Experiments reveal early signs of autism
27 April 2017
It is not currently possible to make a diagnosis of autism before two years of age and there is no effective treatment for its core symptoms. This is the starting point of the “Younger Siblings Project”, which is the first study of younger siblings of children with autism to be conducted in the Nordic region.
“Today, we can diagnose autism at two or three years of age with a relatively high degree of certainty,” says Terje Falck-Ytter, “but it is difficult to diagnose earlier than that. However, we hope that if we can see the first signs, we can get a clearer picture of what autism is.”
Falck-Ytter is one of the researchers at Uppsala Child and Baby Lab, which is part of the Department of Psychology at Campus Blåsenhus. The lab investigates the psychological development of very young children, and in this particular study, the researchers are looking for early signs of autism.
“The idea is that the earlier we can detect it, the clearer picture we will have of the course of development,” says Falck-Ytter. “There is no effective treatment today and that is why it is also very important to get a better understanding of what autism is. The long-term goal is better, early intervention for children with autism or who are at risk of autism.”
Before the researchers can test different hypotheses about treatment and early intervention, they need to understand more about how autism works.
“What we’re doing right now is creating understanding,” says Falck-Ytter, “but also establishing what could be powerful early intervention. What abilities should be practised? That’s one important practical goal.”
Terje Falck-Ytter is a psychologist at heart. He started out by studying infants and their development, but later obtained a combined position where he could work helping to habilitate children with autism while also researching.
“As I was finishing up my PhD,” he says, “I realised that Sweden was completely lacking in this type of research, where you take in children at risk of autism and monitor them over time. There was no one doing it in Sweden or in any of the Nordic countries, so we sought funding for it.”
This was the start of the “Younger Siblings Project”. At first, the project only dealt with autism, but later the group received renewed funding to also study younger siblings of children with ADHD and language disorders.
“Of course, most younger siblings develop normally, but there is an increased probability of them also being diagnosed,” says Falck-Ytter. “It’s not that if you have an older sibling with autism you can only get autism. You also have an increased risk of related conditions such as ADHD. Many genes seem to be linked to several neuropsychiatric diagnoses, and there are no firewalls in between.”
At Uppsala Child and Baby Lab, several different methods and techniques are used to measure children’s psychological development. One way, which Falck-Ytter has used extensively, is to measure eye movements.
“Our eyes scan our environment all the time,” he says. “We move our gaze about three times a second. This gives you an enormous amount of data on how a child interacts with their environment.”
There are two things that interest the researchers. One is how the child takes in and selects information, which influences their brain and development. The other is that what the child looks at also affects other people.
People pay attention to different things they hear, too, but no one notices that. But the gaze of another person can be seen, and what a person is looking at greatly affects the people around them.
“It’s a social signal,” says Falck-Ytter. “Children who choose to not look much at other people not only miss out on information but also create completely different environments.”
Eye movements can be measured in two ways. One is to look at where the child is looking when images are displayed on a screen. Another is for the researcher to sit opposite the child, hold up different objects and monitor the child’s eye movements.
What happens, for example, when a one-year-old sees a funny light start to blink next to the person across from them, without that person seeming to notice it? Most children try to call the person’s attention to it with their eyes, but children with autistic traits are not as interested in social interaction.
The general pattern is that children with autism do not meet the other person’s gaze, but in actuality the differences are not so clear in young children. Yet by studying eye movements, you can detect more subtle differences, says Falck-Ytter.
“One thing that we have seen in the study is that if you take measurements over a long period of time, children with autism look at other people’s faces for the same length of time as other children. But if you measure immediately after another person looks at them, they are not as quick to notice it and look at the person. It’s subtle and you might not see it with the naked eye, but it’s about how quickly they notice social signals.”
In addition to eye movements, the researchers also measure brain structure and activity. They use MRI, in collaboration with Karolinska Institutet, to measure brain structure and activity during the child’s natural sleep. They also take EEG measurements using a cap of electrodes that measure brain activity. The researchers additionally measure the child’s motor skills development by putting markers on them and monitoring their movements using a camera.
“Overall, the study uses a lot of experiments that test different hypotheses and questions about what characterises children early on,” says Falck-Ytter. “But then we meet them again at age two, three and six to find out how things have gone for them – which children have been diagnosed with autism, which have language disorders, which have nothing at all? Once we know the answers to these questions, we can go back and check what differences there were in our earlier examinations.”
The study has been in progress since 2011 and is funded until 2022. Falck-Ytter believes that a lot of new knowledge about autism will come to light in the next few years, but you have to have patience when you’re building up such a big study.
“It’s better if you can wait a year and collect more and better data,” he says. “We want to produce results that last.”
So far, about 150 children are participating in the study. Each child is examined on seven different occasions from five months to six years of age. Each visit takes one day, each child meets two people, and a total of 10–15 people are working in the project. This means that, as project manager, Falck-Ytter has quite a lot of logistical problems to solve.
“I really have to stretch my abilities in different directions, but it’s been extremely instructive,” he says. “It feels really good to have been part of building up the first study of this type in the Nordic region.”
Finding volunteers to sign up for the project is something of a challenge, though many families appreciate being able to contribute to the research (see fact box).
The researchers sometimes discover autistic symptoms in a child and advise the parents to contact habilitation services. Already, the researchers know that a minority of the children in the study have autism.
“This means that there is a huge variation in the group,” says Falck-Ytter, “both in how things go for them and in how they behave when they are little. I believe that we will come up with lots of interesting ideas in the next few years. It will be exciting to see.”
Heredity and autism
- It is generally accepted that genetic variation accounts for about sixty per cent of the risk of developing autism. This means that there is quite a lot left to explain as concerns environmental factors.
- Twin studies indicate that it is primarily unique environmental factors that affect only one person, and not environmental factors shared within a family, that are significant.
- The primary risk for younger siblings in the study is thus shared genes, as unique environmental factors do not affect them more than anyone else.
No effective treatment
- Autism is a congenital neuropsychiatric disability that affects both cognitive and emotional functions, with symtoms including limitations in social and communicative behaviour as well as clearly repetitive behaviour.
- The treatments available do not treat the core symptoms, but rather other symptoms associated with autism, such as outbursts and fears. There is still no effective treatment for the core symptoms.
Quotes from parents
Quotes taken from a survey conducted in the project:
“It feels very positive that [me and] my child can contribute to research. Knowing that it could also lead to early detection of an ASD [diagnosis within the autism spectrum] makes it even more valuable.”
“We’ve appreciated being able to discuss and reflect on our child’s behaviour.”
“Some observations have increased our concerns about our child’s development. Overall, it has felt good to participate in the study.”
“Win-win situation because we get a thorough examination of our child and can then put our worries aside and trust that you will let us know if you find anything abnormal, while at the same time, we are also contributing to research.”