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Published on: September 20, 2018
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Clinical Manifestations
Laura Del Hoyo1,2, Katja Sandkühler3, Laura Videla4,5
1Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Barcelona, Spain.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
Summary
Standardizing intellectual disability (ID) classification is crucial for accurate Alzheimer's disease (AD) diagnosis in individuals with Down syndrome (DS). Discrepancies between sites can lead to misclassification and unreliable diagnostic cut-offs.
Area of Science:
- Neurology
- Genetics
- Psychiatry
Background:
- Alzheimer's disease (AD) diagnosis in Down syndrome (DS) often relies on cognitive assessment cut-offs stratified by intellectual disability (ID) levels.
- Site-specific ID classification discrepancies can lead to misdiagnosis when applying these cut-offs.
Purpose of the Study:
- To evaluate the impact of inter-site ID classification discrepancies on Alzheimer's disease dementia diagnostic cut-offs (CAMCOG-DS) in adults with Down syndrome.
- To assess the generalizability of site-specific diagnostic criteria.
Main Methods:
- A dual-center cohort study of 673 adults with mild to moderate ID across different stages of AD.
- Analysis of inter-rater agreement for ID classification within and between sites.
- Receiver Operating Characteristic (ROC) analysis to derive CAMCOG-DS cut-offs and assess their performance when applied across cohorts.
Main Results:
- High agreement (95%) for ID classification within sites, but lower agreement (60%) between sites.
- ID classification discrepancies resulted in higher CAMCOG-DS cut-offs in Barcelona compared to Munich for mild and moderate ID.
- Applying site-specific cut-offs to an external cohort significantly reduced diagnostic sensitivity and specificity.
Conclusions:
- Standardization of intellectual disability classification is essential for developing reliable and generalizable cut-offs for diagnosing AD dementia in Down syndrome.
- Neuropsychological assessment in Down syndrome requires consistent ID stratification for accurate Alzheimer's disease diagnosis.
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