Genetic/Congenital/Developmental Condition

Social-emotional development in children with neurofibromatosis type 1, Noonan Syndrome and unaffected siblings

Principal Investigator:

Rene Pierpont, PhD (Department of Pediatrics)

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Collaborators:

Rebekah Hudock, PhD (Department of Pediatrics), Margaret Semrud-Clikeman, PhD (Department of Pediatrics), Christopher Moertel, MD (Department of Pediatrics)

Abstract:

Neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are genetic syndromes affecting multiple systems in the body. They are also called "RASopathies" because they are caused by mutations in the RAS-MAPK signaling pathway. Past research has shown that children with RASopathies are at risk for neuropsychological deficits, including problems with attention and other aspects of behavior. The purpose of the current study is to better understand social competencies of children with NF1 and NS and to identify risk factors for social difficulties. We hypothesize that children with NF1 and NS will demonstrate greater problems with social competency that their unaffected peers. We will examine the relationship between overall ratings of social competency and more specific risk factors (i.e., social anxiety, poor social communication, and poor social cognition).

SPARK: Simons Foundation powering autism research for knowledge, a national cohort of individuals and families affected by autism spectrum disorder protocol

Principal Investigator:

Suma Jacob, MD, PhD (Department of Psychiatry)

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Collaborators:

Amy Esler, PhD (Department of Pediatrics)

Abstract:

The purpose of SPARK : Simons Foundation Powering Autism Research for Knowledge (hereinafter referred to as SPARK) is to recruit, engage, and retain a community of 50,000 individuals with ASD along with their family members in the United States to identify the causes of ASD, accelerate clinical research by providing the autism research community with a genotyped cohort of consented participants, and establish a research cohort of individuals and families with ASD. The data generated will facilitate identification of additional genes that contribute strongly to ASD and define their corresponding genotype-phenotype relationships. Data from this cohort will also help identify additional non-genetic causes of ASD. A long term goal of SPARK is to enable genotype-driven clinical research in ASD, which may translate into genotype-driven therapeutics and treatment of ASD. This type of ‘precision medicine’ approach is an emerging strategy for disease treatment and prevention that takes into account individual genetic variability, environment, and lifestyle. Noteworthy advances in precision medicine have been made for specific cancers, but the methodology is not currently available for most diseases. Many researchers are working towards precision medicine, and SPARK is one such project. A limited data set from this study will be made available to qualified researchers, so that scientific and treatment advances can be made as rapidly as possible.

The development of attentional orienting to semantic salience in infancy: Concurrent associations between visual orienting and white matter development

Principal Investigator:

Jed Elison, PhD (Institute of Child Development)

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Collaborators:

Robin Sifre, Graduate Student (Institute of Child Development)

Abstract:

While a large body of work has charted the emergence of selective attention, less is known about the role that orienting to semantic salience plays in selective attention. Specifically, to what extent can experience with a stimulus modify its semantic salience, and how does the developing brain integrate these modifications into attentional biases? We intend to assess the extent to which reward-modulated semantic salience captures attention in infancy, and how structural brain development supports these abilities. We will focus on 7 to 9 months for two reasons: First, this period marks an important transition toward more sophisticated selective attention; thus, there should be high variability in orienting to semantic salience during this transition. Structural variability in neural circuitry could function as one source of this variance. Second, there is growing evidence suggesting that the social deficits observed in individuals with autism spectrum disorder (ASD) may be traced back to early differences in attention orienting and its relation to white matter microstructure at this age. This project will provide the first normative developmental trajectory of 1) infants’ attentional orienting to semantic salience, and 2) the white matter fiber bundles supporting this orienting ability, as a key first step toward studying this construct in infants considered at high-risk for ASD.

Utilizing eye-tracking to study the normative trajectory of social information processing

Principal Investigator:

Suma Jacob, M.D., Ph.D. (Department of Psychiatry)

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Collaborators:

Sunday Francis, PhD (Department of Psychiatry), Amy Esler, PhD (Department of Pediatrics)

Abstract:

Social information processing includes many behaviors, deficits in some of these behaviors have been observed in autism spectrum disorder (ASD) individuals through behavioral and neuroimaging studies. These impairments emerge early in development and persist over time, and may in part be related to atypical eye movements during assessment of visual stimuli containing social information.

We propose to examine the normal distribution of social information processing and how these capacities differ in our existing cohort of ASD individuals. The developmental trajectories of social information processing change over time, and need to be thoroughly characterized across a broad age of NTs and ASD individuals. Our clinical research team is currently studying novel drug treatments that improve social functioning throughout development. However, treatment outcome measures that reliability document changes in social information processing are limited in ASD. Studies of novel pharmacological and non-pharmacological interventions would benefit from a non-invasive, easily measured, and accessible outcome measure that would provide a measurement of treatment efficacy. By collecting eye tracking and physiological data in typically developing individuals as they perform electronic visual tasks we aim to map the trajectory of social information processing in NTs. Improved characterization of the distribution of social information processing capacities in a neuro-typical cohort will provide a unique platform with which to compare individuals with neurodevelopmental disorders (NDDs).

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