Tag: genetics

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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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! 😀

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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).

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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:

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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

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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!

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^^^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! 

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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! 🙂

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Aoife

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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???!!!” 😛

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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! 😉

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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! 😉

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Enjoy the weekend everyone! 🙂

Aoife

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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! 🙂

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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:

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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!

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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!!!

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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

 

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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! 😛

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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.

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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! 😛 😉

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Enjoy the weekend everyone! 🙂

Aoife

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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:

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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.

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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!

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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.

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So social awkwardness may in fact serve a purpose in autism! 😉

Enjoy the weekend everyone! 🙂

Aoife

2

Autism 101- Savantism & High IQ’s

Greetings Earthlings! 🙂

Following on from the previous post examining ‘Rain Man‘, today I’m going to dive into the area of high IQ’s and savantism relating to autism.

Now before we start, remember- in spite of what Hollywood has led us to believe, savantism is a RARE condition affecting between 0.5 and 10% of autists. This means that over 90% of the autistic community do not possess these skills.

So be sure to take ‘Rain Man‘ with a grain of salt.

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Now that we’ve got that out of the way, let’s explore this fascinating condition properly 🙂

So first off- what exactly is savantism?

Savant syndrome is an extraordinary phenomenon wherein a person with serious mental disabilities (such as autism) shows unusual or exceptional aptitude for a particular area, task or activity in spite of their mental challenges. Historically, these individuals were also referred to as ‘idiot savants’, a term that is sometimes still used today.

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While seemingly  insensitive, the phrase actually comes from the French term meaning unlearned (idiot) skill (savant).

Surprisingly, savant skills tend to exist within five different skill categories:

  • Music (perfect pitch, performance skills)
  • Art (drawing, painting etc.)
  • Mathematics (human calculator abilities)
  • Calendar calculating (i.e. can tell you the weekday a previous date fell on)
  • Mechanical/Spatial skills (model construction, mental measurement calculation)

Other skills have been recorded, but most generally fall within these categories.

Like autism, savant syndrome exists on a spectrum with varying degrees of savant ability. For example, there are:

  • Splinter skills- the most common form, involving memorization and obsession with facts, music, trivia, licence plate numbers etc.; kind of like specialist interests
  • Talented savants- who show highly honed talents and abilities predominantly in single areas of expertise 
  • Prodigious savants-those who possess extraordinary skills

Savant skills are additionally accompanied by exceptional memory. For example the ‘megasavant’ Kim Peek on whom ‘Rain Man‘ is based, memorized over 6000 books in his lifetime, all US area and Zip codes, several maps and possessed encyclopedic knowledge of music, geography, literature, history and sports to name but a few!!!

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Astonishing!!! 😀

So what’s going on in the brain to cause this?

Numerous theories have been proposed to explain this phenomenon, but as with autism, there is no one single theory to explain all cases. However, two theories in particular seem to dominate.

As savantism is found more often in cases of autism than in other mentally disabled groups, leading expert Simon Baron-Cohen proposed a theory concerning hyper-systemizing.

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I know- it sounds complicated! 😛

But basically the theory suggests that savantism results from an autists ability to recognize repeating patterns (systemizing) and excellent attention to detail. People with autism have a different style of thinking and memory filing and this predisposes them to savant skills 🙂

Further to this another theory, supported by several neurological studies of savants, indicates that dysfunction in the analytical left hemisphere of the brain (responsible for logic, language, reasoning, maths etc) causes the right hemisphere (creativity, imagination, art, music) to compensate, which can cause savant skills to emerge. It’s kind of like the right hemisphere is giving the left a piggyback.

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In addition to savantism, higher IQ’s are sometimes linked to autism and Asperger’s syndrome.

A number of studies have found that some of the genes linked to autism development are also associated with high intelligence. The link between autism and intelligence is not yet clear, however, people who carry these genes scored better than those without on intelligence tests.

These findings create an interesting paradox given that autism is generally characterized by lower IQ’s. Researchers have proposed the hypothesis that autism involves augmented, but imbalanced elements of intelligence to counter this paradox. This basically means that autists have higher levels of intelligence in some areas (e.g. academia, mathematics, art etc.) but not in others (e.g. social intelligence).

So there we have it, just a quick over view of savantism and IQ in autism! 🙂

Enjoy the weekend everyone! 🙂

Aoife

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