What is autism and how is technology helping find a cure?

In the UK, there are around 700,000 people diagnosed with autism, and it touches the lives of an estimated 2.8 million people a day. In the US, this figure reaches more than 3.5 million people.

Autism is a lifelong disability that affects communication and the ability to understand others. Currently, there isn’t a cure or treatment that eradicates symptoms altogether, and government cuts have resulted in scarce support services, but there may be hope in the form of a new potential autism drug tested on mice in the US. 

Called NitroSynapsin, the drug is intended to restore an electrical signaling imbalance in the brain found in many forms of autism spectrum disorder (ASD). In 1993, a study identified a gene called MEF2C as playing a key role in early brain development. By disrupting this gene in mice, the animals were born with severe, autism-like symptoms. 

More recently, researchers from the O’Donnell Brain Institute in Texas discovered that stimulating certain regions of the brain had a similar effect on the severity of symptoms. By targeting an area in the cerebellum that has long been linked with ASD, the team found it could be manipulated to both produce autism-like characteristics, and reverse them. This region is known as the crus cerebellum I (RCrusI) and it has been found in post-mortems of people with ASD.

And while we look for a cure, researchers in Boston have used an algorithm to spot signs of autism and predict, or rule out, the chances of a child developing the condition from brain scans. Using the scans of 188 children, taken at various stages during their first three years, the algorithm predicted autism spectrum disorder (ASD) in patients by the age of nine months with nearly 100% accuracy. 

In the meantime, there is still a more immediate hope for people affected by autism, and it’s increasingly coming from the application of technology. The latest innovations are providing an alternative type of support to those on the spectrum and their families, helping them with communication, social skills and learning.

What is autism?

Autism is a lifelong, neurological condition that affects the way a person communicates and relates to others around them. It’s usually referred to as autism spectrum disorder (ASD) because it affects different people in different ways and is thus a very complex condition. Some people are affected severely, which means they’re non-verbal and are socially isolated and it’s as if they live in their own world. In fact, the word autism comes from the Greek word autos, meaning self.

Others are affected moderately and need regular help and support in their daily lives, while those with high-functioning autism, or Asperger’s Syndrome, are generally more able individuals, and some have even used the beneficial characteristics of autism to become highly successful in their chosen field.

Autism signs and symptoms

Behaviours indicating someone has autism vary by age, according to the NHS. In pre-school children, common signs are delayed speech development, frequent repetition of certain words or phrases, monotonous speech and choosing to communicate with only one word. Children this age also have poor spatial perception and don’t typically enjoy interacting with children their own age. 

Many of the signs of autism in school children mirror what occurs in pre-school childrens’ lives. For example, school children tend to avoid speaking and often speak in a monotone voice when they do communicate verbally. They also struggle in social situations with kids their age and avoid eye contact, misunderstand sarcasm and play in a repetitive and unimaginative way, often with objects and not people.

What causes autism?

The precise causes of autism are not known. Researchers recently discovered bees that consistently fail to respond to social cues and people with autism share genes most closely associated with ASD. This went some way towards uncovering the evolution of social behaviours and shows that, across the animal kingdom, we share genetic information that could point to how we think and act around others. In particular, it points further evidence to not only the genetic source of autism but also routes that can now be taken to find a cure. 

More recently, in research from the University of California, scientists used MRI to identify what the team calls “structural abnormalities in the brains of people with one of the most common genetic causes of autism.” In particular, the results showed some striking differences in the brain structures of people with autism compared to those without. The bundle of fibres that connects the left and right sides of the brain, for example, was thicker.

Other stark differences included larger-than-standard cerebellum, the bottom back part of the brain, toward the spinal cord, as well as decreased white matter volume and larger ventricles. These abnormalities can be spotted in the brains of people with autism and suggest signs of autism could be more easily identified from brain scans. 

“People with deletions tend to have brain overgrowth, developmental delays and a higher risk of obesity,” said study author Julia P. Owen. “Those with duplications are born with smaller brains and tend to have lower body weight and developmental delays.”

Is autism hereditary?

Studies have shown that having one child with autism is a “well-known risk factor” for having another child with the same disorder. This suggests a further genetic link and, more recently, a study claimed that a sibling’s gender can play a role.

Scientists at Harvard Medical School claimed their research had “quantified the likelihood” that a family who has one child with autism would have another based on the siblings’ gender.

Overall, the results, published in JAMA Pediatrics, revealed that having an older female child with autism increased the risk for younger siblings, and that risk was elevated in younger male siblings.  

“Our results give us a fair degree of confidence to gauge the risk of autism recurrence in families affected by it based on a child’s gender,” said author Nathan Palmer. “It is important to be able to provide worried parents who have one child with the condition some sense of what they can expect with their next child. That information is critical given how much better we’ve become at screening for the disease earlier and earlier in life.”

The challenges of autism

The challenges people with autism face are daunting. According to statistics from the National Autistic Society, 85% of autistic adults are not in full-time employment. Bullying happens to more than 40% of autistic children at school, more than 25% have been excluded from school, and 70% of autistic people have a mental health issue of some kind.

Life is tougher for autistic people, primarily because of the overwhelming lack of understanding and awareness of autism from the rest of society. Tony Attwood, a leading expert in high-functioning autism and Asperger’s Syndrome, says individuals with autism do not suffer from autism, instead they suffer from the ignorance of other people.

The best apps to help with autism

Autiknow

Technology for Autism Now is just one of the organisations harnessing technology to provide autism treatment and support. Marie Duggan, mother of an autistic adult, set up the non-profit organisation in 2009 to improve the lives of children on the spectrum and their families by providing them with beneficial technology.

One of its creations is Autiknow, an education app available on iOS. It uses images and symbols to teach autistic children how to be functional at home, at school and in their communities. At the same time, the app collects data on how users are learning, to help better understand the condition and find ways to offer alternative treatments. 

technology-for-autism-now-autiknow

“Technology is an excellent tool to facilitate the creation and use of visual and auditory supports, and collect performance data to help individuals with ASD [Autism Spectrum Disorder],” Marie Duggan told Alphr. “Furthermore, it makes it possible to amass databases for researchers seeking better treatments.”

The focus for Technology for Autism Now stretches beyond children of school age, however – the organisation also focuses on helping the increasing numbers of older sufferers who struggle with daily life. Duggan is confident that, in time, tech will be able to provide the friendly face that they need: “Early intervention is known to be critical, and the focus tends to be on school-aged children, but the tools we are developing will help persons of any age.  We envision Autiknow on a wearable device taking the place of a job coach, for example.”

SwiftKey Symbols

Communication can be a struggle for autistic people, and in some cases, those on the spectrum can be non-verbal. SwiftKey wants to help eradicate this problem with its symbol-based assistive communication app, SwiftKey Symbols. Launched in December 2015, it lets users communicate with others by constructing sentences made of pictures. What’s more, the app uses AI technology to predict what’s going to be said next.

swiftkey-symbols

“The communication opportunities that this app will provide are amazing,” Charlotte Parkhouse, a speech and language therapist who worked with SwiftKey on the development of the app told Alphr. “The flexible use of symbols will allow pupils with severe communication difficulties to express themselves in meaningful ways, and the predictive symbol function means that it can be truly personalised.” 

Jamie Knight is an autistic developer, and uses a number of apps to get by on a daily basis. To him, he says, technology is his lifeline. Speaking to Alphr, Jamie explained: “I am autistic and use lots of tech. At the moment, the biggest use of tech for me is around speech. I can’t currently speak so am using an iPhone app called Proloquo4Text to speak for me. Tech is literally my voice.

“I also use other forms of tech to support my independent living. For example, I use the chat platform Telegram to manage my support network and I use a number of custom iOS apps to store routines and instructions. I use calendars and other organisation tools such as Trello and Slack, too.”

Continues on page 2: How tech, robots and VR are playing their part

Lead photo by Xavier Lacot

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