Carin Papendorp | Brown University
Mentor: Judy S. Liu, M.D., Ph.D.
Advisor: Eric Morrow, M.D., Ph.D.
Building a Clinical Trial Pipeline for Profound Autism
Individuals with a mutation in ASH1L exhibit symptoms of profound autism, as well as several medical comorbidities. Building on this fellow’s expertise in pre-clinical models of ASH1L-related autism, the fellow will advance to a natural history study of human patients with this mutation, and their families. In addition, the fellow will collect EEG data from families and identify potential biomarkers of this gene mutation. These are critical steps that enable future drug development and seizure treatment. When the study is complete, the findings have potential to guide development of new drugs to treat symptoms of profound autism, including those with and without an ASH1L mutation.
Orla Putnam | University of North Carolina at Chapel Hill
Mentor: Clare Harrop, Ph.D.
Advisor: Julia Parish-Morris, Ph.D.
Identifying Speech Prosody Markers and Patterns in Females to Improve Diagnosis
Females are less likely to receive an autism diagnosis than males and several studies are examining the biological, psychological, and developmental reasons for this disparity. One theory is that language abilities and patterns in females are superior to males, possibly reflecting better social ability, which may contribute to lower diagnostic rates. This study will look at a measure of language called prosody, or the rhythm, tone and pattern used during spoken language. Studies around prosody in autistic females are lacking, mostly because there are fewer girls with an autism diagnosis who can participate in research on prosody. This fellow will examine prosody in males and females with and without autism, and compare prosody to assessments of social function and interest. These results will inform caregivers, educators, and clinicians when considering a possible autism diagnosis for girls.
Xiao Su | Rutgers University
Mentor: Zhiping Pang, M.D., Ph.D.
Advisor: Emmanuel DiCicco-Bloom, M.D.
Interpreting the Impact of ASD Gene Mutations Using Pluripotent Stem Cells
The autism genome is comprised of genes that directly regulate protein expression and genes that indirectly regulate activity by turning on or off genes that affect protein expression. The latter genes are described as “epigenetic” and are influenced by both genetic mutations and environmental factors. What is not known is whether epigenetic mutations affect downstream processes related to autism like altering connections or function of brain cells. This project will use human induced pluripotent stem cells, or iPSCs, with a mutation of a gene called SETD1A that controls epigenetic gene regulation to examine the effects of mutations on gene expression in different types of cells. In addition, this fellow will examine how these mutations affect brain cell shape and functionality. Finally, they will investigate whether these effects are reversible, leading the way to new therapies that can help those with ASD.
Hyopil Kim, PhD | Johns Hopkins University School of Medicine
Mentor: Justus M Kebschull, Ph.D.
Advisor: Joshua Benjamin Ewen, Ph.D.
Understanding the Structural Basis of Disrupted Functional Connectivity in ASD Using Barcoded Connectomics
Many lines of evidence have shown that brain regions do not communicate well in people with autism, leading to symptoms of ASD. This can include too much or too little connectivity between brain regions, causing decreased or misdirected connections. Applying a technology new to autism, individual neurons will be labeled with bar codes and then tracked to determine where and how brain cells connect. This novel approach will allow scientists to better understand the nature of connectivity problems in autism, and potentially provide clues to new druggable targets.
Stephen Tran, PhD | University of California at San Diego
Mentor: Jonathan Sebat, Ph.D.
Developing a High Throughput Screening Platform for Gene Therapy and Drug Discovery in ASD
There has been a strong push to test new gene therapies in autism, including use of new antisense oligonnucleotide therapy, which targets working copies of genes to increase production of its associated protein. This highly innovative approach could remove a major bottleneck in the development of gene therapies for autism by developing a new way to test genetic therapy targets genome-wide.
Two-Year Post-Undergraduate Fellowship
Sereen Wong | University of California at Los Angeles
Determining the Long-Term Impacts of Infant Motor Impairments in Autism
There is a critical need to understand how motor impairments drive development and predict outcomes in autism. Using an infant siblings research design, infants from 6 months of age will be tracked for 2 years to determine how specific motor impairments lead to social deficits that accompany an autism diagnosis. This study will utilize both home video observation and data gathered from activity sensors worn by the infant to examine specific motor abilities that are linked to later social skills in toddlers. The results of this study may identify potential areas of early intervention to improve developmental outcomes and possibly ameliorate autism symptoms.
Profound Autism Pilot Grants
Charlotte DiStefano, Ph.D. | Children’s Hospital of Los Angeles
Improving Access to Communication Systems Among Those with Profound Autism in Diverse Communities
Individuals with profound autism may use a number of methods to try to communicate, including augmentative and alternative communication (AAC) systems. These systems range from pictures and communication boards to speech-generating devices and iPads and have been shown to improve overall communication and promote spoken language development. However, these AAC systems are not always accessible to all families. Utilizing the population of patients at the Children’s Hospital of Los Angeles (of which 40% are uninsured and 65% are from an ethnically diverse background), this study will examine factors influencing access to and use of AAC systems.
Dimitrios Mylonas, Ph.D. | Massachusetts General Hospital
Testing a Novel Device to Study Sleep at Home in Children with Profound Autism
Sleep problems are highly prevalent in individuals with profound autism and exacerbate emotional disturbances, cognitive deficits, and challenging behaviors. Existing studies of sleep in autism have mostly excluded children with profound autism. This omission has been blamed on the added burden, expense, and difficulty of studying sleep in children with profound autism in a lab setting. This grant will expand a sleep study currently in progress to add a cohort of children with profound autism. The goal of the study is to validate the use of a minimally invasive headband device that measures sleep quality at home and provides data on specific brainwave patterns during different phases of sleep in people with autism vs. people without autism.
This project is co-sponsored by CureShank.
Sheng-Nan Qiao, Ph.D. | Yale University
Modeling Neuroinflammation and Neuropsychiatric Regression in Profound Autism
Individuals with profound autism may sometimes exhibit neuropsychiatric regression, which can include catatonia, hyper aggression, and cognitive decline. This regression has been linked to infection in girls with Phelan McDermid Syndrome, a genetic condition associated with profound autism. There is some preliminary evidence linking the administration of anti-inflammatory drugs to the reversal of this regression. This animal model study will look at whether mice with the genetic mutation associated with Phelan McDermid Syndrome are more susceptible to the effects of inflammation-inducing drugs, and whether these effects can be mediated by inflammation-reducing drugs.
Giacomo Vivanti, Ph.D. | Drexel University
Examining the Relationship between Self Injurious Behavior and Medical Conditions in People with Profound Autism
Self-injurious behaviors such as headbanging, scratching, and biting are common in individuals with profound autism but are poorly understood. Some of these behaviors may be responses to pain or discomfort caused by a pre-existing medical condition or unmet medical need, but this is difficult to assess in those with a limited ability to communicate. As a consequence, the medical needs of people with profound autism may not always be identified through routine healthcare visits. Working with a large residential and day program service provider, this study will examine the relationship between medical conditions and self-injurious behaviors, and determine whether interventions addressing medical conditions could alleviate self-injurious behaviors. This project will also assess the feasibility, acceptability, and effectiveness of a new protocol designed to facilitate successful healthcare visits for people with profound autism.
Suzanne Wright Memorial Research Accelerator Awards
Jason Griffin, Ph.D. | Yale University
Expanding the Utility of Biological Markers in ASD
The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) is a multicenter research study based at Yale that also includes Duke University, Boston Children’s Hospital, the University of Washington/Seattle Children’s Research Institute and the University of California, Los Angeles. The aim of the consortium is to develop reliable and objective measurements of social function and communication in people with autism, based on underlying neurobiological signals rather than on behavior. To date, measuring several of these biological signals (by both the ABC-CT and other research groups) as objective markers, has only taken place in a laboratory environment by showing participants videos on computers.
Because many autistic individuals cannot sit still in a clinical setting, and because people normally don’t encounter the world in front of a computer, it is not known if these biomarkers are valid in real-life settings. The ASF accelerator grant will enable researchers to expand their study by going out into the community with mobile biomarker measuring devices that allow participants to move freely rather than be tethered to a computer. Data from this portion of the project will provide information about whether specific biomarkers are present in real-world settings. It will also enable researchers to access a broader diversity of participants.
Esther Lindstrom, Ph.D. | Lehigh University
Improving Reading Skills in the Autism Community
Project RISE, based at Lehigh University, is designed to develop new reading instruction strategies for people with intellectual and developmental disabilities. The ASF accelerator grant will expand the focus of Project RISE by targeting a subset of the students who also have autism to investigate the unique needs of these students, as well as the knowledge, perception, and expectations of their teachers. This study will identify gaps in approaches designed to help autistic people learn to read, including how teachers deliver information to students. It will also identify specific gaps in teacher training regarding working with autistic students.
This project is co-sponsored by the Solving the Mystery of Autism Foundation.
Undergraduate Summer Research Grants
Vidya Gadikota | University of North Carolina, Chapel Hill
Mentor: Laura Klinger, Ph.D.
Improving Healthcare Access for Adults with Profound Autism
Adults with profound autism have unique healthcare needs that are often overlooked by providers. This student will expand an existing project to add a cohort of middle and older-aged autistic adults in a residential facility to measure overall health, co-occurring conditions, healthcare quality & satisfaction, and quality of life. Determining how co-morbid health conditions change as autistic adults age will enable services to be delivered that better meet people’s needs.
Kaleb Phelps | University of South Carolina
Mentor: Jessica Bradshaw, Ph.D.
Understanding the Diagnostic Experiences of Black Families
Large gaps exist in healthcare for Black autistic children, yet the lived experiences of these families are rarely investigated or considered when designing research studies. This student will collect data from families, including information about their diagnostic experience and the factors that matter most to them. The results will help researchers and healthcare providers develop culturally competent interventions for Black families across the world.
Olivia Wong | Child Mind Institute
Mentor: Adriana DiMartino, M.D.
Determining the Role of Early Restrictive and Repetitive Behaviors in Downstream Autism Outcomes
Restricted and repetitive behaviors (RRBs) range from hand flapping to debilitating self-injury. This student will investigate the biological basis for the broad range of RRBs by examining the development of the circuits in an area of the brain called the striatum. Pictures of the brain will be collected and analyzed at multiple time points in individuals from 1-4 years of age and matched with the presence and type of RRBs and later outcomes, like real-world function or adaptive behavior. The results will help identify critical windows for brain development when intervention can be most beneficial.
Meagan Tsou | Boston Children’s Hospital
Mentor: Susan Faja, Ph.D.
Examining the impact of early intervention on executive functioning
Executive functioning is the ability to manage daily life, follow directions and handle emotions — and has been reported to be significantly impaired in individuals with ASD. This project will take advantage of an existing longitudinal study to examine the specific role and active ingredients of early intervention from ages 2-4 on executive functioning. The fellow will also examine whether demographic factors, including race and ethnicity, play a role in the effectiveness of the intervention.