Autism and Gene Mutation

Greetings Earthlings! πŸ™‚

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 πŸ˜› ).

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

Autism and Dyscalculia

Greetings Earthlings! πŸ™‚

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

So what exactly is dyscalculia?

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

So what causes dyscalculia?

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

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

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

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! πŸ™‚

Aoife

Autism in ‘I Used To Be Famous’

Greetings Earthlings! πŸ™‚

This week I’d like to talk about Netflix’s latest drama film ‘I Used To Be Famous‘ and an autistic character that appears in the film.

So what is the film about?

The film follows Vince (played by Ed Skrein), a former member of a famous boy band who has been struggling to make headway with his own electronic music since the dissolution of the band several years previously. One day while busking in the city, he happens upon a teenage boy who starts drumming a beat on a nearby bench in sync with his electronic stylings. The resulting music captures the attention of everyone around and a video of the incident goes viral online. As it turns out, Stevie is on the autistic spectrum and a passionate drummer. Vince tracks him down in a music therapy group for people with disabilities and proposes that they start a band together in his desperation to make it back on top, a move which changes both of their lives forever.

You can see a trailer of the film below:

So how was this films depiction of autism?

The writers have kept things simple in the film, choosing to make Stevie’s drumming abilities the main focus rather than his autism, showing us all that autism should never be a blocker to achieving your dreams. Now one of the great things about this film is that building on from Atypical, Netflix has cast an autistic actor, Leo Long, to play Stevie. Leo is a talented drummer with the London Youth Folk Ensemble and National Open Youth Orchestra, and a passionate advocate for making the music and film industries more accessible for individuals with disabilities.

It’s a heartwarming film with some great tunes to boot- perfect for a quiet evening in πŸ™‚

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend πŸ™‚

Aoife

Autism and Irlen Syndrome

Greetings Earthlings! πŸ™‚

This week I’d like to talk about a condition that impacts approximately half of autists- Irlen syndrome.

So what exactly is Irlen syndrome?

First defined in the 1980’s, Irlen syndrome (also known as scotopic sensitivity syndromeΒ (SSS) orΒ Meares–Irlen syndrome) is described as a difficulty in the brain’s ability to process images/visual information. It is not exclusive to autists as it also impacts roughly 15% of the neurotypical population. As 70% of the information we process is visual, the inability to process this information can have a serious knock on effect on our brains ability to function effectively, causing issues with reading, coordination, sensory processing, spatial awareness, and ADHD– all co-morbid issues associated with autism.

But what causes it?

Irlen syndrome is caused by hypersensitivity to certain wave lengths of light which can cause the brain to process visual information incorrectly. The exact mechanism is poorly understood, but the brain seemingly becomes overactive in response to light causing dysfunction. Interestingly, Irlen syndrome is classified as a pseudo-medical diagnosis as there is skepticism over it’s existence as a stand alone condition with a distinct pathology. Experts are skeptical of Irlen syndrome as there is a lot of overlap in symptoms from other conditions and they may be lumped in under one convenient heading.

But is there anything we can do to manage symptoms?

The Irlen method is the main treatment approach for the condition. Pioneered by Helen Irlen, the Irlen method is a non-invasive approach using coloured lenses to filter light and to improve the brains ability to process visual information. The lenses can be either worn as glasses or in contact form.

You can see the impact that Irlen lenses have on the brain here:

However, the efficacy of this method has been difficult to prove. In particular there seems to be little evidence to support their use to improve reading issues and dyslexia. That being said, many people have found great relief from using Irlen lenses, such as actor Paddy Considine who has both Asperger’s syndrome and Irlen syndrome.

As with all pseudoscience/pseudomedicine, take everything with a pinch of salt, but if you think Irlen lenses may help your issues with light sensitivity it’s worth a try!

Hope you enjoyed this post dear Earthlings! πŸ™‚

Have a lovely weekend!

Aoife

Autism and Hyperlexia

Greetings Earthlings!

Leading on from previous post about dyslexia, this week I’d like to discuss the phenomenon of hyperlexia and autism.

So first things first, what is hyperlexia?

Hyperlexia is a phenomenon where a child begins to read at a surprisingly early age beyond their expected ability compared with their peers. Onset is usually before 5 years of age, and the child tends to develop the skill without any training or prompting. It’s often described as a “splinter skill”- unique, but not very useful. It’s estimated that approximately 84% of those diagnosed with hyperlexia are on the autistic spectrum equating to between 6-14% of the overall autistic community.

There are 3 different types of hyperlexia:

  • Hyperlexia I– occurs in the neurotypical population where children learn to read at a very early age. This is usually considered temporary as their peers will eventually learn to read and catch up to hyperlexic children
  • Hyperlexia II– this is the form of hyperlexia that is most associated with autists. Beginning in infancy, hyperlexic autists are often obsessed with letters and numbers, tending to show a preference for books instead of other toys. Autistic hyperlexics also tend to have excellent recall for important numbers like phone numbers, dates and licence plates
  • Hyperlexia III– is quite similar to hyperlexia II, but the symptoms tend to decrease with time and disappear. Type III hyperlexics may have delays in verbal language and development like autists, but they tend to have remarkable skills for reading comprehension and excellent memory recall. However, unlike autists, these children generally have no issues with social interaction and anxiety

In my own experience, I’d say I probably had some mild hyperlexic tendencies as a child. I loved books- my mother couldn’t buy me enough to keep me entertained! As I’m sure I’ve told you in previous posts, my reading skills were so advanced at 6 years old in senior infants, my teacher from the previous year invited me to come and read to her junior infant class (4/5 year olds)!πŸ˜‚ I’ve always had an excellent memory and am pretty good at remembering dates, but as the experts say this skill isn’t the most exciting or useful- no point in donning a cape and calling myself a superhero πŸ˜›

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend πŸ™‚

Aoife

Autism on Screen- Sherlock

Greetings Earthlings! πŸ™‚

This week I’d like to take a look at autism in the popular BBC mystery/crime drama series ‘Sherlock‘ starring Benedict Cumberbatch and Martin Freeman (I know, I’m a bit late to the party on this show, but I only recently binged it during the pandemic πŸ˜› ).

So what’s Sherlock about?

The premise of Sherlock is fairly self explanatory- it’s a series based on the infamous Sherlock Holmes stories by Sir Arthur Conan Doyle set in modern day London. Holmes, a consulting detective, works closely with his friend Dr. Watson to solve mysteries and crimes across London by using Sherlock’s keen powers of observation and deduction in tandem with modern sleuthing technologies, giving Holmes’s story a contemporary edge.

Here’s a trailer of the series for those of you who have never seen it:

So how does autism tie into all of this?

There has been much debate as to whether or not the character of Sherlock has Asperger’s Syndrome. Many experts have theorized that he original character of Sherlock Holmes in the 19th century stories may have been displaying signs of autism decades before the condition was first characterized. Sherlock indeed displays many traits of Asperger’s- his powers of observation, his intellect and memory, obsession with his work, issues with sleep and drug addiction, mind blindness to social cues, his struggles with empathy, and moments of perceived sociopathy (some autists have been misdiagnosed as sociopaths) all tend to paint the picture of an autist. Moreover, the chief of police and Dr. Watson have even theorized that Sherlock may have Asperger’s.

You can find a video of some of Sherlock’s best bits in the show at the link below:

https://fb.watch/eIYlHsMlKw/

However, this depiction has not been without it’s critiques. It has been argued that this depiction of Sherlock as a superhuman intellect with sociopathic tendencies is damaging for the autistic community as this is a negative, somewhat romanticized and simplistic portrayal of the condition that can mislead the public in their perceptions of the condition (although let’s face it- 90% of autistic characters recycle the same traits and rarely give us an insight into the variety and complexity of the neurodivergent population πŸ˜› ). The autistic community on the whole however, has mainly been supportive in claiming Sherlock as one of our own as many relate to Sherlock and feel seen in Cumberbatch’s portrayal.

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! πŸ™‚

Aoife

Autism and Dyslexia

Greetings Earthlings! πŸ™‚

This week I’d like to take a look at another neurological condition that can be co-morbid with autism- dyslexia.

First things first, what is dyslexia?

Dyslexia can be described as a specific type of learning disability that impacts a persons reading, writing and spelling abilities. Impacting approximately 10% of the population, dyslexia ranges from mild to severe characterized by cognitive difficulties with processing phonetics, working memory and speed of long term memory retrieval. Like autism, the exact neurological causes and mechanisms are unclear, but as dyslexia can run in families, genetic factors are largely thought to contribute.

So how is it linked to autism?

The link between autism and dyslexia has not been scientifically established, but there are some commonalities. Interestingly, dyslexia overlaps with many autistic co-morbidities such as ADHD, dysgraphia, dyspraxia (an estimated 52-53% of dyslexics are also dyspraxic), and auditory processing disorders, which would suggest that these conditions likely operate through similar neurological mechanisms and pathways.

Scientists have found it difficult to establish a direct genetic link between the two conditions, however, recent research may implicate gene deletions in CNTNAP5 (a gene involved in connecting neurons)  and DOCK4 (a gene that regulates junctions between cells) in both dyslexia and autism. In addition to this, a 2015 study found that declarative memory (the type of memory that can be “declared” like names, facts, figures etc.) can be used to develop coping mechanisms for both autism and dyslexia, suggesting that perhaps there may be overlap in the brain regions associated with this type of memory formation. Other studies exploring the neural mechanisms of dyslexia indicate structural changes in such regions as the frontal lobe (memory and problem solving), cerebellum (the motor centre) and corpus callosum (the bundle of nerves that splits and connects the left and right hemispheres of the brain)- all areas that have also shown structural changes in studies of the autistic brain.

Most recently, a 2021 study exploring the co-occurrence of dyslexia and other neurodevelopmental disorders reported that many dyslexic patients in their dataset also had issues with sensory processing and other ASD traits, but concluded that the links between the two conditions are complex and hard to underpin, especially given that some autists are hyperlexic (guilty!) rather than dyslexic.

Whilst there is no definitive scientific link, the overlap cannot be denied.

Hope you enjoyed this post dear Earthlings! πŸ™‚

Have a lovely weekend!

Aoife

Autism in Stranger Things?

Greetings Earthlings! πŸ™‚

Following the recent release of Netflix sensation ‘Stranger Things‘ Season 4 Vol., this week I’d like to discuss a possible autistic character that many fans have been discussing online since the season dropped (don’t worry- I’ll keep this spoiler free!).

So before I get into discussing this character, what’s Stranger Things about?

For those of you who may not have heard of Netflix’s all time most streamed TV show, Stranger Things is an 80’s nostalgia sci-fi/horror/drama series set in the fictional town of Hawkins Indiana. Secret government cold war experiments exploring psychokinesis have ripped a portal to an alternate dimension filled with monsters called the ‘Upside Down’, leading to a series of mysterious events in Hawkins which a young group of pre-teens set out to investigate after their friend Will disappears.

Now back to autism.

In the most recent series, one of the new characters introduced in the last season, now appears to be showing a lot of neurodivergent traits- Robin Buckley, played by Maya Hawke (daughter of Hollywood legends Uma Thurman and Ethan Hawke).

Robin is a highly intelligent high school student that befriends the main Stranger Things gang in season 3 when Russian scientists build a portal to the Upside Down in a secret lab beneath the mall that she works at. Described as “an alternative girl” when her casting was first announced, Robin has certainly captured the attention of autistic viewers as her character has developed in season 4. Throughout the season, Robin has been very quirky, exhibiting no filter and rambling constantly about random topics, but can also be quite easily distracted, suggesting that like many autists she has ADHD.

She mentions that she has no grasp of social cues and has awful coordination, claiming that she took 6 months longer to walk than the other babies which she says was not normal. Robin also claims to be a terrible liar and regularly addresses her weirdness and tendency to inadvertently come across as mean or condescending, constantly asking her friends if she is being annoying.

During one particularly memorable scene, Robin, a notorious tomboy, is dressed up in tight frilly clothing which she constantly complains about, arguing that the borrowed outfit is itchy, the bra is pinching her, and the blouse is strangling her, which could suggest that sensory sensitivities could be driving her penchant for baggy clothing.

Most autistic fans did not notice much in the line of neurodiversity in season 3, but other keen eyed viewers have noted traits prior to season 4 citing her ability to hyperfocus, her memory, her ability to connect dots the others can’t, her blunt truth bombs and that she is a member of the LGBTQ+ community (which a large proportion of autists are). Robin also remarked in season 3 “I feel like my whole life has been one big error“, a sentiment that many an autist can relate to. It could be argued that perhaps now that Robin is part of the gang, she is far more relaxed and doesn’t feel the need to mask as much as she did in season 3.

Whilst it is highly unlikely that Robin will have an autism story-line given how poorly understood autism was in women during the 1980’s, nevertheless it’s always nice for autistic fans to feel seen when watching our favourite shows. It will be interesting to see how her character develops in season 4 vol 2 and beyond!

Hope you enjoyed this post dear Earthlings!

Have a lovely weekend! πŸ™‚

Aoife

Autism and Brain Zaps

Greetings Earthlings! πŸ™‚

Leading on from my previous post about autism and anxiety, this week I’d like to talk about the phenomenon of brain zaps which autists may experience.

So what exactly are brain zaps?

Brain zaps (also know as brain shakes/shocks/shivers/flips) are a poorly understood phenomenon where it feels as though the brain is undergoing an electrical shock or a shaking/shivering/vibrating sensation. I personally have experienced these from time to time as a vibrating sensation in my brain, where it feels like your brain is literally shaking in your skull. Others report that it feels like a zap has gone off in their head and they can hear a hissing or a ringing sound in their ears. In some cases people experience bursts of light and can feel faint and disorientated afterwards. They are not harmful to the brain but they can be distracting and uncomfortable, especially for autists who are already sensitive to sensory stimuli.

So what causes them?

Like many neurological sensations, they are somewhat of a mystery, but they generally tend to occur in response to withdrawal or missed doses of certain drugs such as anti-depressants, ecstasy and MDMA, and medications for anxiety and ADHD – many of which are prescribed for co-morbid mental health conditions in autists. As these drugs alter levels of key calming inhibitory neurotransmitters such as serotonin and GABA (levels which are naturally dysregulated in the autistic brain), it is thought that low levels of these neurotransmitters may cause over-excitement in the brain, leading to abnormal firing between the neurons causing localized minor seizures i.e. brain zaps.

Don’t be alarmed by the term seizure here- this theory has not yet been confirmed and there is no evidence that brain zaps have a negative impact on our health.

On the other hand, brain zaps can also occur in response to high stress and anxiety. When you experience chronic stress, the brain is hyperstimulated as your worries swirl round and around in your restless mind. Completely overworked and overexcited from stress, your neurotransmitter levels fluctuate causing lower levels of calming GABA and higher levels of glutamate- the primary excitatory neurotransmitter. Such changes may over-excite the brain resulting in a localised seizure/brain zap as described above. Autists may be particularly susceptible to brain zaps in this manner as we experience higher levels of biological stress than our neurotypical peers, not to mention that our neurons are naturally hyper-connected, our neurotransmitters dysregulated and our brains hyperstimulated as a result.

Interestingly, a recent study has suggested that lateral eye movement may be a triggering factor for brain zaps. This is particularly intriguing for autists as evidence suggests that we process most visual information in our periphery, so our natural inclination to avoid direct eye contact could trigger brain zaps.

There are no treatments for brain zaps, but while they may not be the most pleasant sensation, they are generally nothing to be worried about and can be mitigated with proper management of stress and your prescribed medications.

Hope you enjoyed this post dear Earthlings! πŸ™‚

Have a lovely weekend!

Aoife

Autism in the Eurovision Song Contest

Greetings Earthlings! πŸ™‚

This week I’d like to talk to you about one of my specialist interests- the Eurovision Song Contest, as this year one of the entrants is on the autistic spectrum! πŸ˜€

So, first things first, what exactly is the Eurovision Song Contest?

The Eurovision Song Contest (ESC) is an annual international songwriting contest organized by the European Broadcasting Union (EBU) that was first established in 1956 as a means of bringing divided European nations together through music in the wake of World War II. Originally, only 7 countries participated, but over the years musicians representing 52 countries have competed across Europe, Israel and Australia (don’t get me started on the logic for that one…)

Each participating country submits one original song under 3 minutes in length, and performs the song live on stage to the world, competing to win a trophy and the chance for their nation to host the contest the following year. There are two semi finals and one grand final, all held over one week, usually in May. The voting is a 50/50 split from audience televotes and panels of industry experts from each participating country.

For those of you who are unfamiliar, Eurovision is very popular in Europe with an average annual audience of just under 200 million viewers. Over the years it has grown from a simple song contest to a huge spectacle with elaborate staging and often crazy performances from bread baking Russian grannies, to metal monsters, dancing drag queens, to flapping puppets (sorry again for that one Europe!), to powerful songs that unite us and capture the hearts of an entire continent.

Eurovision has also brought many acts to worldwide fame such as ABBA (Sweden 1974), DaΓ°i Freyr (Iceland 2020/2021), Riverdance (Eurovision 1994’s interval act), CΓ©line Dion (Switzerland 1988) and most recently MΓ₯neskin representing Italy in 2021. A host of other established acts have represented their countries (or failed to do so) over the years, including Cliff Richard (UK 1968/1973), Julio Iglesias (Spain 1970), Enya (Irish song selection 1973), Olivia Newton John (UK 1974), Katrina & the Waves (UK 1997), Bonnie Tyler (UK 2013), Cascada (Germany 2013), Darude (Finland 2019), The Rasmus (Finland 2022) and even Elton John and Bernie Taupin wrote a failed song for Lulu in 1969 (who won with a different song that year) for the UK national selection! My native Ireland retains the title of most all time Eurovision wins (7 in total, including 3 years undefeated between 1991-1994), so naturally Eurovision was a big deal when I was growing up πŸ™‚

We get it, you love Eurovision Aoife, so where’s the autism link?

This year, the Australian delegation (we’ll let the geographical issues slide for a few paragraphs) are sending autistic singer Sheldon Riley to the contest in Turin, Italy with his song ‘Not The Same‘ where he talks about his struggles in life, and particularly his struggles growing up with Asperger’s Syndrome. You can check out the song here:

Diagnosed at 6 years old, Sheldon was told that he would never be “normal”, that he would never achieve his dreams, never have a job, friends or a romantic partner. Instead, he has defied the odds and went on to compete in several song competitions in Australia in addition to America’s Got Talent. As part of his stage persona, Sheldon incorporates elaborate crystal masks into his performances to hide his face to allow him to focus on his singing as he often feels judged for his appearance, a shield to allow him to perform, taking autistic masking to a new level. With his participation in Eurovision however, Sheldon finally feels confident to start ditching his mask to embrace who he really is. You can also hear Sheldon talking about his experiences of autism to BBC in the video below:

Sheldon isn’t however the first autist to take to the Eurovision stage. In 2015, Finland sent the rock band Pertti Kurikan NimipΓ€ivΓ€t comprised of disabled musicians with Down Syndrome and Autism. To this day it holds the record for the shortest ever song performed at Eurovision:

On another level, Greta Thunberg’s mother, Malena Ernman, who is an outspoken advocate for autism awareness, represented her native Sweden in the Eurovision in 2009!

Whilst these are the only confirmed examples of autists competing in the Eurovision, it’s quite possible that other past artists may also have been on the spectrum (knowingly or otherwise) but they have not revealed their diagnosis.

Fun Fact– yours truly contributed to last years 4th place Icelandic entry as part of an online virtual choir of 1000 fans, so you could say that one other autist has appeared on the Eurovision stage (in a roundabout way πŸ˜› )

Hope you enjoyed this post dear Earthlings! πŸ™‚

Have a lovely weekend and enjoy the competition tomorrow night if you’re watching!

Aoife

Blog at WordPress.com.

Up ↑