Discrepancies in assessing intellectual disability levels in adults with Down syndrome: Implications for dementia diagnosis.

Cut-offs derived from baseline cognitive assessments, stratified by intellectual disability (ID) level, have been proposed to diagnose symptomatic Alzheimer's disease (AD) in Down syndrome (DS). However, discrepancies in ID classification risk misclassification when applying cut-offs across sites.This dual-center cohort study included 673 adults with mild to moderate ID at different AD stages. We assessed ID classification discrepancies across sites and the impact on Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) cut-offs for AD dementia diagnosis derived from receiver operating characteristic analysis.Inter-rater agreement for ID level classification was 95% within sites but 60% between sites. While CAMCOG-DS score distributions in the whole cohort were similar across sites, ID classification discrepancies caused higher cut-offs in Barcelona for mild and moderate ID compared to Munich. Applying site-specific cut-offs to another cohort reduced sensitivity and specificity.Standardizing ID classification is critical for generalizable cut-offs to accurately diagnose AD dementia based on neuropsychological assessments in DS.CAMCOG-DS cut-offs by intellectual disability level classify dementia in Down syndrome. ID classification discrepancies between sites impact CAMCOG-DS diagnostic cut-offs. Applying site-specific cut-offs to other cohorts reduces sensitivity and specificity. Standardized ID classification is essential for generalizable cognitive cut-offs. Use site-specific cut-offs until ID classification is standardized.

Publication Details

Journal
DZNE Pub
Published
2025-01-01
Primary Topic
Down syndrome and intellectual disability research
Type
article
Field-Weighted Citation Impact
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article

Discrepancies in assessing intellectual disability levels in adults with Down syndrome: Implications for dementia diagnosis.

DZNE Pub
Down syndrome and intellectual disability research
article

Discrepancies in assessing intellectual disability levels in adults with Down syndrome: Implications for dementia diagnosis.

article en

Abstract

Cut-offs derived from baseline cognitive assessments, stratified by intellectual disability (ID) level, have been proposed to diagnose symptomatic Alzheimer's disease (AD) in Down syndrome (DS). However, discrepancies in ID classification risk misclassification when applying cut-offs across sites.This dual-center cohort study included 673 adults with mild to moderate ID at different AD stages. We assessed ID classification discrepancies across sites and the impact on Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) cut-offs for AD dementia diagnosis derived from receiver operating characteristic analysis.Inter-rater agreement for ID level classification was 95% within sites but 60% between sites. While CAMCOG-DS score distributions in the whole cohort were similar across sites, ID classification discrepancies caused higher cut-offs in Barcelona for mild and moderate ID compared to Munich. Applying site-specific cut-offs to another cohort reduced sensitivity and specificity.Standardizing ID classification is critical for generalizable cut-offs to accurately diagnose AD dementia based on neuropsychological assessments in DS.CAMCOG-DS cut-offs by intellectual disability level classify dementia in Down syndrome. ID classification discrepancies between sites impact CAMCOG-DS diagnostic cut-offs. Applying site-specific cut-offs to other cohorts reduces sensitivity and specificity. Standardized ID classification is essential for generalizable cognitive cut-offs. Use site-specific cut-offs until ID classification is standardized.

DZNE Pub
Alzheimer's Association, Stiftung VERUM, “la Caixa” Foundation, European Commission, Deutsche Forschungsgemeinschaft, Fondation Jérôme Lejeune, Generalitat de Catalunya, Ludwig-Maximilians-Universität München, Fundación Tatiana Pérez de Guzmán el Bueno, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, National Institutes of Health, Horizon 2020 Framework Programme, Instituto de Salud Carlos III, European Regional Development Fund
Quality Education
Openalex Percentile: Top 38%
Down syndrome and intellectual disability research
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Discrepancies in assessing intellectual disability levels in adults with Down syndrome: Implications for dementia diagnosis. · DZNE Pub (2025) | TGRS Research Map | TGRS