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Tom Cariveau, Emory University
Mentor: Lawrence Scahill, MSN, PhD
A new treatment for minimally verbal girls with ASD
Fewer females than males are diagnosed with autism spectrum disorder (ASD), and fewer females have been enrolled in treatment studies. As a result, it is not clear if commonly used interventions are equally effective for females. This study will examine the feasibility and preliminary efficacy of Social Engagement Therapy (SET) in a sample of minimally verbal girls with ASD. SET is a brief, structured behavioral intervention, based on applied behavior analysis, and is designed to increase social communication and social approach in minimally- verbal children with ASD. The study will also explore the use of a new wearable technology worn by the therapist to examine orientation to social stimuli.
Aarti Nair, Ph.D., University of California at Los Angeles
Mentor: Susan Y. Bookheimer, PhD
Brain changes following social skills treatment in adolescents with ASD
This research will combine neuroimaging technology and more sophisticated measures of treatment outcome to directly study how a social-communication intervention affects the brain. This study will identify markers of brain activity that will predict how different people respond to treatment to ensure that everyone with ASD has the best opportunity for a favorable outcome. The proposed study will attempt to show the importance of neuroimaging as a biomarker of treatment efficacy and a predictor of treatment outcome. The findings would not only potentially have direct clinical implications, but also impact the field of ASD research by highlighting new clinically relevant uses of neuroimaging methods.
Tychele Turner, Ph.D., University of Washington
Mentor: Evan Eichler, PhD
Origins of genetic causes of autism
One of the major discoveries in the identification of genes associated with autism are ‘de novo’ mutations, or those not found in either parent. However, there are also cases of autism where a mutation is passed from a non-affected parent that results in autism in the child. Recent work by Dr. Turner has shown specific genes coming from the mother are present in boys, but not girls, with ASD. This study will go on to identify those specific genes that are transmitted from a parent and describe features in the children with autism who inherited them to see if there is any sort of behavioral difference. Then these genes will be sequenced so they can be studied further by this and other laboratories. This will ultimately help clinicians understand some of the differences in males and females with autism and possibly lead to individualized treatment targets.
Donna M. Werling, Ph.D., University of California at San Francisco
Mentor: Stephan J. Sanders, BMBS, PhD
The genetics of male sensitization and female protection in ASD
Despite the lower prevalence in autism diagnosis of females compared to males, genetic studies show that affected females are more likely to have harmful mutations in their genome. This suggests that females are in some way protected against autism. However, the role of certain genes in sensitizing males to a diagnosis cannot be ruled out. In order to study these two ideas further, this study will look at gene expression and look at genes that are different in males and females regardless of diagnosis, and compare those that are different in autism. The researchers will use multiple approaches in humans and animals to explore these ideas. In this way, genes that sensitize a male to have autism versus those that protect a female from an autism diagnosis can be explored. This may lead to therapeutics that mitigate the symptoms of ASD in males and females.
Jacqueline Barkoski, MPH, University of California at Davis
Mentors: Sally Ozonoff, PhD and Irva Hertz-Picciotto, PhD, MPH
Examining prenatal pesticide exposure, genetic susceptibility and risk for autism
Scientists concur that a combination of genetic and environmental factors increases risk for autism. However, the way that the two interact has been understudied. This project will leverage data from a high-risk pregnancy cohort called MARBLES to examine the influence of exposure to pesticides during pregnancy on ASD symptoms, including cognitive impairment and other psychiatric challenges in those children. In addition, an exploratory study will be launched to investigate the association between pesticide exposure during pregnancy and gene expression in mother and child with autism, something that has never been done before. By using this valuable longitudinal data collected prenatally, the study will help identify preventable risk factors and contribute to understanding the role of genetics and environment in autism diagnosis.
Spencer Moore, University of California at San Diego
Mentor: Alysson Renato Muotri, Ph.D.
Role of an autism-related cytokine in a genetic model of ASD
Besides fighting off infection, the immune system is now known to influence the way brain cells are shaped and sculpted. One immune system mediator of importance in ASD is a chemical called IL6, which is elevated following immune challenges associated with autism risk. This study will examine the role of IL6 in the brain in both an animal model of Rett Syndrome and cells from people with Rett Syndrome. Girls with Rett have several similarities to girls with autism, including the feature of loss of previously acquired skills, or regression. Therefore, understanding how specific genes influence autism risk is important for understanding autism in all forms. This study will more fully characterize the contribution of astrocytes, brain cells that can release IL6, on mutations of MeCP2, and more fully explain the role of immune molecules in neurodevelopmental disorders. This fellowship is being co- funded with the Rett Syndrome Research Foundation.
Christine Ochoa Escamilla, University of Texas Southwestern Medical School
Mentor: Craig M. Powell M.D., Ph.D.
Genetic mutations in chromosome 16 and their role in autism
Genetic mutations in an area of chromosome 16 called 16p11.2 are frequently associated with autism spectrum disorder and other neurodevelopmental disorders. One gene within this region affects head size and may be important for autism risk; another is a known autism risk gene. This study will remove these two genes from an animal model so that their role in the shaping and functioning of brain cells can be examined. The long-term goal is to understand the role of these genes in brain cell activity and identify novel therapeutic targets for future studies.
Woon Ju Park, University of Rochester
Mentor: Loisa Bennetto, PhD
Mechanisms of sensory processing in ASD
Oversensitivity or undersensitivity to sensory input is a common symptom of autism spectrum disorders. These symptoms show a great deal of variability among people with an ASD diagnosis. Individuals with autism also sometimes show variations in how they organize different types of sensory information and put it all together to interpret the world around them. This study will investigate factors that influence processing of visual information in people with ASD and how that then affects interpretation of visual input. This will ultimately lead to a better understanding of sensory processing in people with autism and help augment strengths of those with ASD so they can better cope with impairments.
Megha Subramanian, Johns Hopkins
Mentor: Mollie K. Meffert, MD, PhD
Study of a potentially novel biomarker for features of ASD
Many individual genetic variants contribute to ASD, but newer evidence emphasizes how these genes converge on a common set of pathways controlling the growth, development, shape and function of brain cells. In some people with autism, head size is enlarged starting very young, suggesting a type of autism that has specific genetic features. A biomarker that reflects fundamental differences in brain growth might be useful for early detection of ASD. This study will focus on small fragments of RNA called microRNA (miRNA) that control protein synthesis. Specifically, dysregulation of some miRNAs may lead to too much or too little protein in certain cells. The levels of these miRNAs can be measured in blood, which makes it a potential biomarker, and this project will reveal how specific miRNA pathways contribute to head growth in ASD.
Clare Harrop, Ph.D., University of North Carolina
Understanding what captures the attention of girls with ASD
One theory of why fewer females than males are diagnosed with autism is that females are more adept at compensating for, or camouflaging, their autism symptoms. Therefore, specific research methods and stimuli need to be developed for males and females. This study uses eye tracking technology to determine what captures each person’s attention. Video clips are recorded to show children interacting with varying “levels of sociability,” (different numbers of people in different situations), as well as showing children playing with objects that are traditionally targeted at either male or female interests. By understanding what boys and girls pay attention to in social situations, this study will address how more effective instruments can be developed to detect and better understand sex-specific differences in autism and identify factors that may underlie the lower rates of autism in females.
Astrid Vicente, Ph.D., Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA)
Use of an Early Life Exposure Assessment Tool (ELEAT) for autism in Portugal
While both genetic and environmental factors influence an autism diagnosis, very few studies have integrated genetic and environmental data together in an analysis. This is due to a lack of environmental data in genetic samples and the lack of genetic data in most epidemiological studies with exposure data. Recently, ELEAT was created and validated for this purpose and has modules that collect information online or in-person on pre- and post-natal factors, including diet, chemical and lifestyle exposures, and medical information. The researchers will translate and culturally adapt the ELEAT into Portuguese so this information can be combined with existing genetic data to speed up the research and discovery of gene/environment interactions in ASD. The Portuguese translation may be used in multiple culturally diverse settings, including South America, Africa and Asia, where genetic collection in autism samples is already in process.
Undergraduate Summer Research Grants:
Mentor: Robert Schultz, PhD, Children’s Hospital of Pennsylvania
This research will closely examine several aspects of social communication in autism: word choice, gestures, turn taking and other conversational skills. This intensive focus on a core feature of autism will help improve communication intervention strategies for people with ASD.
Mentor: Meghan Miller, PhD, University of California at Davis
The team at UC Davis will utilize second-by-second behavioral coding of infants at risk for ASD at different ages. Instead of just focusing on autism-related behaviors, this research will expand evaluations to include features of ADHD to identify early signs and symptoms for infants with an older sibling with autism, since ADHD is a common outcome among these infants.
Mentor: Matthew D. Lerner, PhD, Stony Brook University
This research will examine the link between repetitive behaviors, perseverative thinking and autism symptoms in adults. It will also participate in validating a tool to measure IQ in autistic individuals with anticipated high IQ.
Adriana Mendez Leal
Mentor: April Levin, MD, Harvard University
Past studies of brain activity in infants have shown promise in using electrical signals in the brain to establish a very early biomarker of ASD. This research will compare brainwaves at 6 months to language scores at 18 months, further testing the idea that these are early biomarkers.
Mentor: Elizabeth Redcay, PhD, University of Maryland College Park
This research will examine brain activity in individuals with autism in real time while individuals participate in a communication program called “Let’s Chat.” It will focus on areas of the brain involved in social reward to determine how social communication may or may not be reinforcing in people with ASD.
Mentor: James McPartland, PhD, Yale University
Individuals with autism often suffer from poor sleep, which has long been a huge concern for families. This unique study will examine brain activity during waking hours and compare it to sleep quality in an effort to understand how these variables contribute to behavioral issues.