdala are regularly attributed to autistic symptoms. So therefore it stands to reason that perhaps these changes in the amygdala may also influence/exacerbate the fear response in autists compared with their neurotypical peers.

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Other studies have also suggested that there is a muted fear response in autists which may explain the lack of perception concerning safety/danger often seen in young autists.

So there we have it, hope you enjoyed this post dear Earthlings! 😀

Have a great weekend! 🙂

Aoife

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Research News Update July 2018

Greetings Earthlings! 🙂

The world of research is fast paced- every day new studies are published telling us new and exciting things about the human body. As the scientific community has yet to pinpoint the exact underlying mechanisms involved in autism, the wheel of research is constantly churning out new evidence to provide us with a better picture of the autistic brain.

Since my previous post about the neuroscience of autism, there have been several new and exciting insights into the physiology of the autistic brain, so I’ve decided to give you a brief summary of the research! 🙂

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Folding in the Brain

In recent weeks a study has emerged that suggest that symptoms of autism may be attributed to excessive folding in the brain.

No- I’m not talking origami, but the formulation of the squiggly ridges or ‘folds’ that make up the brain (by a process known as gyrification) as you can see in the gif below:

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Brain tissue folds to allow for a greater surface area for cognitive functioning within the cramped confines of the skull- like a bar of chocolate melts quicker when you break the pieces up, so too does the folded brain work more efficiently than if the surface were smooth.

Recent research shows that autists brains may not fold in the same way as their neurotypical peers. Some regions of the brain, such as those associated with facial recognition are smoother in autists, whereas other areas such as the temporal (sensory processing) and frontal lobes (memory and attention) show signs of exaggerated folding. Excessive folding in these areas could explain sensory sensitivities in autists, in addition to variations in memory and attention deficits. On the other hand, decreased folding in the occipital lobe may explain why autists struggle with facial reading and processing 🙂

Brain Shape

In addition to folding, recent research has focused on the cerebellum (meaning little brain in Latin) which contains roughly 80% of the neurons of the brain whilst only taking up 10% of it’s total volume! Thought to be associated with implicit learning (learning without awareness like learning to ride a bike or to swim), sensory function and cognitive function, 3D analysis of MRI data suggests that the shape and structure of the cerebellum may be different in autism. It appears that in some autists the cerebellum is flatter on the right side (the flatter the tissue, the lower the efficiency of the brain), but in autists with higher functioning social skills the structure is closer to that of a neurotypical individual- which may explain some of the communication difficulties associated with autism as the right side of the cerebellum is associated with language processing.

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Abnormal Brain Connections

MRI scans of preschoolers with autism have provided more evidence that the autistic brain is abnormally connected. In this study it appears that a number of brain networks connecting different areas of the brain show significant differences from neurotypicals. A number of components of the basal ganglia network in particular were altered in autism (which plays an important role in behaviour). Differences were also found in the para-limbic network which is also involved in behaviour in addition to emotional processing, motivation and self-control.

This may indicate the use of MRI scans to obtain faster autism diagnoses in the future, but it’s still very much early days 🙂

There we have it now dear Earthlings, hope you hadn’t missed me too much while I was away.

Enjoy the weekend everyone! 🙂

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Aoife

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Autism and Echolalia

Greetings Earthlings! 🙂

This week we’re going to talk about something that effects approximately 75% of autists- Echolalia.

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I know, I know, it’s a mouthful- but echolalia is actually quite simple:

Echolalia is the meaningless repetition of noises, words or phrases immediately after their occurrence (although sometimes this can be delayed).

Derived from Greek echo, “to repeat,” and laliá, meaning “talk” or “speech,” Echolalia is an automatic and unintentional behaviour.  In most cases Echolalia is used in an attempt to communicate, practice or even learn language. In fact, Echolalia is part of normal development- every child experiences Echolalia when they learn a spoken language.

However, whilst “normal”, this behaviour can persist for longer in autists.

But why might this be?

Psychologically speaking, Echolalia is considered by some to simply be a repetitive or self-stimulatory behaviour in autists (as some experience this behaviour only when they are stressed), however, the general school of thought is that it is a communicative behaviour. Imitative behaviour is an essential part of social learning. As autists struggle so much socially, this imitative behaviour can act as a tool to help improve their social skills.

I’ve certainly exhibited such imitative behaviour during my formative years. For example, I somehow got it into my head that in my final year of primary school I needed to practice my swearing so that I would better be able to fit in when I made the jump to secondary school! 😬🙈 Wasn’t especially successful- sure I could swear like a sailor, buuuuuut it didn’t do much to improve my social skills or status (but I suppose I sounded a little less like a walking thesaurus for a change! 😛 ).

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On the biological side of things, much of the physiology of Echolalia remains to be explored, however, one study indicates that the ITGB3 gene (which carries the information for β3 integrin- a cell membrane protein that will interact with other proteins to trigger a number of biochemical reactions in our cells) seems to link autism and echolalia.

There we have it now Earthlings I hope you enjoyed this post! 🙂

Have a lovely weekend everyone! 😀

Aoife

5

Autism and Memory

Greetings Earthlings! 🙂

In today’s post we’re going to explore the concept of memory and autism.

When we think of autism and memory, we often picture the ‘Rain Man‘ stereotype- an individual with superb, photographic memory.

Whilst this is a stereotypical view of autism, stereotypes often are based on fact. It is indeed true that many autists possess impeccable and often eidetic memories (although the scientific jury is still out as to whether or not true eidetic memories really exist).

Just check out this autstic artists sketch drawn entirely from memory! 😲

However, the opposite is also true in that many individuals with autism equally possess a number of memory deficits such as difficulties with short term and working memory (a part of the short term memory that temporarily stores information for processing-e.g decision making, reasoning and behavior). As a result of this, children with autism often have poorer memory for more complicated information.

My own memory has always been kind of strange- I fall somewhere between having a normal memory and an eidetic one (I definitely don’t have a full eidetic memory- school would have been a lot easier if I had! 😛 )

bitmoji792226925Whilst I can’t recite the entire works of JK Rowling word for word, my brain does however, tend to randomly churn out eidetic memories every now and again (known as sporadic eidetic memory). I sporadically come out with full eidetic memories recalling such minuscule details as clothes, smells, songs, haircuts etc. My memories are so detailed that I once when recounting the previous night’s episode of Desperate Housewives to my Physical Therapist went so far as to mention the likely flavour of smoothie that the ladies of Wisteria Lane were drinking as they gossiped! 😂😬

I’ve unwittingly been dubbed the “family historian” as a result 😛

But what has the science to say about memory and autism?

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The research is conflicting. Scientists have had great difficulty in obtaining consistent results across memory studies- they are as diverse as the spectrum itself!

However, there are a couple of areas in which scientists seem to agree:

  • Visual memory is thought to be a particular strength in autists due to increased activity in visual areas of the autistic brain, resulting in enhanced perceptual processing (and eidetic memory formation)
  • Deficits in working memory may arise from alterations in the brain networks involved in working memory such as the amygdaloid complex and the medial temporal lobe (MTL) affecting their ability to encode and process information

Fun Fact: The regions of the brain involved in declarative memory (memory of facts and events) are thought to compensate for social deficits in autism, becoming activated in social situations to allow autists to mask (for example using formulaic speech i.e. learned phrases)

That’s all for this week dear Earthlings- I hope this post was ‘memorable’ 😉

Enjoy the weekend! 😀

Aoife

5

Broad Autism Phenotype (BAP)

Greetings Earthlings! 🙂

Today we’re going to discuss a type of autism that lies just outside the spectrum- the broad or broader autism phenotype (BAP).

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What on earth is that when it’s at home?!

BAP is a term used to describe a wider range of individuals just beyond the spectrum who have difficulties with language, personality, and exhibit a number of social and behavioural traits at a higher level than the average neurotypical, but not so high as to be diagnosed with autism.

In other words, this means that you have “a touch of autism” or “not quite autism (NQA)”. The individual has a high number of mild traits, but not enough to interfere with daily life.

So what do we know about BAP?

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Relatively little- it doesn’t even have a Wikipedia page!

This intermediate description is most commonly associated with family members (parents, siblings, and other extended family members) of those with ASD diagnoses (14–23%), but it can also be found in the general population as well (5–9%).

Interestingly, evidence of an intermediate autism phenotype has existed since the late 1970’s (the term itself was coined in 1994), but it is only in recent years, with the expansion of the spectrum, that it has become a source of research interest for scientists seeking to understand the range of ASD’s that lie beneath the spectrum rainbow.

Broader autism phenotype

Much of the research in this area involves using the BAP to better understand autism- in particular it’s severity and genetics. By analyzing autism traits in families through the prism of BAP for example, researchers may be better able to identify the specific genes which underpin ASDs, paving the way for better therapies for autists.

Apologies for the shortness of this post dear Earthlings, but there is sadly very little information out there about BAP. Perhaps in the future there may be new research that will shed greater light on this subject 🙂

Have a good weekend everyone! 🙂

Aoife

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