By Emily Leclerc, Waisman Science Writer
* Note: At present, there are differences of opinions in the autism community regarding the use of identity-first language and person-first language. When writing about individuals and families, the Waisman Center always asks for the individuals’ preferences and adheres to those. For the purpose of this story, as it does not focus on one individual or family, both identity-first and person-first language are used. *
Autism spectrum disorder (ASD) is an intricate and complicated diagnosis. The spectrum of presentations and severity is as expansive as the theorized causes. Autism’s complexity and breadth of impacts on a person’s life means that it has a multitude of facets to investigate. Since ASD’s official recognition as a developmental disorder in 1980, researchers across the globe have been learning about autism’s biological underpinnings, how development across the lifespan is affected, the best ways to treat and cope with symptoms, and how to best support individuals in leading their fullest lives.
Since its opening in 1973, the Waisman Center at the University of Wisconsin-Madison has been at the forefront of research on intellectual and developmental disabilities, such as autism. With the prevalence of autism continuing to increase from year to year, the Waisman Center has many dedicated investigators working to broaden the knowledge of autism’s multifaceted scope in the hopes of deepening our understanding of the condition and how to best support those with it.
How microscopic neuronal machinery may contribute to autism
Autism research is a broad and ever-changing landscape. With the condition’s complexity and diversity, there is a vast array of aspects to investigate.
Understanding the causes of autism has been a focus of research for decades. Many studies have shown that genetics are likely to play a significant role in ASD. Various genes and mutations have been implicated in the condition, with more than 100 genes being suspected of playing a role says the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Luigi Puglielli, MD, PhD, Waisman investigator and professor in the UW-Madison School of Medicine and Public Health’s Department of Medicine, is researching a particular molecular machinery that, when disrupted by genetic events, appears to play a role in ASD.
“The general framework of my work is the molecular mechanisms of neurodevelopment and neurodegeneration. I’m particularly interested in studying dynamics of the secretory pathway and metabolic crosstalk within the cell and how these events affect the human physiology and human pathology,” Puglielli says. His hope is that this work can illuminate the molecular underpinnings of disease processes to give clearer targets for new therapies.
The specific machinery that Puglielli studies, called the endoplasmic reticulum (ER) acetylation machinery, functions in cells as a quality control measure and as a disposal process of improperly folded proteins. Puglielli, who discovered the machinery and its functions, has found that when this machinery is not working properly, it can result in developmental and intellectual impacts on the individual. His research has provided robust evidence to suggest that gene duplication events that cause the disruptions in the ER acetylation may be a candidate cause of ASD. Puglielli is continuing to research the ER acetylation machinery in the hopes of fully understanding the consequences of disruptions. This understanding may lead to potential targets for therapies and treatments.
Understanding the structural impacts of autism on the brain
Moving from basic cellular machinery to the structures of the brain, Janet Lainhart, MD, Waisman investigator, psychiatrist, and professor in UW-Madison’s School of Medicine and Public Health, has spent the last 30 years studying how autism impacts the brain and how those changes relate to symptoms and clinical outcomes.
Early in her career, Lainhart discovered that macrocephaly – having an overly large head – which is often seen in kids with ASD, develops as the child ages rather than presenting at birth. As macrocephaly is often a result of another condition, this discovery played an important part in researchers understanding that ASD results in atypical brain development.
She has continued to study the brain’s development in individuals with ASD alongside Andrew Alexander, PhD, Waisman investigator and professor of medical physics and psychiatry, using magnetic resonance imaging (MRI). Their work has led to discoveries in how ASD affects the development of brain white matter and the cerebral cortex as well as important insights into how the brain’s atypical development in ASD relates to symptoms, symptom severity, and clinical outcomes.
Most recently, Lainhart and Alexander are collaborating on another project along with Doug Dean, PhD, Waisman investigator and assistant professor of pediatrics, medical physics, and Lauren Bishop, PhD, a Waisman investigator and associate professor in the School of Social Work, that studies autism and aging. This large-scale longitudinal study is combining brain imaging with measures of health and cognitive ability to better understand how aging impacts individuals with autism.
Communication is key
Autism may impact facets of an individual’s development, including communication and language. Individuals with autism may or may not experience a range of communication challenges, such as being minimally verbal or having difficulties reading social cues and body language.
Susan Ellis Weismer, PhD, professor emerita of communication sciences and disorders and Waisman investigator, has spent her almost four-decades-long career studying language and speech development in children with disabilities. She has dedicated the last 15 years specifically to studying autism’s impact on language development. For Ellis Weismer, language is such an important part of the human experience that it felt critically important to study.
“I’ve always been interested in communication and communication disorders because it is such a basic human capacity,” Ellis Weismer says. “When it’s disrupted it interrupts your academic, your vocational, and your social interactions. Just everything.”
Her more recent work has been investigating whether young autistic children have difficulties generating expectations or making predictions during learning. This information can then be used to help pin down the cognitive functions that are influencing communication patterns. “We’re trying to get at these underlying cognitive processes and see where they’re having difficulties so it might give us intervention implications,” Ellis Weismer says.
Better characterization and understanding of how communication and language development is impacted by ASD can give researchers and clinicians more specific insight into potential ways to facilitate language skills.
Using video games to improve motor skills
Brittany Travers, PhD, associate professor of kinesiology and Waisman investigator, is dedicating her research to understanding motor difficulties in autistic children and adolescents and the brain development behind them, and putting together interventions to improve motor skills. Her interest in motor skills and people with disabilities came from her PhD dissertation work when she was getting surprising study results.
“I was able to look at motor skills in terms of postural stability and balance. Really surprisingly we kept finding that how still and steady a person was standing, either on a balance board or someplace at home, was predictive of individual differences in social communication and repetitive behaviors. It was baffling,” Travers says.
Since then, Travers has found that the connection between motor skills and autism to be deeper than she originally thought. Travers says that an estimated 1/3 of autistic individuals that come into her lab qualify as having severe motor impairment. And when they collected a massive data set of movement profiles obtained by asking participants to hold yoga poses on a balance board in a video game format, Travers found that, with 89% accuracy, they could predict who was autistic and who was not from analyzing the motor profiles.
Her method of using videos games with her study participants has also led to work that has shown that improvements in balance after training on the balance board can lead to a reduction in core autism symptoms.
Another arm of her lab continues to investigate the neural reason for these deep connections between autism and motor skills. Her lab has found structural evidence in white matter tracts in the brain stem, an early developing part of the brain, that are highly associated with the motor features they are studying.
“We’ve been thinking about the connections between the brain and movement and really thinking about movement as potentially a window into what is happening in the brain with autism,” Travers says. Armed with this knowledge, Travers and her lab hope to develop interventions that can improve motor skills to help make daily living skills just a bit easier.
Family plays a central role in autism
Understanding the molecular, physical, and structural components of autism is essential but the context of an individual’s life is equally as important.
“We all go through life with family. This includes people with disabilities who go through life with their family members and the people who are close and important to them,” says Leann Smith DaWalt, PhD, Waisman investigator and director of the University Center for Excellence in Developmental Disabilities (UCEDD).
Understanding the impacts of family life on individuals with autism is integral to creating a deep and nuanced view of the disorder’s effect on a person and their life. Marsha Mailick, PhD, emeritus vice chancellor for research and graduate education and a Waisman Center investigator, has been studying the intricate connections between intellectual and developmental disabilities and the family for decades.
Mailick and DaWalt’s work in the Lifespan Family Research lab has firmly established the importance and influence of family dynamics on a person with autism and other developmental disabilities and the impact that person has on their family. “Just as in all families – family relationships can have a positive impact on the person with autism,” Mailick says. She has also underscored that the parents, guardians, and siblings of someone with autism often face additional stressors that are not present with typically developing people.
Mailick’s work in untangling the intricacies of family life for people with autism has laid the framework for interventions and therapies that are now used across the globe. DaWalt’s work is a prime example.
DaWalt, who was a postdoc in the Lifespan Family Research lab, now partners with Mailick to continue the lab’s work as well as her own research. Her research builds on the wealth of knowledge Mailick has spent decades accruing. “My research has two main branches. One is trying to understand life course transitions for an autistic person and their family members,” DaWalt says. “The second is then how do we take what we’re learning from our longitudinal studies and population-based studies and translate that into effective therapies, support, and interventions for individuals on the spectrum and their families.”
DaWalt developed a psychoeducation intervention called Transitioning Together. The program designed to help young adults on the spectrum and their families transition into adulthood and learn how to cope with and prepare for all of the changes that come with that. Transitioning Together is now a clinical intervention used at the Waisman Center as well as at 13 different sites across the nation, as well as in other countries. Transitioning Together has also led to the creation of a similar program for autistic adults and their families called Working Together. This program is a psychoeducation intervention designed to help disengaged adults on the spectrum increase their engagement in meaningful activities and improve behavioral functioning.
“It’s really helpful to have a method and a system for breaking problems down and trying to solve them collaboratively. Practicing problem solving helps build a repertoire of coping because we know life is very stressful. And unfortunately, for individuals on the spectrum and their families, it is more stressful than it is for others,” DaWalt says. Transitioning Together provides that framework as well as information on what adult life may look like.
Autism by the numbers
Understanding autism’s prevalence and distribution in the population is at the heart of the work of epidemiologist and Waisman investigator Maureen Durkin’s research.
“Basically, epidemiology is the study of the frequency and distribution of diseases or other health outcomes in the population,” says Durkin, PhD, DrPH, a professor of population sciences. “The information generated can help identify if a disease or condition should be a public health priority and point to causes.”
Durkin and the Wisconsin Surveillance of Autism and Other Developmental Disabilities system, which is based at Waisman, gathers data on how often autism occurs, who is affected, and trends over time. According to their most recent prevalence report, published in 2023, 2.8% or 1 in 36 8-year-old children in Wisconsin have autism. This is more than a 100-fold increase compared to what the prevalence of autism was found to be in the first epidemiologic study of autism in Wisconsin in 1970. In addition to trends over time, epidemiological data can reveal health disparities and unmet service needs.
“Just by describing the frequencies, differences, and trends over time, we can get clues to causation,” Durkin says. Through this work, Waisman is an important contributor to the ADDM Network as well. As stated by the CDC, “The Autism and Developmental Disabilities Monitoring (ADDM) Network is a program funded by the CDC to collect data to better understand the number and characteristics of children with autism spectrum disorder and other developmental disabilities living in different areas of the United States.”
The information that Durkin collects and analyzes in Wisconsin can be used by the Waisman Center and the CDC to inform where the next research steps need to be taken. “We don’t just describe it for its own sake. We do it to stimulate action – often it’s further research. But once you see the rising prevalence and unmet needs for service, you can’t ignore those needs anymore. They become problems that we have to address,” Durkin says.
In addition to the ADDM Network, Waisman is also one of the six sites in the CDC funded Study to Explore Early Development (SEED). SEED’s goal is to better understand autism over the life course, from preschool aged children to early adulthood, and to look for factors that may contribute to the onset of autism. SEED’s research at Waisman is led by Durkin.
From research on the biological underpinnings of autism to family and population-based studies, the Waisman Center is working to build more effective interventions, therapies, and supports for individuals with autism and their families.
This collection of autism-related research is far from all that is happening at Waisman. Many other investigators at the center are contributing to the growing knowledge base around autism. Their work intersects with autism in a variety of different ways to push the field forward.
- For more information about autism activities at the Waisman Center, visit the Autism Hub Page.
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50 Years | 1973 - 2023