"I believe that within a decade we will have markers to detect ASD in six-month-old babies."

"It's difficult to have a single answer for this increase; there are many reasons, but some factors stand out. First, the term autism spectrum disorder (ASD) covers a very wide range of symptoms, and it's a diagnosis that has expanded considerably . In the 1940s, when autism was defined, it referred only to a disorder with very severe symptoms, but over the years, the diagnosis has broadened to include people with less severe symptoms. Some time ago, we had the term Asperger's syndrome, used in cases of people with autism who had a normal IQ and no language impairment, but this diagnosis fell out of favor in favor of ASD, which includes all affected individuals, from those with severe to those with less severe symptoms. So the range has expanded considerably. Furthermore, we are better at understanding who has ASD within the broader group of people with intellectual disabilities . So they have also been included."

On the other hand, it is possible that the number of people affected by ASD has increased, although it is very difficult to know why. One factor, for example, although we don't know its exact role in this increase, is that many people have ASD due to a genetic mutation . These mutated genes lead to an alteration in brain function that causes autism. This mutation is not inherited from the parents, but rather occurs at conception. These mutations, which we call de novo, are present in the sperm or egg. This mutation accumulates in the sperm or egg as the father or mother ages. Considering that families in most Western countries are now starting later than they were 50 years ago, and therefore parents are older, we can see the increase in this mutation. The older the parents are, the greater the risk of this mutation being present. This is true, but it is difficult to know what percentage of new cases of ASD are due to this cause.

On the other hand, there are environmental factors that weren't present 50 or 100 years ago. This increases the risk somewhat. They may not be major risks individually, but we have to consider that all these small risk factors combined are what may ultimately lead to more cases of autism spectrum disorder (ASD).

What is very clear is that everything that causes autism happens in the prenatal phase. In this sense, the scientific community believes that you are born with autism ; it is not something acquired after birth.

" Research has confirmed that there are different types of ASD . I like to draw an analogy with what used to happen with cancer, where as soon as someone knew they had cancer, they just thought they were going to die and little else. Now, however, we know that, although there is a common basis, there are many types of cancer caused by very diverse factors, and these must be addressed in different ways."

Research at the MIND Institute, along with international research, has shown that there are different causes for autism . Some are genetic, but there are other impactful factors such as environmental factors or the activation of the immune system in pregnant women, which we know also plays a role in producing some forms of autism.

Over the years, we've discovered many things about autism that help us develop more specific therapies for each type . Our goal isn't to cure autism per se . We could say that autism is, in some ways, like a personality trait; the problem is that it comes with associated challenges that can be very debilitating. The goal is to define different therapies for the different types of autism so that, instead of trying every type of therapy, we can recommend the best treatment for each child.

Evidence-based treatments for autism spectrum disorders

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In this search for the differences between the types of ASD, for example, we know that brain development differs in the various types of autism. Fifteen percent of children with ASD have a brain that is disproportionately large compared to their body size. This abnormal growth causes problems with brain function, and these children often experience more severe symptoms such as intellectual disability, nonverbal communication, and limited development, even with therapy.

Another area of particular interest to me is the presence of anxiety in people with ASD. We've found that nearly 70% of people with autism experience significant anxiety . Years ago, this anxiety wasn't even considered or treated, as it was interpreted as simply part of the disorder itself. What we're trying to do is what we call precision medicine . That is, we're trying to understand why something isn't working and then treat it with a precise intervention. We analyze which children have anxiety and what the best treatment or intervention is. It turns out that, in the case of medication, the drugs used to treat anxiety in the general population don't work for people with ASD. We haven't found a solution yet, but that's our goal.

The same applies to sleep problems or epilepsy , which can affect up to 20% of children with ASD, but I would say I am optimistic because we have made a lot of progress and specialists now have treatments available to address these issues.

The good news is that there are some treatments, such as the Early Start Denver Model (ESDM) , which are behavioral therapies, that work for a very high number of children with ASD. The ESDM is designed to try to improve children's communication skills and their ability to participate in daily life.

"There are many projects, but I would highlight the The Autism Phenome Project (APP) aims to identify and describe the different types of Autism Spectrum Disorder (ASD) by following the entire life cycle of the individuals with autism who participate in the project. Since 2006, we have been studying over 400 families who joined us when their child was diagnosed (at 2 or 3 years old) and we follow them through different stages. We now have teenagers and some preparing to enter university.

We try to monitor the different types of ASD to find out, on the one hand, what type of autism each child has, understand its evolution over the years (whether it improves or worsens) and what factors are linked to this evolution.

We are also working to understand why a small percentage of children, on the contrary, worsen over time. It's a complex issue because there's also the factor of the "camouflage effect" in girls . A high proportion of girls improve over the years compared to boys. The reason, in part, is that girls are better at detecting social cues and are more aware of what is expected of them. Even if they have autism, they learn to do what is expected of them by pretending to be someone they are not. We also observe that many of these girls who improve over time suffer from high levels of anxiety and other disorders such as depression.

Ultimately, we are trying to map the life expectancy of people with ASD to see what happens at different life stages, and what factors can improve or worsen the quality of life for different individuals with the disorder. This project gives us the opportunity to accompany them into adulthood and old age, and I hope my colleagues will continue to investigate because there are questions we cannot answer without this type of research. For example, we know that people with ASD have a shorter life expectancy than people without ASD, but we don't know why. There is also very little information about why people with ASD develop more neurological diseases such as Parkinson's.

"It's very important to start therapy as early as possible. Children begin therapy at 3 or 4 years old, but we can't forget that the brain develops very rapidly in the first six years of life. Take, for example, a child who might not speak. With very early intervention, their ability to communicate, even if only slightly, could be increased, allowing them to interact with their parents and siblings, as well as begin the social process of interacting with other people. It's a snowball effect. Language ability originates in the brain, but at the same time, that ability modifies how the brain functions. It's what sets in motion all the other improvements in functioning, and it's something that can't be done when you're 7 years old, for example."

It is very important for the child to interact with society, to the point where they can attend regular school and learn from other children. Therapy based on the Denver Model (ESDM) aims to improve social communication, and that allows the positive impact to begin.

I am very optimistic that, within a decade, we will have markers to detect ASD in six-month-old babies . We know, for example, that an MRI scan already shows that the brain of a six-month-old child with ASD is different from other children. There are no behavioral differences, but that child's brain has already begun to change. Currently, it is difficult to perform MRIs on six-month-old children, and general population screening would not be possible, but other strategies are being developed. One example is the eye-tracking test, which is a diagnostic test for one-year-old children. Recently, a diagnostic device developed by MRI University was also authorized in the United States that can predict a child's risk of developing autism in the first months of life.

We're working on other studies where we analyze blood to find out if there are any blood markers. We still have a lot to do, but we just submitted a publication explaining that we can predict about 70% of children who will have ASD by 18 months. I think that if we can detect it at 18 months, perhaps we can get ahead by a few months.

"Collaborative work has been the key to success at MIND Institute, which was created by parents of children with ASD who asked us to find out what could be done to lessen the difficulties their children face. I think we've done a good job developing collaboration with the community. We have a very good relationship with the families, and we couldn't do any of this research without them. They're willing to come for several days each year, bring their children, answer multiple questionnaires, and so on. On the other hand, it's also been important to have people with different backgrounds: psychology, psychiatry, neurology, radiology, and neuroscience, as is my case."

Autism is so complex that I believe this is the only way we can make progress and understand how it works: through participatory research. We even have people with ASD becoming researchers themselves, designing studies, and contributing to decisions about what we should be researching—that is, what people with ASD want to know or what will benefit their lives.

“We still have so much to learn about how the brain works; it’s the most complex organ. I don’t know how long it will take, whether it will be another 50 or 100 years, but I’m confident that we will understand how the brain functions. It’s important to keep in mind that knowledge in this field is advancing very, very rapidly. We have incredible scientific tools that, if someone had told me about them when I was young, would have seemed like science fiction. Some of these tools are in very early stages, but we can see where they are headed. It’s also a big data issue because just simulating a few neurons requires a gigantic amount of data, but the field of computer science is also developing to make that happen.”