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

November 18, 2022 2

Autism in ‘The Rosie Project’

Greetings Earthlings! 🙂

This week I’d like to talk about a book that was recommended to me by several people around the time of my diagnosis (most notably by my grandmother, the name pressed into my hand on a folded piece of notepaper as if my diagnosis were a state secret!😂)- Graeme Simsion’s ‘The Rosie Project.’

You reading group: The Rosie Project by Graeme Simsion | Daily ...

‘The Rosie Project‘ tells the story of Don Tillman, a genetics professor that struggles with social interaction, who creates a questionnaire to determine the suitability of potential female romantic interests (something that he calls ‘The Wife Project’). In the process, he meets Rosie, a completely “unsuitable” candidate with whom he strikes up a friendship, helping her to track down her biological father (“The Father Project”), and falling in love along the way.

Fun fact about the book- a former colleague of the author did in fact create a “Wife Project” questionnaire just like Don (however, as far as he knows this worker was never diagnosed as autistic)!

You can find a trailer of sorts from the author here where he talks about the book and the challenges of translating it for other countries:

It’s an endearing, unconventional love story, but how does it’s depiction of autism fare?

Unlike ‘The Curious Incident of the Dog in the Night-Time‘, the book was never explicitly linked to autism in the blurbs, however, many agree that Don is on the spectrum. His logical thinking, strict routines, social awkwardness, his intellect (here we go again 🙄) and struggles with emotions are highly indicative of Asperger’s syndrome, albeit somewhat stereotyped traits. Moreover, Asperger’s and it’s symptoms are directly discussed by Don multiple times throughout the book, but Don never explicitly reveals whether or not he has been diagnosed with it- a clever move by the author as it infers the diagnosis, without accountability for any potential misrepresentation.

Graeme Simsion completes his mega-selling Rosie trilogy

Author Graeme Simsion in 2019

Nevertheless, the book delivers the highly positive message that autists are not just capable of love, but of also being loved in return- and by neurotypicals no less (shock, horror! 😛 ), and I would highly recommend a read of it 🙂 .

In preparation for this post, I recently discovered that this book is part of a trilogy, so I will definitely be checking these out and will write about them in the near future.

Hope you enjoyed this post dear Earthlings! 🙂

Enjoy the weekend!

Aoife

August 21, 2020 2

Autism and Mental Health

Greetings Earthlings! 🙂

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

bitmoji1256098968 In recent years our awareness of and willingness to tackle mental health issues has increased significantly, however, the autistic community is often forgotten in our discussions.

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

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

bitmoji-20190226102522

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

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

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

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

bitmoji-20190226101111

Hope you enjoyed this post dear Earthlings! 🙂

Until next time!

Aoife

March 1, 2019 11

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).

Image result for what gif

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?

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

February 23, 2018 1

Autism Through The Ages

Greetings Earthlings! 🙂

In this week’s post I’m going to briefly explore the history of autism.

So gather round for storytime! 😀

fgghd

As autism rates increase, many people have come to believe that the condition is relatively new. Whilst the clinical term may be in it’s infancy, autism can in fact trace it’s genetic lineage back through millennia!

Genetic research has shown that some of the key genes involved in the development of autism came from our shared heritage with the apes, predating the evolution from monkey to man (somewhere in the region of 7 million years ago).

Image result for evolution

Other related autism genes are slightly more “recent” than this, having come into existence over 100,000-years ago.

Whilst a third of autistic genes may come about through spontaneous genetic mutation, from this evidence we can see that autistic genes were inserted into the genetic code of our ancestors for a reason.

Interestingly in ancient times, people that displayed autistic traits were in fact highly revered. Such autistic traits as exceptional memory skills, creative thinking, observational skills, heightened senses and extensive knowledge in important areas such as plants and animals (i.e specialist interests), would all have been greatly valued in an ancient community. The incorporation of these skills within the group would have been essential to their survival.

Experts also believe that autistic skills such as memory and attention to detail may have contributed to the creation of ancient cave paintings such as this one:

How often we focus on the negatives of autism that we fail to stop and consider the reasons these genes exist. If they were a hindrance to the human race, why have they not been eradicated through millennia of evolution?

I think Temple Grandin sums it up pretty well here:

Image result for autism genes memes

And she would be right! 😉 Experts believe that autistic genes have been conserved to advance our intelligence. Variants of autistic genes have been linked to improved cognitive performance and the formation of new brain cells.

Such talented historical figures as Michelangelo, Mozart, Beethoven and of course, Albert Einstein, are all believed to have shown signs of autism- but history remembers them for their esteemed achievements, not their genetic quirks.

Something that we would all do well to think of when we commit autistic people to the annals of history in future.

So there we have it Earthlings, I hope you find this information as interesting as I found it 🙂 I could go on further buuuuttt I think I’ll spare you the clinical history of autism for another day 😉

Have a good weekend everyone! 🙂

Aoife

September 1, 2017 1

Can animals have autism?

Greetings Earthlings! 🙂

Today I’d like to explore something I’ve been wondering about a lot recently: can animals be autistic?

We’ve often been told how closely related human and animal genomes are, but what about our brains?

I often look at my German Shepherd and see a lot of autistic traits in him- he has ADHD and anxiety, behaves inappropriately, thinks creatively (he once buried a bone in a mattress) and never really grew out of his puppy brain despite recently turning 6!

Image result for crazy dog gif

^^^Not my dog, but similarly bonkers! 😛 😉

Naturally, I could be imagining it (as a scientist it’s hard not to over analyse), but what does the evidence have to say?

In clinical research, there are a number of animal models which have been genetically bred to exhibit autistic traits including rats, fruit flys, monkeys and most commonly mice. These animals will have mutations in genes that have been linked to autism which causes them to exhibit some common autistic traits. In the mouse model for example, mice show signs of repetitive behaviours, deficits in social interaction and reciprocation, memory deficits and increased aggression.

But what about in nature?

There is very little evidence to suggest that animals can be autistic, however, a recent study by veterinary behaviorists in the USA has indicated that there is evidence of canine autism!

whoa shock waynes world waynes world 2 GIF

I know!

Maybe I should get my dog diagnosed… 😉

In fact, vets have considered the possibility of autism like symptoms in dogs since 1966!!

The 2015 study examined tail chasing behaviours in bull terriers in addition to running DNA analysis. These researchers found that tail chasing was associated with trance-like behaviour and random outbursts of aggression in these dogs. In addition to this, tail chasing was more common in males than females- just like human ASD’s. This group also suggested that the physical features of these bull terriers (long face, high-arched palate, and large ears) could be indicative of Fragile X Syndrome- a genetic condition where 15-60% of this population are additionally diagnosed with autism.

This study is not definitive, but it does open us up to the possibility that autism may naturally exist in the animal kingdom.

As autism can be difficult enough to diagnose in humans, you never know- other animals could quite possibly have autism, we’ve just never considered it! 🙂

Aoife

June 23, 2017 3

Autism and Skin Sensitivity

Greetings Earthlings! 🙂

So today I spent much of my time screaming inside my head- “Why does this outfit itch so much???!!!” 😛

Image result for itchy gif

This is a fairly common complaint for autists when it comes to clothing.

A single sharp fiber in your skinny jeans, an irritating label on your neck, a twisted bra- the niggling is a killer to the autistic brain!

When my skin is irritated, I find it very difficult to concentrate on much else until the offending stimulus is removed. It drives me insane- especially if I’m not in a position to remove or adjust the offending item of clothing. I’ve often had to find creative ways to navigate clothing irritation when out in public such as well placed blister plasters (I did this to the irritating clasp of a lanyard once!) and toilet roll to create barriers against the fabric!

Needs must after all! 😉

bitmoji1326577628

But is my skin really this sensitive?

According to science, the answer is yes!

Research suggests that gene mutations cause problems for the sensory nerves in our hands, legs, arms, fingers and of course, the skin covering them. Mutations cause these nerves to be excessively sensitive- described by scientists as having the volume turned up to the max setting. When these nerves relay sensory information back to the brain, the brain feels the touch of certain stimuli at a heightened, exaggerated level.

Hence my internal screams! 😛

Another study, which tested the response of autists and neurotypicals to sensory stimuli (e.g. a scratchy wool jumper) in a brain scanner, found that the autistic brain reacts more strongly. The primary cortex of the brain (involved in sensory processing) and the amygdala (involved in emotional regulation) were both hyperactive during this experiment, suggesting that autists a) process sensory input differently, and b) struggle to regulate their emotional response to stimuli.

So what can you do to help an autist with sensitive skin?

This is a tough one to advise. Sensitivities vary from person to person. Some may favour loose clothing, others enjoy the comfort of tight clothes which provide calming deep pressure. In my experience, the best tip that I can offer is to use a seam ripper to properly remove labels (the remnants of the tag can be just as irritating). After that, trial and error is the best way to find out what works for you/or your child 🙂

Some days, sensitive skin can be a pain (especially where undergarments are concerned 😛 ), but hey- it also makes puppies all the fluffier! 😉

Image result for petting fluffy puppy gif

Enjoy the weekend everyone! 🙂

Aoife

June 8, 2017 5

Inside the Autistic Brain

Greetings Earthlings! 🙂

Today I’m going to dive into the physiology of the autistic brain to explain what’s actually going on at the neurological level. I’ve touched on aspects of the science in previous posts, but I wanted to give you a quick overview post where the main points in the one place 🙂

So let’s get down to some science! 🙂

Hyper-connected Neurons:

Scientific evidence suggests that neurons in the autistic brain are hyper-connected. Specifically, studies indicate that autists have too many synapses in the brain. The synapse is basically a gap or a junction between two neurons where chemical messengers (neurotransmitters) carry information like a ferry from one neuron to the next. It looks a little bit like this:

Image result for synapse

During normal brain development, about half of the synapses we are born with are “pruned” off. In autism, this process is slowed down, and so autistic children have an excessive amount of synapses compared with their neurotypical peers. As these connections are essential to communication between neurons, this can greatly effect how the brain works and processes information.

Dysfunction at the Junction:

In addition to possessing an excessive number of synapses, communication at these neuronal junctions is also impaired in the autistic brain.

Animal studies have indicated that synapses function differently in the autistic brain as a result of genetic mutation. Mutations cause certain proteins to be absent in autism- proteins that are essential to the normal functioning of the synapse. As a consequence of this, the transmission of information between neurons is affected, resulting in a number of social and behavioral issues.

Think of physical junctions on a busy road- if something goes wrong at the junction, a chain of chaos will ensue!

Image result for junction crash gif

Hyper-excitable Neurons:

Research shows that in many cases of autism, neurons in certain regions of the brain are more excitable than others. This means that these neurons are more sensitive to stimulation. For example, the neurons located in the sensory cortex of the brain (which processes sensory information such as smell), are more sensitive and excitable than other neurons. This is kind of like how a person can be more ticklish in some parts of the body than another- the nerves in the underarm are more excitable than those of the arm.

This sensitizes the autistic brain to all kinds of stimuli as discussed here.

Dysregulated Neurotransmitter levels:

As previously mentioned, information travels across the synapses in the brain via chemical messengers known as neurotransmitters. In the autistic brain, the levels of these neurotransmitters are dysregulated- or out of sync. Research indicates that individuals with autism tend to have higher levels of excitatory neurotransmitters (e.g. glutamic acid) and lower levels of calming neurotransmitters (e.g. GABA, serotonin) causing neurons in the autistic brain to fire excessively. In addition to this, levels of the neurohormone (a chemical that acts as both a hormone and neurotransmitter) oxytocin, which plays an influential role in trust and social behaviours, are also out of balance. Moreover, dopamine (a neurotransmitter which can both calm and excite) is also dysregulated in autism. Together, the action of biochemicals like these influences a number of autistic behaviours and issues such as ADHD, mood, appetite, sleep, anxiety, sensory processing, social behaviours, learning, memory and emotional responses.

Male vs Female Brain

Perhaps one of the most fascinating things that I have discovered about autism are the anatomical differences between the brains of the male and female autist. Brain imaging studies have revealed that autistic women have brains that are anatomically similar to neurotypical male brains, and the brains of male autists share anatomical similarities to those of neurotypical female brains.

In short- this indicates that men with autism have feminine brains, and women with autism have masculine brains!!!

I know!!!!

It sounds weird, but it makes a world of sense. Oftentimes I’ve felt like I had a male brain growing up- my tomboyish interests, my fashion sense, my preference for male company, my inability to walk in heels; it all fits!

Strange but true! 🙂

There we have it Earthlings- hope you enjoyed this brief insight into the physiology of the autistic brain 🙂 There is no clear mechanism through which autism acts, these are just some of the likely pathways involved. I’ll explore other possible mechanisms in a later post.

Have a good week everyone! 🙂

Aoife

April 10, 2017 16

Impulsivity and Autism

Greetings Earthlings! 🙂

In continuation from the previous post exploring curiosity and autism, today we’re going to take a look at impulse control in autists.

Many people with autism report issues with impulsivity.

All my life I’ve struggled with this issue. Too often I’ve felt like Didi in ‘Dexter’s Laboratory’, dying to know what the button will do and being unable to keep myself from pushing it! 😛

As a child I was highly impulsive. I never knew when to stop eating, would impulsively give up on a book halfway through in favour of another (at one point I had 9 books on the go!) and when overwhelmed I would often try to run away.

During one particularly interesting meltdown I began to impulsively throw all items that my mother had given me out of my bedroom window (which is a storey high I might add), whilst my sisters in the room below gleefully retrieved them, each determined to claim ownership…Clear example of black logic at work! 😛

So why do we struggle with impulsiveness?

Impulsivity in autism can be explained by deficits in what is known as executive functioning.

Image result for huh gif

Don’t worry- it’s not as complicated as it sounds! 😛

Executive functioning is simply a broad umbrella term referring to the mental processes involved in cognitive, physical and emotional self control. Examples of executive functions include planning, memory, cognitive flexibility (the ability to adapt thinking to new and unexpected situations) and most importantly response inhibition– aka the ability to suppress unnecessary or inappropriate actions.

But what causes these deficits in executive functioning?

Many autists also suffer from attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD), both of which have an effect on executive functioning and impulsivity. I’ll explore these disorders at a later stage 🙂

Experts believe that ASD’s share a common genetic basis with ADD and ADHD, indicating that genetic mutation may be at the heart of these deficits in executive functioning.

Impulse control can be quite challenging at times (it’s a real struggle not to run squealing to every single puppy I encounter for a cuddle! 😛 😉 ) but as I always say, it is by no means a cause for despair. You will eventually learn control with time 🙂

Granted I can still be quite impulsive at times- feeling the urge to curl up asleep on the floor like a dog in company (an urge I feel quite a lot! 😛 ), wondering what it would feel like to step on hot ash/coals or wanting to draw designs all over my face with makeup; the difference being that now I am able to choose whether to ignore or act upon an impulse 🙂

Well…for the most part! Still haven’t fully cracked compulsive eating…or maybe I just don’t want to! 😛 😉

Enjoy the weekend everyone! 🙂

Aoife

March 31, 2017 14

Social Awkwardness & Autism

Greetings Earthlings! 🙂

Soooo today we’re going to talk about perhaps one of the biggest banes of my life- social awkwardness! 😛

I’m not going to lie- social awkwardness is not fun. The constant fear of saying the wrong thing or not knowing what to say, the burning sensation in your face that’s never far away (huzzah for unintentional rhyming! 😀 ).

This article sums up the feeling pretty nicely through gifs’ s:

http://mashable.com/2013/08/15/awkward-gifs/#N36QeeXevGqn

Sitting awkwardly by yourself waiting for friends to arrive in a pub, tapping your glass and constantly sipping just to look like you belong, the pitying glances of bar staff when they see you at a table alone-the awkwardness can be all consuming.

I can’t tell you how many times I’ve wanted to run from/avoid social encounters because of this awkward feeling.

Awkwardness is worse still when you’re hit by memories of previous awkward encounters! It’s a real domino effect- one awkward memory brings dozens more to the surface until you’re drowning in the red hot embarrassment of a cringe attack! 😛

I am constantly haunted by memories of my social awkwardness, buuuut as time goes on, you eventually learn not to dwell on your social failings 🙂

It’s a struggle yes, but you can push through the awkwardness. Over the years I’ve devised ways to navigate the rapids- making self deprecating jokes, keeping a mental list of backup topics for awkward silences, chugging a drink you’ve been bought (but don’t like) while your friend is in the bathroom so they don’t see your disgusted facial expressions 😛 😉

Social awkwardness may be a pain, but ultimately you can’t let the fear of getting wet keep you from swimming the social seas 🙂

Who knows-you might even put your awkward stories to good use in a blog some day! Comedy is tragedy plus time after all! 😛 😉

But is there any scientific reason for our social awkwardness?

Remember oxytocin?

Scientists have linked gene variations in the oxytocin receptor (which allows oxytocin to bind and interact with the body) to autism. Evidence indicates that people with autism have a specific variation in the oxytocin receptor (rs53576) which makes it more difficult for them to empathize, read facial expressions and social situations- predisposing us to social awkwardness.

In addition to this, psychologists have suggested that social awkwardness is all about perception. Awkwardness is thought to be influenced by the individuals perception of how a social situation should play out versus reality. If a social interaction does not go as planned…then the awkward turtle swims into view!

This is a particularly interesting hypothesis. Oftentimes I find myself feeling awkward when silence falls in social settings as I perceive conversational silence to be awkward….aaaand then I tend to ramble on nonsensically to fill that silence! 😛

In reality, the silence may not in actual fact be awkward. Companionable silence is perfectly natural; the awkwardness I feel may inadvertently be of my own creation!

So it seems that perhaps social awkwardness in autism comes from the disparity between perception and reality in social interaction.

Social awkwardness is also thought to ironically help people improve their social skills! It has been theorized that social awkwardness acts as a warning system to help us to recognize that we have made social mistakes so that we will not repeat them in the future.

Seeing as autists struggle with social communication and interaction, it stands to reason that we often feel awkward so that we might improve our social skills in the future.