Background: Individuals with Down Syndrome (DS) have a distinctive neurocardiovascular system phenotype, characterized by reduced heart rate variability and blunted blood pressure responses; especially during orthostasis (sitting to sanding). They also face a near-universal risk of young-onset Alzheimer’s disease due to Amyloid-precursor-protein gene location on chromosome 21. This combination of neurocardiovascular instability (NCVI) and high Alzheimer’s pathology creates a potential for synergistic neurodegenerative decline, where impaired blood pressure responses could exacerbate cerebral hypoperfusion and further accelerate cognitive deterioration. Despite this, the relationship between NCVI, cognitive function, and functional biomarkers like gait speed remains completely under investigated in this vulnerable population. For many individuals, parts of the brain controlling motor-cognition, gait, and balance are more vulnerable to pathological damage than the parts controlling memory. In these cases, a slowing gait can be one of the very first noticeable signs of the underlying neurogenerative processes, even before memory complaints becomes obvious.
Aim and Hypotheses: This project aims to investigate the relationship between NCVI, cognitive performance, and gait speed in adults with DS. We hypothesise that greater NCVI will be associated with poorer cognitive performance and slower gait speeds.
Objectives and Expected Outcomes: In a cross-sectional study of 15 adults attending the National Intellectual Disability Memory Service, we will 1. Quantify NCVI using beat-to-beat blood pressure monitoring (Finometer) and ECG during an active stand test; 2. Assess cognitive function using the CAMCOG-DS; 3. Measure gait speed using the innovative Gatekeeper app and a GaitRite mat. This work is expected to establish foundational data on this relationship. We will also investigate gait speed as a novel biomarker for stratifying risk of cognitive and functional decline in adults with DS, informing future targeted interventions.