Discrepancies in assessing intellectual disability levels in adults with Down syndrome: Implications for dementia diagnosis
Por:
Soriano, LD, Sandkühler, K, Videla, L, Benejam, B, Carmona-Iragui, M, Wlasich, E, Kustermann, J, Barroeta, I, Vaqué-Alcázar, L, Rodríguez-Baz, I, Bejanin, A, Fernández, S, Arranz, J, Arriola-Infante, JE, Maure-Blesa, L, Juan, AS, Nübling, G, Wagemann, O, Stockbauer, A, Hassenstab, J, Levin, J, Fortea, J
Publicada:
1 jun 2025
Resumen:
INTRODUCTIONCut-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. METHODSThis 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. RESULTSInter-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. DISCUSSIONStandardizing ID classification is critical for generalizable cut-offs to accurately diagnose AD dementia based on neuropsychological assessments in DS.
Filiaciones:
Soriano, LD:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Sandkühler, K:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
Videla, L:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Barcelona Med Ctr, Fundacio Catalana Sindrome Down, Barcelona, Spain
Benejam, B:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Barcelona Med Ctr, Fundacio Catalana Sindrome Down, Barcelona, Spain
Carmona-Iragui, M:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Barcelona Med Ctr, Fundacio Catalana Sindrome Down, Barcelona, Spain
Wlasich, E:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
Kustermann, J:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
Barroeta, I:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Vaqué-Alcázar, L:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Univ Barcelona, Inst Neurosci, Fac Med & Hlth Sci, Dept Med, Barcelona, Spain
Inst Invest Biomed August Pi I Sunyer IDIBAPS, Barcelona, Spain
Rodríguez-Baz, I:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Bejanin, A:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Fernández, S:
Barcelona Med Ctr, Fundacio Catalana Sindrome Down, Barcelona, Spain
Arranz, J:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Arriola-Infante, JE:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Maure-Blesa, L:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ctr Biomed Invest Network Neurodegenerat Dis CIBER, Madrid, Spain
Juan, AS:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Nübling, G:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
German Ctr Neurodegenerat Dis DZNE, Munich, Germany
Wagemann, O:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
German Ctr Neurodegenerat Dis DZNE, Munich, Germany
Stockbauer, A:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
German Ctr Neurodegenerat Dis DZNE, Munich, Germany
Hassenstab, J:
Washington Univ, Dept Neurol, St Louis, MO USA
Washington Univ, Dept Psychol & Brain Sci, St Louis, MO USA
Levin, J:
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
Washington Univ, Dept Neurol, St Louis, MO USA
Washington Univ, Dept Psychol & Brain Sci, St Louis, MO USA
Munich Cluster Syst Neurol SyNergy, Munich, Germany
Fortea, J:
Hosp Santa Creu i St Pau, Biomed Res Inst St Pau, Dept Neurol, St Pau Memory Unit, C St Quinti 77-79,Pavil 18,2nd Floor,Off 42, Barcelona 08041, Spain
Ludwig Maximilians Univ LMU Munich, Univ Hosp, Dept Neurol, Munich, Germany
Barcelona Med Ctr, Fundacio Catalana Sindrome Down, Barcelona, Spain
Green Submitted, hybrid
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