Unlocking the secrets of autism

From a beckoning index finger or slight tilt of the head to an expectant facial expression and direct eye contact, there are many ways that you can signal for a child to walk towards you.

Our social world is so full of these subtle signs that our brain barely registers the huge number we receive in a day. Rather, we react to them automatically, as if speaking an inherent language.

For about one in every 88 children, the ability to recognise these non-verbal signs of communication is not in-built – they don’t understand the language. In fact, for these people, the process of interpreting and then responding to a sign can be overwhelming, frustrating and confusing. When this is the case, they’re said to have a lifelong developmental condition called autism spectrum disorder.

Professor Adam Guastella is a senior clinical research fellow at the University’s Brain and Mind Centre. He has studied autism spectrum conditions for more than 10 years.

“When I first trained as a psychologist in the mid-1990s there was a view that there wasn’t much you could do for autism,” Professor Guastella remembers.

Early intervention and therapies can dramatically improve outcomes for people with autism, and these approaches were common at the time. However, any sort of medical treatment targeting social behaviour was uncharted territory.

Fast forward to 2015 when a breakthrough trial challenged that view. Professor Guastella and a team of researchers at the Brain and Mind Centre undertook a clinical trial with 31 autism-affected children aged between three and eight. The team used a nasal spray to administer a synthetic version of a hormone called oxytocin.

During childbirth, oxytocin is the hormone that signals the womb to start contracting, and it’s often used to artificially stimulate the child birth process. But it has another function. Oxytocin promotes mother-child bonding, and for humans in general, it underpins emotional bonding and social connection – processes that people with autism find difficult to navigate. Together with the Co-Director of the centre, Professor Ian Hickie, the researchers undertook the five-week trial using a crossover design; meaning that, at times, every child also received a placebo.

The results were encouraging. About one in three of the children benefited from the oxytocin treatment. The parents were overjoyed. One said: “It’s helped my child to bring things together and to make sense of things to respond more accurately.” Another said: “My child is able to put things together so much more effectively than before.”

Autism is a mysterious condition. Despite what might be said in parliament or circulated on social media, there is one certainty – autism is not caused by vaccinations. What actually does cause it is still unknown, except for some strong indicators that it is genetic. In the 1950s and 1960s, they had other ideas. Autism was about parental coldness that caused the child to withdraw. The term “refrigerator mother” was directed at households that were struggling to raise children who might have some very challenging behaviours.

Emerging in the early years of a child’s life, the first sign of autism might be delayed language, with about 40 percent of children never speaking at all. People with autism commonly have a strong preference for set routines and dislike change. They can also have repetitive behaviours or develop obsessive interests and become highly skilled or knowledgeable in a niche subject. Autism is four times more common in boys than girls, which again suggests a genetic link.

With that being said, autism expresses itself differently in every individual. “I think of autism as three-dimensional,” says Professor Guastella. “While about 40 percent of people with autism have an intellectual disability, there are others who struggle with understanding others’ emotions. And still others who might have emotional regulation issues where, for example, there’s a new environment or new stimulation. That in itself has its own spectrum.”

Today, the very definition of autism is evolving to encompass conditions like Asperger’s syndrome, which used to be seen as similar, but separate. People with Asperger’s don’t have childhood language issues and in fact can be highly articulate from a young age. Even though they might be gregarious by nature, it can be hard for them to ‘fit in’. They also have obsessive qualities.

For one man, this meant an 'obsession' with ghosts and law enforcement, which led to the creation of the blockbuster, Ghostbusters. Writer and star of the 1984 film, Dan Aykroyd, has spoken about his Asperger’s diagnosis, though today he would instead be said to be on the autism spectrum.

Many prolific artists and groundbreaking scientists throughout history were thought to have been on the autism spectrum, including Michelangelo, Stanley Kubrick, Mozart and Albert Einstein.

While the expression of autism varies from person to person and within different contexts, research shows that the right environment and support can make a world of difference. This is another area of research for Professor Adam Guastella and the team at the Brain and Mind Centre. They see people from age two to 50, with a view to minimising the social effects that their autism has on them. Trying to find new approaches is how Professor Guastella started to consider oxytocin.

“As a trained psychologist I was doing a lot of psychological therapies such as cognitive behavioural therapy,” recalls Professor Guastella. “I was interested in the neurobiology of social learning so I started reading a lot more about oxytocin. At the time a psychologist looking into animal and nursing data was unheard of.”

With numerous trials over almost a decade, Professor Guastella and his team developed a body of research that showed oxytocin could increase eye gaze, the encoding of social memories and emotional recognition.

It is still early days for the oxytocin treatment, with key questions still to be answered. For example, why did the trial work for some children and not others? Upcoming clinical trials will look for an answer. One will see if oxytocin’s effectiveness would be improved by administering a potentially more effective oxytocin stimulant through subcutaneous injection. Another will put a marker on the oxytocin molecules so researchers can track each individual molecule to better understand areas of the brain to target.

Professor Guastella is eager to make progress. “What makes me excited is that we’ve been able to take something that was a theory and turn it into what could be a first, actual treatment for autism.”

Looking for volunteers

Professor Guastella and his team are looking for men with autism, aged 18 to 65, to take part in studies. For more information about the studies and selection criteria, please contact the research coordinator at med.actr@sydney.edu.au or +61 2 9351 0808.