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.

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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

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

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

 

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

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

Autism 101- Intro to the Spectrum

Greetings Earthlings! 🙂

Apologies to anyone who got an email yesterday- my computer had a moment and hit publish with only two lines written! 😛

Today I’m going to discuss some of the basics of autism to better acquaint you with the condition. As a scientist, I’ve read my fair share of research papers on the subject…

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…so I’ll try my best to break it down! 🙂

Autism is defined as a pervasive neruodevelopmental disorder.

“What on earth is that?!” 

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This simply means that autism is a disorder that impairs the normal growth and development of the brain resulting in a wide range of effects throughout the body.

Simple enough 🙂

Autism is thought to impair the development of the brain in areas associated with social interaction and communication, however, some studies suggest that the disorder may in fact affect the entire brain.

So how do these impairments manifest?

Typically, people with autism show deficits in three main areas:

  • Social communication
  • Social interaction
  • Social imagination  (this basically means that we struggle to predict the reactions of others, understand abstract ideas, imagine situations outside of daily routine etc).

These are known as the ‘triad of impairments’. There is also a fourth area of impairment describing struggles with sensory processing (touch, sound, light etc.), but ‘tetrad’ doesn’t quite have the same ring to it!

Each autistic person has their own unique blend of symptoms ranging from mild to severe (there’s FAR too many to detail in this post alone). No two individuals with autism are the same.

Forget about the stereotypes- if you’ve met one, you’ve met only one.

Here’s a little schematic I threw together showing how symptoms can vary using academic ability as an example:

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Such variations led to the catch-all concept of the autistic spectrum.

Everyone exhibits some autistic traits (my friends have remarked that the more traits I describe the more they think they have autism! 😛 ), but it is when you exhibit a high number of these traits that you are diagnosed with an autism spectrum disorder (ASD). For example, the average person scores ~15-17 out of 50 on the autism-spectrum quotient test, whereas the average autist scores 35 (I scored 38…!).

There are currently four separate ASD’s listed on the spectrum– Asperger’s syndrome (yours truly!), autistic disorder, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified (PDD-NOS). I’ll write separate posts about these in due course 🙂

So what actually causes autism?

In truth- we don’t know for sure!

Most evidence points to a genetic cause as autism can be hereditary, but there has been no one autism gene isolated. As autism operates on a spectrum, it’s likely that there are numerous factors at play in each ASD. The current thinking is that lot’s of smaller gene mutations combine to cause autism. Like the X-men launching an attack! 😉

As interesting as the science of autism is however, it can’t really explain the experience.

The easiest way to explain it I find, is to consider Supergirl.

Supergirl is an alien from the fictional planet Krypton. The elder cousin of Superman, she arrives on Earth as a teenager, a stranger in a strange land.  She looks like a human, talks like human and for the most part acts human, but Supergirl does not see the world as a human does; she perceives the world as a Kryptonian. When she first arrived on Earth, Supergirl had to learn to blend in. She would have struggled to learn our customs, sayings and social ways, all the while concealing her true alien self lest she be ostracized, just as I’ve had to do.

That’s what autism feels like- being an alien from another planet. What’s normal for you seems weird to the rest of the world. Social rules confuse you, you interpret things differently and find yourself spending much of your time hiding your quirks from sight.

As I’ve discussed in previous posts however, the autistic experience, while different, is not necessarily bad. With different perspectives and brain chemistry come different abilities. Like Supergirl, many of us have unique gifts and talents to share.

I can’t say that I have laser eyes or the ability to fly like her, but I am pretty handy with a set of knitting needles creating patterns off the top of my head! 🙂 Knitting was a struggle for me at first- I was the WORST in my class for years, but one day it just clicked! Something I was once terrible at could now be considered a superpower of sorts!

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This is one thing that I’d like to emphasize in these blogs- struggle. You’ll find that I will never use the word ‘can’t’ in relation to autism.

In these posts, I want to highlight that yes, autism is a struggle- life can be bloody hard at times; but just because we struggle, does not mean that we are not capable, or that we should be treated as such.

I have struggled with many things in life- learning to drive, knit, dance, tying my shoelaces etc.Yes, indeed I struggled, but that didn’t mean I wasn’t capable, it just took me a little bit longer. Like Supergirl, the struggle passes and you learn to adapt.

The hardware in our brains may be a little different, but with software updates, patches and a little patience, we can learn to function as well as any other computer 🙂

Aoife

PS- For the budding writers out there struggling with writers block as I did this week, shopping helps! 😉

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