autism
autism

World Autism Day: developments in autism research

Approximately 1% to 2% of the Dutch population is autistic. Emeritus Professor Jan Buitelaar and PhD candidate Viola Hollestein conduct autism research within the Donders Institute. The research aims to better understand and detect autism earlier to facilitate improved treatment when treatment is necessary. Additionally, environmental factors and neurodiversity play significant roles. During the recent World Autism Day, Jan Buitelaar and Viola Hollestein shared their experiences and current research findings while looking ahead.

Autism is not a new concept in the research realm. In 1943, Austrian paediatrician Leo Kanner became the first scientist to publish an article on autism, predating Emeritus Professor Jan Buitelaar's arrival as Psychiatry Professor in Nijmegen in 2002.

Biomarkers

Current autism research in Nijmegen focuses on various lines of investigation. The primary line involves identifying and validating biomarkers. Given that all psychiatric conditions are defined based on subjective behavioural characteristics via reporting or interviews, this represents a crucial and objective alternative. This can be achieved through biochemistry, measuring brain activity via MRI or EEG, or eye tracking. It involves collaboration with the industry. Collectively, there's recognition of the need for a better understanding of autism, measurement tools, and biology to identify and validate biomarkers.

Buitelaar states, "We initially sought a laboratory or psychological test to diagnose autism for subsequent treatment. However, we were already beyond that. As autism is a spectrum, there is considerable variation among patients while treatment methods have largely been one-size-fits-all. For instance, past research on the oxytocin hormone (spray) showed varying efficacy. An increasing demand for personalized treatment, confirms the need for identification and validation of stratification biomarkers."

Validating these biomarkers follows a stringent process comparable to bringing medications to market. Extensive research is conducted at the Donders Institute, such as through the LEAP project, which examined close to 700 individuals aged 6 to 30 at three intervals over five years. Two years ago, this project demonstrated that the brains of individuals with autism exhibit slightly delayed reactions to facial stimuli. This delay even holds predictive value for the development of autism in individuals.

This result is currently being explored in collaboration with the Baby & Child Research Center among babies and children aged 3 to 6. Jan Buitelaar says, "We strive to do studies closer to the origin. This enables us to intervene earlier and more effectively when treatment is warranted. This underscores the initiation of a third research line focusing on babies with autistic siblings. These babies are 5 to 8 times more likely to develop autism. By intensely studying this group 8, 10, and 14 months after birth, we gain insight into the brain activity of autistic individuals before symptoms become clinically measurable."

Diversity and environment play pivotal roles

Two significant changes witnessed by Jan Buitelaar in autism research are the emphasis on environment and the neurodiversity of autistic individuals. "Consider the open office environment, a complete disaster for autistic individuals or those with ADHD. We should pay more attention to how we design environmental stimuli to enable these individuals to leverage their strengths. This underscores the increasing research on environmental stimuli and stress. Moreover, acknowledging differences among individuals is crucial. Autistic individuals aren't necessarily sick or disabled but are different in terms of their behaviour and brain functioning, akin to what's become commonplace in nature. Autistic individuals shouldn't be treated uniformly; intervention should only occur when they experience distress."

PhD candidate Viola Hollestein is currently in the final year of her PhD research and hopes to continue studying autism thereafter. She became acquainted with autism during her master's internship in the laboratory: "I found it fascinating to observe why people perceive the world so differently or behave differently. Subsequently, I had the opportunity to combine various types of data for investigation, ultimately focusing on autism."

She currently studies genetics, neuroimaging, behaviour, among other factors, to enhance understanding of autism. She emphasizes the importance of integrating diverse data, a novel approach in autism research and brain research in general, to uncover previously unknown connections. "A significant finding I have made thus far is utilizing genetics in different ways to investigate specific brain communication" explains Hollestein. "I've observed that excitatory and inhibitory processes, and the genes involved in these mechanisms in our brains, are differently linked to behaviour typical of autism."

According to her, finding markers early in the process and developing better treatment options go hand in hand. "If we have better treatment options and can identify biological markers early, I believe this provides our society with a greater opportunity to find better solutions and offer early, enhanced support."

Hollestein thinks society can provide better support to individuals with autism and their families. In conclusion, she invites anyone interested in learning more about autism to visit the Donders Wonders blog, where many articles on autism, written by Donders Graduate School doctoral candidates:

Donders Wonders

 

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Prof. J. Buitelaar (Jan) , J.M.V. Hollestein (Viola)