The autism of
2025/03/01 Etxebeste Aduriz, Egoitz - Elhuyar Zientzia Iturria: Elhuyar aldizkaria
Forty years ago, the first studies and services on autism began in the Basque Country. A lot has changed over the years about autism. It's more heterogeneous than I thought. More common than I thought. It's more normal.
“We’ve come a long way in understanding autism,” says psychiatrist Joaquin Fuentes Biggi. He is head of the Department of Child and Juvenile Psychiatry of the Gipuzkoa Polyclinic and scientific advisor of the Gautena association. “In the 1980s, when the first services began here, we considered autism as the only ‘disease’ and sought its cause and cure. The evolution of knowledge in these forty years has been astonishing; we have changed almost everything that was said at the beginning.”
“Now we talk about autism in the plural,” says Fuentes. "These are neurodevelopmental disorders with some common but varied aspects that vary with age and emerge in different ways depending on the level of protection they receive from their environment." It distinguishes two groups within the autistic spectrum. "On the one hand there are people with neurodiversity since childhood; they face great difficulties and have great needs (they could represent about 10-15% of all cases, although there are not enough studies to ensure this). On the other hand, there is another majority that we need to know better; they are often misqualified or neglected and they only need understanding, acceptance and support to have a productive and happy life.”
It is precisely a way for many people with autism to have their condition, not a disorder or disease. “It must never be generalized; it must always be personalized: the individual and his environment,” says Fuentes.
The biological basis
“We were looking for the ‘autism gene’ 40 years ago,” Fuentes recalls. Currently, more than 800 autism-related genes have been identified. It is precisely this genetic nature that the neuroscientist of the UPV, Olga Peñagegilano Ahedo, emphasizes: “It has already been shown that many of the causes that were made public in the past were not real, such as the theory of mother refrigerators [that was caused by the coldness of parents and the lack of response to the emotional needs of their children] or vaccines. We know that, basically, autism has a genetic basis. But in most cases it is polygenic, that is, it is caused by combinations of variants of many genes. That’s one of the biggest challenges in autism research.”
There are also monogenic autisms. The most common is fragile X syndrome, which accounts for about 2% of autism cases. In total, it is estimated that autism caused by the action of a single gene could account for 20%. From there up to 50% or even 90% (depending on the studies) is polygenic. “In most cases, it’s a combination of many genetic variants,” says Peñagatarano, “and the rest of us have them, too, but in certain combinations the likelihood of autism increases.”
In addition to genetics, environmental factors also play a role. For example, it has been observed that autism can be caused by taking certain drugs during pregnancy and, conversely, it is prevented by taking folic acid during pregnancy; it has been observed that there is a relationship with the age of the parents; and it is believed that various contaminants can also have an effect. “But there are very few really proven environmental factors,” says Peñagegilano.
Investigating the mechanisms
These genetic variants can have a variety of biological effects. For example, some deficiency in the oxytocin neurotransmission system may arise. This is something that Peñagatecan has been researching for years. "In mouse models of autism, it has been observed that they were deficient in oxytocin and that the administration of this hormone improved their social behaviour." Since then, it has been observed that some people with autism have an altered oxytocin pathway. And some mutations in genes related to oxytocin production, release and receptors have been identified.
There have also been several clinical trials with oxytocin. “At first, we thought it was going to be a panacea, but the results have not been expected,” Peñagegilano confesses. “In some cases it works to improve social behavior, but in others it doesn’t.”
The reason for this lies in the heterogeneity of autism, according to Peñagásquano. “In the case of laboratory animals, they have autism due to a certain mutation. But the real cases are very different.” This is why this step from the laboratory to the clinic is difficult. “It’s very complex. In addition, a person with autism may have many deficits, and each deficit will likely have a different biological pathway. That’s why we may be able to improve social behavior, but it will continue to have many other problems. The causes and consequences are so heterogeneous that treatments will have to be as heterogeneous as that.”
Oxytocin has also opened up a new avenue of investigation. “We saw that oxytocin was associated with dopamine, because oxytocin also causes the release of dopamine,” explains Peñagatecan. Both oxytocin and dopamine are involved in the brain's reward system. They have a direct effect on pleasing you with something, whether it’s food, sex or social relationships. And, according to one theory, this reward system in autism is likely to be disrupted. Indeed, a number of mutations have been found to be associated with the dopamine pathway. “We have seen in animals that it is possible to improve social behavior by influencing the dopamine pathway,” says Peñageragano.
On the other hand, some treatments that block the dopamine pathway are already used to treat repetitive behaviors. “What we have seen, however, is that by increasing the activity of this route, social behavior improves,” says Peñagegilano. And he explains the complexity of dopamine: “Dopamine has two main types of receptors: d1 and d2. We believe that repetitive behavior comes from the activation of d2 receptors, and social behavior comes from the activation of d1. Then, of course, the ideal treatment would be one that activates d1 but blocks d2. “We’re looking into that with animals.”
In autism research, finding biological markers that would facilitate diagnosis has been another goal for many years; “I doubt if there could be such a thing,” says Peñageragano. “There was a time when it was sought, but given the variety of causes, I find it impossible to find a marker that everyone has in common.”
Dr. Fuentes agrees: “Behavioral markers seem more viable for the time being so they can be diagnosed in the first 12-18 months of life.” For example, siblings born after children diagnosed with autism are being followed because they are known to have a 20% chance of having autism as well. “This monitoring could provide vital information. For example, they are testing whether studying eye behavior in the presence of social stimuli could help early diagnosis.”
The diagnosis
For now, the diagnosis is made through behavioral symptoms. “Some characteristic symptoms are considered,” explains Fuentes, “deficiencies in verbal and non-verbal social communication, deficiencies in socio-emotional reciprocity and understanding of social relationships, repetitive behaviors and limited fantasy, lack of flexibility and limited interests, and finally, hyperreactivity or hyporreactivity sensory.” However, Fuentes also wanted to highlight another aspect: “It should be noted that diagnostic criteria do not include the positive attributes that many have, such as attention to detail, extraordinary memory, honesty, the ability to observe and respond logically and the tendency to routines.”
In addition, it has been shown that the absence of biological markers does not in any way mean that correct and reliable diagnoses are not made. “Diagnoses could be made from the beginning of childhood, although, depending on the degree of affection, it is often camouflaged until it becomes more demanding with age in social life.”
“And as with all medical disorders, there are full clinical forms and partial forms. For this reason, it is recommended to move from the diagnostic label to the evaluation and attention of each person. The diagnosis allows us to bring together similar people in research and to identify their needs for support, but given the heterogeneity in the number of people, we have to give each person a name and a surname. The diagnosis will help us understand the disorder, but not the person and their environment. In fact, there could be completely different needs behind the same diagnosis.”
For Amaia Lopetegui, director of Labayen Gautena, there has been a lot of progress in diagnosis in recent years: “It identifies earlier and better. The protocols systematically applied in schools to children between two and five years of age make it possible to detect suspicions, which lead to early identification in the direction of the health system".
In addition, he explains that they are able to better detect autism because they had more subtle manifestations or lower needs in people who until recently went unnoticed. There are women in this situation. “There is abundant evidence that diagnostic tests have a male effusion; it does not take into account that girls and women can express or hide autism differently, so their diagnosis is excluded from the criteria that have such an effusion. We’re working to change that.”
“For example, a lot of smart girls and women with autism who don’t identify themselves in childhood,” Fuentes also explains. “They tend to be more sociable and camouflaged by imitation. This causes them a lot of stress and significant suffering, and they are often misdiagnosed, such as attention deficit disorder or just anxiety.” Thus, although autism is more common in men, the proportion has changed: women were once considered one in four, now one in three.
On the other hand, “in adults there is a tremendous under-diagnosis,” says Fuentes. “We often diagnose parents after they do it to their children. If we extrapolate data from children, we would have 3,500 adults with autism in Gipuzkoa. However, many of these people have different diagnoses in many cases.”
“60% of people with autism have no intellectual disability and this sector is ignored by our health, work and social structures,” explains Fuentes. “It is essential to generously support those who have great needs – and this is fortunately done by our community – but it would cost us much less to also support these adolescents and adults, who are citizens capable of contributing to our society.”
Old age is another aspect that has been forgotten. “There is a lack of data and evidence on how people with autism age,” says Lopetegui, “but we know they die sooner than expected.” Although there is still research to investigate why this happens, Fuentes gives a reason that has already been detected: “A common denominator is the difficulty of access to adequate health care due to common illnesses. One of the measures to solve this problem could be priority health cards.”
Lopetegui also mentions other deficiencies: “There are no programs to support the transition from compulsory education to vocational training or university, or the transition from education to work, or the acquisition of housing.” These transitions are also particularly difficult times for people with autism, as one of their main characteristics is usually adherence to the routine. Therefore, filling these gaps is one of the challenges of a plan that is being developed with the Government, the Autism Plan.
Expanding the Normality
On the other hand, experts have claimed that there is a lot of work to be done to make people with autism more integrated into society. “When many common services and programs were designed, the needs of different groups were not taken into account,” says Lopetegui. “And this design includes the physical aspect (signaling, cognitive accessibility, environmental factors such as noise, lights, etc.), but also how services are developed and provided: training of professionals in these systems (doctors and teachers, but also sports monitors, professionals in citizen care services, police, etc.), protocols adapted to people with functional diversity, easy-to-read materials, adapted windows, etc.”
"Every time we introduce new user profiles into the design of programmes and services, we extend normality," he adds. Fortunately, and although much remains to be done, significant progress has also been made in this area. "At the school level, it should be noted that all students with autism in Guipúzcoa carry out their activity in the normal educational field up to the age of 20."
On the other hand, it is often possible to greatly improve the experiences of people with autism or functional diversity in general with small changes. For example, in the barracks of village parties it is increasingly common to have “silent hours”, which allows many more people to enjoy it. "There are also adapted film programmes, and measures are taken to ensure that children with autism can stay with Olentzero or the Three Wise Men, together with their neighbours and siblings," explains Lopetegui.
One of the keys to continuing to spread normality could be changing the way we understand autism. “We have to break with this negative view of the disease to be treated,” Fuentes proposes. “We are gradually realizing that people with autism need above all acceptance, understanding, respect and support. Everyone needs their own training, adapted to their abilities, to understand themselves and to adapt to their environment. They will thrive in life, and the sooner they help, and the more sociable the environment, the better their quality of life will be."
“Autism is a neurobiological disorder, but this does not mark the path, since biological treatments will be limited to very specific populations (for example, those with rare genetic diseases), so the therapeutic biomedical effect is very far away,” Fuentes clarifies. “Research is obviously needed, but improving the quality of life for people with autism and their families is a priority. The proportion of those who have strong support is small, and it must be ensured that they have that support whenever they need it throughout their lives, and that it is recognized and supported across the spectrum. In this sense, it is great news that our society and authorities implement the Autism Plan. That’s a dream we’ve had for the last 40 years.”
