Autism

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Gender Exploration of Neurogenetics and Development to Advance Autism Research

PI: Charles A. Nelson, PhD

Participants: Children between the ages of 8 to 17 years old that fit into one of these three groups:

  • Children who have an ASD diagnosis
  • Children who are typically developing with a sibling with an ASD diagnosis
  • Children who are typically developing without a sibling with an ASD diagnosis

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The current study is part of the Autism Center of Excellence (ACE Network) which includes researchers from Yale University, UCLA, the University of Washington, and Boston Children’s Hospital. The purpose of this study is to identify gender differences in brain structure, function, connectivity, and genetics in children and adolescents with autism spectrum disorders (ASD). Currently, autism spectrum disorders affect more males than females. Research indicates that males are 15 times more likely to be diagnosed with ASD. By learning more about these gender differences, we aim to improve techniques for diagnosis and interventions. In order to thoroughly investigate the questions we are asking, we will be using a variety of methods: neuropsychological testing, EEG, fMRI and a genetics portion. For this study, we will be enrolling three groups of children: children diagnosed with an ASD, siblings of children with an ASD diagnosis, and typically developing children without a brother or sister with an ASD.

For full participation details, click here

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Imitative Behaviors in Children with ASD (and their unaffected siblings)

PI: Charles A. Nelson, PhD

Participants: Children ages 3.5-6 years, with or without an ASD diagnosis, who have siblings with or without an ASD diagnosis.

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Previous research has shown that children with autism show differences in how they imitate other people's actions. In one study, typically developing children were found to imitate only those actions that experimenters performed intentionally, whereas children with ASD imitated both intentional and accidental actions. This suggests that children with ASD may have difficulty understanding the intentions of others, a skill that is important for successfully navigating the social world. By recording brain and eye activity while children perform tasks related to imitation and theory of mind--the ability to understand what another person is thinking--we aim to gain insight into how children with ASD attend to and perceive others actions, and how this may be different from both typically developing children and the unaffected siblings of children with ASD. By learning more about the neural networks associated with these behaviors we hope to better understand how children navigate their social world and to improve the design of learning environments and interventions for children with ASD. 

For full participation details, click here

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ASD and Tuberous Sclerosis Complex

PI: Charles A. Nelson, PhD

Participants: Typically developing infants 3 to 12 months of age who have no history of pre or postnatal difficulties, and infants with TSC from 3 to 24 months of age

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Together with the University of California, Los Angeles, we are investigating the development of Tuberous Sclerosis Complex (TSC), a genetic disorder. Up to 60% of children with TSC develop autism, but often the diagnosis is not made until much later in childhood. Our aim is to identify pathways to earlier identification of autism spectrum disorders, which leads to earlier interventions and, hopefully, better behavioral outcomes.

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. TSC is characterized by the widespread growth of benign, tumor-like nodules called hamartomas in multiple organ systems, including the brain. It is strongly associated with cognitive impairment, behavioral disturbances, and autism spectrum disorders (ASD), and these neurodevelopmental disorders can cause significant disability from early infancy through adulthood. Cognitive impairment has been reported in 44-80% of individuals with TSC, ranging from learning disabilities to more profound intellectual impairment.

We are using behavioral tests as well as measures of the brain’s electrical response to faces to characterize the development of children with and without TSC and evaluate their risk for autism. We will follow infants from age three months through age three, at which time they will be evaluated for autism concerns. We will then determine if any early abnormalities in behavior and face processing can predict autism in these infants.

For full participation details, click here

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16p

PI: Charles A. Nelson, PhD

Participants: Children ages 3 to 17 with confirmed 16p deletions/duplications, and children ages 3 to 17 that are typically developing

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Autism is the most prevalent developmental disorder in the United States; however, the genetic and environmental underpinnings remain elusive. The main goal of this project is to establish and expand a set of investigative measures that researchers can use to evaluate a child’s level of risk for autism spectrum disorders. In particular, we are interested in participants who have a genetic change that is well defined. Individuals with 16p11.2 deletions are missing a specific section in one of their two chromosomes 16s. Those with 16p11.2 duplications have a specific extra section. In general, children with 16p deletions/duplications are at an increased risk for developing autism and other neurodevelopmental disorders.

During this study we will use two non-invasive methods (EEG and Near-Infrared Spectroscopy) to collect neuroimaging data as children view pictures of faces, objects, and checkerboards, and listen to recordings of familiars words and mixed-up sentences. Each of these tasks is designed to elicit a specific neural response, and will tell use about cognitive processing related to the stimuli. Children with autism and other developmental disorders have different processing patterns than those who are typically developing. Our goal is to better characterize these differences so that we can use them as a meaningful tool in learning more about pathogenesis, diagnosis and treatment of the disorder.

Our cognitive processing study is happening in conjunction with other laboratories, in the Boston area and around the United States that are examining different aspects of development in children with 16p deletions/duplications such as family history, epigenetics, and behavioral phenotype. Together, we hope to contribute to a better understanding of autism spectrum disorders and design more effective diagnostic tools for early detection and treatment.

For full participation details, click here

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Response to Changes in Facial Emotional Expression

PI: Charles A. Nelson, PhD

Participants: Young adults ages 18-22 years old with autism spectrum disorder 

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The ability to perceive and identify emotions in faces is crucial to maintaining successful social interactions, and it is often an area of difficulty for individuals with ASD. Although many researchers have explored behavioral and brain responses to ‘prototypical’ facial expressions (that is, very extreme examples of emotion), much less is known about how we respond to the more subtle expressions that characterize our daily interactions and to what degree that ability changes as we get older.

This study is designed to learn more about how the brains of both children and adults respond to expressions of different emotions of varying intensities and whether our behavioral responses to these expressions are consistent with the brain’s response. For example, does our brain detect an emotion in a face even when we don’t think we’ve seen one. Finally, we are curious to learn whether where we look on a face (for instance, at the eyes or the mouth) plays a role in our response to emotional faces.

This study will include both typically developing individuals and individuals with an autism spectrum disorder, and we hope that the findings will shed light on the specific areas of strength and difficulty for individuals with ASD. By gaining better insight into the complexities of emotional face processing, we may be able to contribute to a better understanding of the disorder and the design of more effective intervention programs and therapies.

For full participation details, click here

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The Infant Sibling Project

PI: Charles A. Nelson, PhD

We apologize, we are not currently enrolling participants for this study.

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The goal of this project is to identify risk markers for autism spectrum disorders (ASD) that may be present during the first few months of life, before a diagnosis of ASD is currently possible. If we can move diagnosis back to the first year of life, then early intervention, which is known to have a significant positive impact on children with these disorders, can begin much earlier than is currently possible. Because we are interested in developmental changes in both brain and behavior, this study is longitudinal and involves multiple visits to the Labs of Cognitive Neuroscience up until age two, and a follow up visit at age three. We also ask that families maintain a home diary to help us track their baby's development.

For full participation details, click here

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