Table 1.
Demographics, cognitive and biomarker data of participants with Down syndrome and controls.
| Control | aDS | pDS | dDS | |
|---|---|---|---|---|
| n | 44 | 240 | 43 | 83 |
| Age (years) (median [IQR]) | 55.75 [47.50, 62.02]* | 37.83 [29.90, 45.58]*+& | 50.27 [48.02, 54.10]& | 53.21 [49.19, 57.14]+ |
| Gender = Male (%) | 21 (47.7) | 132 (55.0) | 22 (51.2) | 42 (50.6) |
| APOEε4 positivity (%) | 10 (23.3) | 47 (19.7) | 10 (23.3) | 19 (23.5) |
| MMSE score (median [IQR]) | 30.00 [29.00, 30.00] | |||
| CAMCOG score (median [IQR]) | 77.00 [62.00, 86.00]+& | 61.00 [46.50, 73.50]&^ | 41.00 [30.00, 55.00]+^ | |
| Degree of disability (%) | ||||
| Mild | 68 (28.3) | 7 (16.3) | 5 (6.0) | |
| Moderate | 120 (50.0) | 18 (41.9) | 49 (59.0) | |
| Severe/Profound | 52 (21.7) | 18 (41.9) | 29 (34.9) | |
| plasma p-tau181 (pg/ml) (median [IQR]) | 9.31 [7.46, 13.82]$# | 11.36 [8.10, 16.01]+& | 21.72 [16.55, 37.02]&^ | 32.58 [23.67, 44.57]+$^ |
| plasma NfL (pg/ml) (median [IQR]) | 3.38 [2.89, 4.16]$#* | 5.93 [4.43, 10.25]+&* | 13.61 [11.50, 18.26]&^ | 23.86 [17.33, 33.65]+$^ |
| CSF Aβ42/Aβ40 (median [IQR]) | 0.11 [0.10, 0.11]$#* | 0.08 [0.06, 0.09]+&* | 0.04 [0.04, 0.05]& | 0.05 [0.04, 0.05]+$ |
| CSF t-tau (pg/ml) (median [IQR]) | 239.00 [181.75, 295.50]$# | 309.00 [163.00, 446.00]+& | 711.50 [467.25, 1112.50]& | 963.00 [653.00, 1222.00]+$ |
| CSF p-tau (pg/ml) (median [IQR]) | 32.15 [24.55, 41.52]$# | 29.80 [17.30, 51.20]+& | 111.90 [69.30, 201.07]& | 152.80 [93.40, 192.80]+$ |
| CSF NfL (pg/ml) (median [IQR]) | 362.00 [260.10, 497.56]$# | 365.00 [233.30, 507.60]+& | 705.05 [645.00, 1027.05] &^ | 1201.00 [893.58, 1625.00]+$^ |
| SUVR 18F-FBP (median [IQR]) | 1.15 [1.09, 1.20]+& | 1.35 [1.17, 1.43]& | 1.33 [1.30, 1.34]+ | |
| SUVR 18F-FDG (median [IQR]) | 1.35 [1.26, 1.41] +& | 1.11 [1.07, 1.30]&^ | 0.82 [0.74, 0.93]+^ |
N sample, IQR interquartile range, ID intellectual disability, CSF cerebrospinal fluid, Aβ Amyloid-β, NfL neurofilament light protein, FDG 18-fluorodeoxyglucose, SUVR Standardized Uptake Value Ratio. aDS asymptomatic Down syndrome, pDS prodromal Alzheimer’s disease Down syndrome, dDS Alzheimer’s disease dementia Down syndrome, Controls euploid healthy controls.
Symbols designate significant differences between groups: control-aDS (*), control-pDS (#), control-dDS ($), aDS-pDS (&), aDS-dDS (+) and pDS-dDS (^).