Table 7.
Relations between mosaicism and Alzheimer's disease and cognitive phenotypes.
| Cognitive characteristic | ABC-DS (N = 357) |
Legacy (N = 468) |
||||
|---|---|---|---|---|---|---|
| Full trisomy (N = 331) | Mosaic (N = 26) | p or β(p) | Full trisomy (N = 423) | Mosaic (N = 45) | OR/β(p) | |
| Premorbid intellectual disability (% Mild) | 51.7% | 53.8% | 0.87 (0.73) | 30.5% | 35.6% | 0.53 (0.07) |
| % AD baseline | 11.8% | 19.2% | 1.26 (0.23) | 9.0% | 8.9% | 0.13 (0.02) |
| % AD converters | 10.4% | 14.3% | 0.87 (0.85) | 32.9% | 21% | 0.24 (0.0015) |
| Age at onset | ||||||
| Mean (SD) | 54.5 (5.8) | 53.5 (7.8) | 0.09 (0.87) | 57.1 (5.3) | 63.7 (9.4) | −0.32 (0.81) |
| Range | 45–68 | 48.0–59.0 | 43.3–75.3 | 51.4–80.4 | ||
| DSMSE baseline | ||||||
| Mean (SD) | 59 (16) | 52.8 (20.9) | −1.10 (0.66) | 52.3 (24.9) | 49.6 (25.3) | 0.65 (0.84) |
| Range | 4–83 | 9.5–84.0 | 0–97 | 0–94 | ||
| DSMSE at last visit | ||||||
| Mean (SD) | 59 (16.9) | 55.1 (20) | −3.72 (0.26) | 37.0 (29.4) | 43.2 (26.7) | 4.62 (0.2) |
| Range | 0–82 | 11.5–83.5 | 0–94.5 | 0–95 | ||
| Change baseline –last visit DSMSEa | ||||||
| Mean (SD) | −1.58 (8.2) | −3.7 (8.5) | −1.78 (0.35) | −16.7 (21.5) | −10.9 (14.6) | 8.26 (0.014) |
| Range | −32.5–28.0 | −18.5–15.5 | −83.0–33.5 | −64.5–6.0 | ||
| Annualized change | ||||||
| Mean (SD) | −1.06 (6.9) | −1.57 (6.1) | −0.76 (0.64) | −3.3 (4.8) | −3.29 (5.7) | 1.1 (0.17) |
| Range | −23.5–28.0 | −9.3–15.5 | −29.1–16.4 | −31.7–2.5 | ||
For continuous traits, linear models were applied, adjusting for sex assigned at birth, dementia status at visit, age at visit, and level of premorbid intellectual disability. For dementia status logit binomial models were applied, adjusting for sex assigned at birth, age at visit/age at onset, and level of premorbid intellectual disability. A similar model was used for premorbid intellectual disability, adjusting for sex assigned at birth and age at visit. Changes from the baseline were adjusted for sex assigned at birth, dementia status at the last visit, age at last visit, time difference between first and last visit, level of premorbid intellectual disability, and baseline values of DSMSE. For the age at onset of AD, linear models were corrected for age at first visit, sex assigned at birth, and premorbid intellectual impairment.
Difference between the last visit and the baseline measure.