Researchers at the Autism and Neurodevelopmental Disorders Institute (ANDI) have an ambitious and comprehensive agenda. From examining the root causes of autism spectrum disorder (ASD) to developing new interventions to treat it effectively, the institute’s research will play an instrumental role in improving the health and quality of life outcomes for millions of individuals and their families.
There is no one cause of autism just as there is no one type of autism. Most cases involve a complex and variable combination of genetic and environmental risk factors that influence early brain development. By connecting genetic studies, new methods for imaging brain circuits and new tools for diagnosis and intervention, the institute’s scientists are working to:
- Improve our understanding of the root causes of ASD based on differences in brain development starting prenatally
- Develop tools for accurate diagnosis and cutting-edge treatments in early childhood, to get the right treatment to the person at the optimal time
- Create novel therapies for women and girls with autism as well as adolescents and adults
Focus on Brain Circuitry
ANDI researchers are studying the brain’s functions and circuitry responsible for the core and associated symptoms of ASD. As a result of this work, ANDI is producing new insights into the causes of ASD, as well as provide clinicians with crucial data to determine which treatments are—or are not—most effective for particular individuals.
Biomarker Tools for Accurate Diagnosis and Early Interventions
The institute will develop new screening procedures and early intervention methods to not only identify people who exhibit symptoms of ASD and ensure that they do not fall through the cracks, but also help patients, families and doctors understand the extent of a neurodevelopmental disorder and get a head start in mitigating its effects for each specific patient. ANDI will develop practicable biomarkers to track the effects of interventions and predict outcomes.
Age- and Gender-Specific Therapies
The institute will adapt new methods to diagnose and treat different gender and age groups based on the latest research with particular interest in understanding girls and boys with ASD as they transition through adolescence and into young adulthood. By improving understanding of ASD’s development for people at different life stages, these new tests will help clinicians more clearly understand the extent of a neurodevelopmental disorder and how the brain responds and adapts.
- ANDI researchers have developed a new method to map and track the function of brain circuits affected by autism spectrum disorder (ASD) in boys. As a result, someday doctors will be able to quantify how that brain circuit is working in their patients and assess the effectiveness of a treatment.
- ANDI researcher Valerie Hu and her team discovered an important sex-dependent difference in the level of RORA protein in brain tissues of males and females, which may contribute to sex bias in autism. This finding suggests males may be more susceptible than females to misregulation of other genes if they are RORA deficient. RORA deficiency is linked to aromatase deficiency, which in turn can lead to elevated testosterone levels, a proposed risk factor for autism.
- ANDI Director Kevin Pelphrey is the leader of a National Institutes of Health-funded multi-site project to study a large sample of girls with autism with a focus on genes, brain function and behavior throughout childhood and adolescence. The objectives are to identify causes of ASD and develop new treatments.
- ANDI researcher Richard Grinker, as part of a team of Korean and American scientists’ exhaustive study of 55,000 children in Goyang, South Korea, discovered that ASD’s prevalence in children is much more common than suggested by earlier research—two-and-a-half times what the estimated prevalence is in the United States. The study's primary message is not that South Korean children are any different from American ones, but rather that the systems in place for screening children are not as rigorous as we may believe.