Research gives new insights into how autism arises

In a recent study, an explanatory model provides information on various risk factors that contribute to autism and the wide variation in the neurodevelopmental conditions on the spectrum.

Gothenburg [Sweden]: Autism is a neurodevelopmental disorder that affects how people perceive their surroundings as well as how they interact and communicate with others. There are significant differences in personal traits and manifestations among people with autism. As a result, the disorder is typically described as a spectrum disorder with numerous subtle variations.

Thanks to an explanatory model presented in a study from the University of Gothenburg, the development of autism may now be more carefully deduced. This model sheds new light on how various risk factors contribute to autism and why there is such wide variation between individuals.

The new explanatory model is theoretical but simultaneously practical in application, since its various components are measurable through, for example, questionnaires, genetic mapping, and psychological tests. The model describes various contributing factors and how they combine to prompt an autism diagnosis and cause other neurodevelopmental conditions. The model links three contributing factors. Together, these result in a pattern of behaviour that meets the criteria for an autism diagnosis:

1. Autistic personality: hereditary common genetic variants that give rise to an autistic personality.
2. Cognitive compensation: intelligence and executive functions, such as the capacity to learn, understand others, and adapt to social interactions.
3. Exposure to risk factors: for example, harmful genetic variants, infections, and other random events during gestation and early childhood that adversely affect cognitive ability.

"The autistic personality is associated with both strengths and difficulties in cognition but does not, as such, mean that diagnostic criteria are fulfilled. Still, exposure to risk factors that inhibit people's cognitive ability may affect their capacity to tackle difficulties, which contributes to individuals being diagnosed with autism," says Darko Sarovic, physician and postdoctoral researcher at Sahlgrenska Academy, University of Gothenburg, who wrote the thesis. The model makes it clear that it is the many different risk factors combined that bring about the major differences among individuals on the spectrum. The various components of the model are supported by results from previous research.

High executive functioning skills may enable people to compensate for their impairment in such a way as to mitigate the symptoms, which reduces their risk of meeting the diagnostic criteria for autism. This may explain why, at group level, researchers observe a lower degree of intelligence among people diagnosed with autism, as well as other neurodevelopmental conditions. It also affords an understanding of why intellectual disability is more common among these groups. Thus, the model indicates that low cognitive ability is not part of the autistic personality but, rather, a risk factor that leads to diagnostic criteria being met.

"The autistic personality is associated with various strengths. For example, parents of children with autism are overrepresented among engineers and mathematicians. The parents themselves have probably been able to compensate for their own autistic personality traits and thus have not met the criteria for an autism diagnosis. The impact of the disorder has then become more noticeable in their children owing, for instance, to exposure to risk factors and relatively low cognitive ability," Sarovic says.

The diagnosis of autism is more common among boys than girls, and girls often get their diagnosis later in life. Some girls reach adulthood before being diagnosed, after many years of diffuse personal difficulties. "Girls' symptoms are often less evident to other people. It's well known that girls generally have more advanced social skills, which probably means that they're better at compensating for their own difficulties. Girls also tend to have fewer autistic traits and be less susceptible to the effects of risk factors. Accordingly, the model can help to answer questions about the gender gap," Sarovic says.

The model also proposes ways of estimating and measuring the three factors (autistic personality, cognitive compensation and exposure to risk factors). This makes it possible to use the model in the planning of research studies and the interpretation of their results. Diagnostics is another conceivable area of use. In a pilot study in which 24 participants had been diagnosed with autism and 22 controls had not, measuring the three factors of the model enabled more than 93 per cent to be correctly assigned to the right category. The model can also be used to explain the inception of other neurodevelopmental disorders, such as schizophrenia.

Darko Sarovic is now a postdoctoral research fellow at Harvard Medical School in Boston, Massachusetts, while remaining affiliated to the Gillberg Neuropsychiatry Centre at the University of Gothenburg, Sweden. Title: A Multimodal Approach toward the Biological Categorization of Autism - Development of Theoretical Models, Classification Methods, and Biomarkers. (ANI)