Journal Article

DZNE-2026-00291

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.

Wagemann, O. (First author)DZNE* ; Götz, C. ; Wlasich, E. ; Sandkühler, K. ; Prix, C.Extern* ; Stockbauer, A.Extern* ; Marth, L.DZNE* ; Jäck, A.Extern* ; Halbgebauer, S.DZNE* ; Tumani, H.Extern* ; Höglinger, G. U.DZNE* ; Levin, J.DZNE* ; Nübling, G. (Last author)DZNE*

2026
Wiley Hoboken, NJ

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Please use a persistent id in citations: doi:10.1002/alz.71296

Abstract: Individuals with Down syndrome (DS) are at risk for Alzheimer's disease (AD). However, diagnosis remains challenging due to variability of intellectual ability and symptom presentation. To investigate whether serum AD biomarkers enhance accuracy of the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G), we combined test scores with neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) levels.Seventy-eight DS individuals (49% female) completed the DSQIID-G; previous cohort data were added for a pooled sample (n = 164, 47% female). Serum NfL and GFAP were assessed using the automated microfluid Ella system.Combining the DSQIID-G with NfL or GFAP resulted in improved accuracy in every diagnostic subgroup. The Youden index in the pooled samples yielded a cut-off score at 6.5.The DSQIID-G is a robust screening tool and its combination with AD blood biomarkers aids earlier identification of individuals requiring further diagnostics for DS-associated AD.

Keyword(s): Humans (MeSH) ; Down Syndrome: complications (MeSH) ; Down Syndrome: blood (MeSH) ; Female (MeSH) ; Male (MeSH) ; Biomarkers: blood (MeSH) ; Neurofilament Proteins: blood (MeSH) ; Middle Aged (MeSH) ; Cognitive Dysfunction: diagnosis (MeSH) ; Cognitive Dysfunction: blood (MeSH) ; Surveys and Questionnaires (MeSH) ; Glial Fibrillary Acidic Protein: blood (MeSH) ; Germany (MeSH) ; Intellectual Disability: blood (MeSH) ; Intellectual Disability: complications (MeSH) ; Aged (MeSH) ; Dementia: diagnosis (MeSH) ; Dementia: blood (MeSH) ; Adult (MeSH) ; Alzheimer's disease ; Dementia Screening Questionnaire for Individuals with Intellectual Disabilities ; Down syndrome ; blood biomarker ; glial fibrillary acidic protein ; neurofilament light chain ; screening ; Biomarkers ; Neurofilament Proteins ; neurofilament protein L ; Glial Fibrillary Acidic Protein

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Contributing Institute(s):

1. Clinical Research (Munich) (Clinical Research (Munich))

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DEAL Wiley ; Essential Science Indicators ; IF >= 10 ; JCR ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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