Baumer, Nicole MD

Narrative This aim of this Administrative Supplement project is to evaluate the utility of sleep and brain activity data to advance the early detection of autism spectrum disorder (ASD) in young children with Down syndrome (DS). We will leverage ASD-related phenotyping data collected in R01HD110542 and collect sleep actigraphy and fNIRS data concurrently with ASD assessment visits. Evaluating the feasibility of collecting usable data from these measures, and the subsequent use of these measures when feasible, may advance the early detection of co- occurring DS and ASD, identify potential mechanisms that contribute to the onset of ASD in DS, and potentially contribute to the development of novel interventions.

The emergence of crawling and walking is significantly delayed in infants with Down syndrome (DS), but the development of independent mobility provides infants with new opportunities for exploring the environment and interacting with objects and people that are important foundations for early learning. Increasing infant mobility early in development with body weight supported harness systems may support infant exploration, communication, and social interaction. This project will set the stage for the first clinical trial of a mobility-related intervention specifically tailored for infants with DS by developing and refining procedures for collecting data longitudinally in the home, allowing us to deliver a home-based intervention that will be accessible to all families with infants with DS.

This project aims to identify developmental and biomedical markers of risk for autism spectrum disorder (ASD) in young children with Down syndrome to advance early screening procedures. This project will focus on two areas of potential ASD risk: (1) developmental presentation during early childhood and (2) co-occurring biomedical conditions. Results will inform revised recommendations regarding early ASD screening in children with Down syndrome ages 18 to 45 months, which will be disseminated to medical providers, interventionists, and researchers aiming to advance treatment for ASD and other co- occurring conditions associated with Down syndrome.

This project aims to identify early developmental, biomedical, and molecular indicators of risk for severe or profound intellectual disability in young children with Down syndrome (DS). Young children with DS will be assessed at three time points and cognitive outcomes will be analyzed in relation to behavioral, biomedical, and molecular risk factors. Results of this work will promote greater inclusivity in DS research and may facilitate innovations in both biomedical and behavioral intervention.