Collaborations NTG

Project: Establishing Best Practices and Assessment Tools for Staging Dementia in Adults with Down Syndrome

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Phase 1 – Expert Survey

 

The project began with the design and distribution of a structured, online survey that explored four core issues: (1) clinical symptom stages of dementia in adults with Down syndrome (DS); (2) implications for day‑to‑day clinical practice; (3) research priorities; and (4) the relevance of staging for clinical trials. Using a snowball‑sampling strategy, the survey was first sent to an international pool of recognized DS‑Alzheimer’s disease (DS‑AD) researchers and diagnosticians. Recipients were asked to complete the survey and forward it to additional colleagues identified through scientific publications and professional networks, broadening participation and ensuring a diverse range of expert opinions.

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Phase 2 – Consensus Panel Review

Survey results were then reviewed by a multidisciplinary DS‑AD Clinical Staging Consensus Panel. The panel’s tasks were to validate the survey findings, integrate additional clinical insights, and develop consensus recommendations on:

• refined diagnostic criteria for mild cognitive impairment in DS (MCI‑DS) and DS‑AD;

• the most reliable assessment tools for each disease stage; and

• standardized staging benchmarks to track progression.

Panelists also weighed the sensitivity, specificity, and practical feasibility of commonly used screening instruments in both specialist clinics and community settings.

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To support these deliberations, two in‑depth technical reports were commissioned:

1. Differential Diagnosis (“Rule‑Outs”) – a systematic review of medical, psychiatric, and environmental conditions that can mimic dementia symptoms in adults with DS, outlining strategies to distinguish them from true neurodegeneration.

2. Instrument Scoring Thresholds – an analysis of DS‑AD–specific cognitive and functional tests, highlighting score cut‑points that best correspond to dementia stages.

These documents served as key reference materials during consensus discussions.

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Phase 3 – Integrated Report and Manuscript Preparation

Finally, project leads synthesized survey data, panel deliberations, and technical analyses into a comprehensive study report. Working closely with the consensus panel, they drafted and refined a peer‑review‑ready manuscript that presents:

• agreed‑upon staging criteria for MCI‑DS and DS‑AD;

• recommended assessment instruments and scoring guidelines; and

• priorities for future research, including the development of biomarker‑based cut‑points.

The resulting guidelines are intended to standardize clinical practice, inform ongoing clinical trials, and support the wider adoption of evidence‑based diagnostic protocols for dementia in adults with Down syndrome.

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