Brown, Ruth C PHD

Down Syndrome Regression Disorder (DSRD) is a devastating condition that is being increasingly identified and is of growing interest in the Down syndrome (DS) community. This study aims to recruit a large cohort of caregivers of adolescents and young adults with DS to develop and validate the Down Syndrome Regression Rating Scale, a novel low-burden assessment tool to aid in the screening and monitoring of DSRD.

This K08 award will provide the candidate with the training necessary to pursue a multimodal program of research, including the development of assessment tools for depression and stressful life events and the incorporation of clinical and biomarker data to better identify depression in people with Down syndrome (Ds). Given that depressive symptoms are modifiable via psychosocial or pharmacologic intervention, the development of tools to facilitate the recognition of depression in people with Ds could lead to advances in research aimed at reducing the risk (or progression) of depression in this highly vulnerable population.

This request for supplemental funding is associated with active grant “Depression, Stress, and Down Syndrome: A Multimethod Approach to Assessment” (K08 HD092610). This supplemental funding project, which is directly related to Down syndrome, will expand the scope of our research by: (1) conducting a longitudinal mental health surveillance study of the COVID-19 pandemic on caregiver stress and the mental health of their children with Down syndrome; (2) ascertaining a sample of 50 adolescents and young adults with DS reporting the highest and lowest COVID-related stress exposure to conduct a detailed psychiatric profile and buccal cell collection, and (3) assessing DNA methylation, telomere length, and micronuclei frequency in this ascertained sample to identify potential biomarkers associated with COVID-related stress. These studies could aid understanding stress-related sequalae of COVD-19 on psychiatric functioning and acquired genetic/chromosomal instability in people with Down syndrome, and lay the groundwork for efforts to prevent or ameliorate these effects.