Use of a screening tool for dementia in a Down syndrome specialty clinic

Authors studied use of a dementia screening tool in their clinic cohort of adults with Down syndrome. They evaluated the functionality of the NTG-EDSD for Dementia as part of a dementia screening protocol for adults with Down syndrome. To do this they conducted a cohort analysis of patients aged 40 and older followed at the Massachusetts General Hospital Down Syndrome Program, noting any clinical interpretation of dementia or mild cognitive impairment (MCI). From September 2023 to September 2024, 54 NTG-EDSD responses were collected. Of these, 14 patients had a clinical interpretation of dementia and/or MCI, and 40 did not have a clinical interpretation of either. Due to the lack of a defined cutoff for the NTG-EDSD, we evaluated the sensitivity and specificity of the NTG-EDSD across various scoring thresholds: ≥ 30, ≥ 20, ≥ 10, ≥ 5, ≥ 3, ≥ 2, and ≥ 1. Sensitivity decreased, and specificity increased as the threshold score rose. Lower thresholds (e.g., ≥ 1) captured all true positives but at the cost of many false positives, whereas higher thresholds (e.g., ≥ 20) improved specificity and positive predictive value, identifying fewer individuals overall but with greater diagnostic confidence. In a real-world clinical setting, the NTG-EDSD lacks sufficient accuracy as a stand-alone dementia screening tool for adults with Down syndrome but may still be useful for guiding caregiver conversations and identifying the need for further evaluation.

Santoro et al., (2025). Use of a screening tool for dementia in a Down syndrome specialty clinic. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.64251