Table 2. CBI total and sub-scale scores at baseline and over time for at-risk family members by genetic group (no outliers included).
| Baseline# | Change Score | |||||
|---|---|---|---|---|---|---|
| N | Estimate (95% CI) | p-value | N | Estimate (95% CI) | p-value | |
| Total Score | 588 | 336 | ||||
| C9orf72 | 104 | 1.34 (0.78, 2.31) | 0.29 | 0.28 (−1.42, 1.97) | 0.75 | |
| GRN | 138 | 0.95 (0.52, 1.73) | 0.86 | 0.38 (−0.8, 1.56) | 0.53 | |
| MAPT | 52 | 1.96 (0.88, 4.38) | 0.1 | 0.39 (−1.37, 2.15) | 0.66 | |
| YEO | 1.02 (1, 1.03) | 0.02 | 0.03 (−0.01, 0.07) | 0.11 | ||
| Baseline score | - | - | −0.15 (−0.21, −0.1) | <.0001 | ||
| C9orf72*YEO | 1 (0.98, 1.03) | 0.8 | 0.01 (−0.08, 0.11) | 0.78 | ||
| GRN*YEO | 1 (0.97, 1.03) | 0.87 | −0.02 (−0.08, 0.05) | 0.63 | ||
| MAPT*YEO | 1 (0.96, 1.05) | 0.85 | −0.01 (−0.12, 0.1) | 0.86 | ||
| Memory and Orientation | 588 | 334 | ||||
| C9orf72 | 104 | 0.88 (0.51, 1.52) | 0.65 | 49 | −0.02 (−0.41, 0.37) | 0.92 |
| GRN | 138 | 1.03 (0.56, 1.89) | 0.92 | 85 | −0.03 (−0.3, 0.25) | 0.85 |
| MAPT | 52 | 0.89 (0.39, 2.03) | 0.78 | 33 | −0.01 (−0.42, 0.41) | 0.98 |
| YEO | 1.03 (1.01, 1.04) | 0.001 | 0.01 (0.002, 0.02) | 0.02 | ||
| Baseline score | - | - | −0.18 (−0.23, −0.13) | <.0001 | ||
| C9orf72*YEO | 0.98 (0.96, 1.01) | 0.29 | −0.003 (−0.02, 0.02) | 0.74 | ||
| GRN*YEO | 1.01 (0.98, 1.04) | 0.47 | −0.002 (−0.02, 0.01) | 0.78 | ||
| MAPT*YEO | 0.99 (0.95, 1.03) | 0.59 | 0.0003 (−0.02, 0.03) | 0.98 | ||
| Everyday Skills | 588 | 335 | ||||
| C9orf72 | 104 | 0.77 (0.09, 6.56) | 0.81 | 50 | 0.07 (−0.01, 0.14) | 0.09 |
| GRN | 138 | 0.71 (0.1, 4.92) | 0.72 | 85 | 0.11 (0.05, 0.16) | 0.0001 |
| MAPT | 52 | 1.08 (0.05, 22.27) | 0.96 | 32 | 0.03 (−0.06, 0.11) | 0.53 |
| YEO | 1.03 (0.97, 1.09) | 0.34 | 0.001 (0, 0) | 0.57 | ||
| Baseline score | - | - | −0.5 (−0.55, −0.45) | <.0001 | ||
| C9orf72*YEO | 1 (0.89, 1.13) | 0.96 | 0.003 (0, 0.01) | 0.21 | ||
| GRN*YEO | 1.05 (0.93, 1.2) | 0.42 | 0.003 (0, 0.01) | 0.07 | ||
| MAPT*YEO | 0.96 (0.82, 1.11) | 0.57 | 0.0002 (0, 0.01) | 0.95 | ||
| Abnormal Behaviour | 588 | 334 | ||||
| C9orf72 | 104 | 2.16 (1.09, 4.26) | 0.03 | 48 | −0.02 (−0.3, 0.25) | 0.86 |
| GRN | 138 | 0.83 (0.36, 1.91) | 0.67 | 86 | −0.03 (−0.22, 0.15) | 0.73 |
| MAPT | 52 | 2.07 (0.8, 5.38) | 0.14 | 33 | −0.02 (−0.3, 0.26) | 0.89 |
| YEO | 1 (0.98, 1.02) | 0.9 | 0.004 (0, 0.01) | 0.19 | ||
| Baseline score | - | - | −0.23 (−0.28, −0.18) | <.0001 | ||
| C9orf72*YEO | 1.02 (0.98, 1.06) | 0.37 | −0.006 (−0.02, 0.01) | 0.47 | ||
| GRN*YEO | 1 (0.96, 1.04) | 0.99 | −0.007 (−0.02, 0) | 0.23 | ||
| MAPT*YEO | 0.99 (0.95, 1.04) | 0.77 | −0.0033 (−0.02, 0.01) | 0.71 | ||
| Mood | 587 | 334 | ||||
| C9orf72 | 104 | 1.22 (0.7, 2.12) | 0.49 | 49 | −0.07 (−0.47, 0.34) | 0.75 |
| GRN | 137 | 0.46 (0.23, 0.93) | 0.03 | 84 | 0.18 (−0.11, 0.47) | 0.2 |
| MAPT | 52 | 2.75 (1.29, 5.89) | 0.01 | 33 | 0.38 (−0.05, 0.81) | 0.08 |
| YEO | 1.01 (0.99, 1.03) | 0.26 | −0.002 (−0.01, 0.01) | 0.7 | ||
| Baseline score | - | - | −0.23 (−0.28, −0.18) | <.0001 | ||
| C9orf72*YEO | 1 (0.97, 1.03) | 0.80 | −0.018 (−0.04, 0) | 0.11 | ||
| GRN*YEO | 0.97 (0.94, 1) | 0.05 | −0.003 (−0.02, 0.01) | 0.73 | ||
| MAPT*YEO | 1.01 (0.97, 1.05) | 0.58 | 0.0031 (−0.02, 0.03) | 0.81 | ||
| Beliefs | 340 | |||||
| C9orf72 | 49 | −0.004 (−0.02, 0.01) | 0.56 | |||
| GRN | 86 | −0.01 (−0.02, 0.0014) | 0.097 | |||
| MAPT | 33 | −0.01 (−0.02, 0.01) | 0.46 | |||
| YEO | 0.00007 (−0.0002, 0.0004) | 0.62 | ||||
| Baseline score | −0.38 (−0.41, −0.34) | <.0001 | ||||
| C9orf72*YEO | −0.00017 (−0.0009, 0.0005) | 0.64 | ||||
| GRN*YEO | −0.00017 (−0.0007, 0.0004) | 0.52 | ||||
| MAPT*YEO | −0.0001 (−0.0009, 0.0007) | 0.86 | ||||
| Eating habits | 588 | 335 | ||||
| C9orf72 | 104 | 0.61 (0.16, 2.32) | 0.46 | 49 | −0.02 (−0.2, 0.16) | 0.83 |
| GRN | 138 | 1.57 (0.46, 5.39) | 0.47 | 86 | 0 (−0.13, 0.1247) | 0.99 |
| MAPT | 52 | 0.68 (0.1, 4.82) | 0.70 | 32 | 0.1 (−0.09, 0.29) | 0.29 |
| YEO | 1.05 (1.01, 1.09) | 0.01 | 0.0041 (0.0001, 0.008) | 0.04 | ||
| Baseline score | - | - | −0.35 (−0.39, −0.31) | <.0001 | ||
| C9orf72*YEO | 0.96 (0.89, 1.03) | 0.25 | −0.006 (−0.02, 0.005) | 0.28 | ||
| GRN*YEO | 1 (0.94, 1.07) | 0.91 | −0.00002 (−0.007, 0.007) | 0.996 | ||
| MAPT*YEO | 0.95 (0.87, 1.05) | 0.35 | 0.003 (−0.008, 0.01) | 0.6 | ||
| Sleep | 588 | 334 | ||||
| C9orf72 | 104 | 1.4 (0.75, 2.64) | 0.29 | 49 | −0.13 (−0.39, 0.13) | 0.33 |
| GRN | 138 | 1.16 (0.56, 2.39) | 0.68 | 86 | 0.05 (−0.14, 0.23) | 0.62 |
| MAPT | 52 | 3.37 (1.46, 7.74) | 0.004 | 32 | 0.02 (−0.26, 0.3) | 0.89 |
| YEO | 1.03 (1.01, 1.05) | 0.01 | −0.0009 (−0.007, 0.005) | 0.76 | ||
| Baseline score | - | - | −0.28 (−0.33, −0.22) | <.0001 | ||
| C9orf72*YEO | 1.01 (0.97, 1.05) | 0.56 | −0.008 (−0.02, 0.006) | 0.25 | ||
| GRN*YEO | 1 (0.96, 1.04) | 0.86 | 0.003 (−0.008, 0.01) | 0.63 | ||
| MAPT*YEO | 1.03 (0.98, 1.08) | 0.26 | −0.005 (−0.02, 0.01) | 0.54 | ||
| Stereotypic and motor behaviours | 588 | 335 | ||||
| C9orf72 | 104 | 2.15 (1.05, 4.39) | 0.04& | 49 | −0.12 (−0.42, 0.18) | 0.44 |
| GRN | 138 | 1.07 (0.46, 2.52) | 0.87 | 86 | 0.08 (−0.13, 0.28) | 0.47 |
| MAPT | 52 | 1 (0.31, 3.23) | 0.999 | 32 | 0.002 (−0.31, 0.32) | 0.99 |
| YEO | 1.02 (1, 1.05) | 0.05 | 0.0079 (0.001, 0.01) | 0.02 | ||
| Baseline score | - | - | −0.3 (−0.37, −0.24) | <.0001 | ||
| C9orf72*YEO | 1.03 (0.98, 1.07) | 0.23 | −0.01 (−0.03, 0.007) | 0.23 | ||
| GRN*YEO | 1 (0.96, 1.05) | 0.96 | 0.0001 (−0.01, 0.01) | 0.99 | ||
| MAPT*YEO | 0.94 (0.89, 1) | 0.05 | 0.002 (−0.02, 0.02) | 0.86 | ||
| Motivation | 587 | 330 | ||||
| C9orf72 | 104 | 1.91 (0.72, 5.06) | 0.19 | 49 | 0.093 (−0.19, 0.38) | 0.52 |
| GRN | 138 | 0.93 (0.31, 2.75) | 0.9 | 84 | 0.02 (−0.19, 0.22) | 0.88 |
| MAPT | 52 | 3.68 (1, 13.52) | 0.05& | 31 | 0.0004 (−0.3, 0.3) | 1 |
| YEO | 1.05 (1.02, 1.08) | 0.003 | 0.002 (−0.0047, 0.008) | 0.62 | ||
| Baseline score | - | - | −0.26 (−0.33, −0.19) | <.0001 | ||
| C9orf72*YEO | 0.98 (0.93, 1.04) | 0.51 | 0.005 (−0.0109, 0.02) | 0.54 | ||
| GRN*YEO | 0.97 (0.92, 1.02) | 0.26 | 0.006 (−0.0057, 0.02) | 0.31 | ||
| MAPT*YEO | 0.97 (0.9, 1.04) | 0.41 | −0.006 (−0.0247, 0.01) | 0.49 | ||
Statistics are from the Solution for Fixed Effects Table
#
Baseline data was modeled with a negative binomial distribution with a log link function. Estimates and confidence intervals of fixed effects are exponentiated (base e) and indicate the incident rates. Estimates below 1 indicate an inverse relationship between the variable and outcome
&
Overall effect of genetic group was not statistically significant at p<0.05 (based on Type III Tests of Fixed Effects)
The model could not be run on some subscales after outliers were removed due to low symptom endorsement. At baseline, for the self-care sub-scale, 3 participants (3 preclinical) had scores above zero after outliers were removed. At baseline, for the beliefs sub-scale, 4 participants (1 preclinical, 2 non-carrier) had scores above zero after outliers were removed. For the change score, for the self-care scale, 1 non-carrier endorsed a change in symptom.
For the main effect of genetic group and Gene*EYO interaction= reference group are the non-carriers
YEO= Years from estimated onset; CI=confidence interval