Table 2.
Cognitive assessment test scores for MAP1B LoF carriers compared with controls
| Cognitive test | n (MAP1B—Carriers/Controls) | Mean (SD) (MAP1B—Carriers/Controls) | β (95% CI) | P |
|---|---|---|---|---|
| LMI&II | 9/2230 | 65.9 (22.5)/68.6 (17.3) | 0.3 (−0.5, 1.1) | 0.45 |
| LF | 9/2221 | 16 (8.5)/29.3 (9.5) | 1.2 (0.4, 2.1) | 0.0037 |
| CF | 9/2224 | 17.2 (5.6)/22.0 (5.5) | 0.8 (−0.01, 1.6) | 0.053 |
| Stroop | 8/2218 | 48.8 (31.5)/26.6 (12.3) | 1.0 (0.2, 1.9) | 0.018 |
| TMT | 8/2207 | 82.8 (75.5)/44.8 (26.2) | 0.8 (−0.1, 1.6) | 0.065 |
| Pers. err | 9/2175 | 24.1 (15.2)/14.7 (12.3) | 0.9 (0.1, 1.8) | 0.031 |
| SWM | 9/2208 | 6.2 (5.1)/6.3 (7.2) | 0.9 (0.1, 1.8) | 0.026 |
| RVIP | 7/1964 | 0.9 (0.05)/0.9 (0.1) | 0.9 (0.1, 1.8) | 0.029 |
| TMT-A | 8/2218 | 42.2 (15.8)/29.6 (12.8) | 1.2 (0.4, 2.1) | 0.0046 |
| Str-bl | 8/2223 | 22.9 (4.1)/21.3 (4.4) | 0.2 (−0.7, 1.0) | 0.72 |
| ERT-Cor | 6/788 | 0.5 (0.2)/0.6 (0.1) | 1.5 (0.5, 2.5) | 0.0042 |
| ERT-Lat | 6/788 | 1912.3 (559.9)/1994.6 (680.2) | 0.5 (−0.5, 1.5) | 0.35 |
| GAF | 9/2153 | 80.7 (4.6)/80.9 (10.0) | 0.2 (−0.7, 1.0) | 0.69 |
The cognitive assessment values are unadjusted means and SD. For analyses the cognitive test scores were inverse normal transformed and adjusted for sex, age and age2. Cognitive test scores were then shifted and scaled, resulting in controls having a mean of 0 and a standard deviation of 1. The cognitive test scores were arranged such that higher scores indicate greater impairment, in MAP1B LoF carriers. The effects (β in SD) and P-values were calculated by comparing MAP1B LoF carriers (FAM1-B1,-C1,-C2,-D1,-D2,-D3, FAM2-H1,-J2, FAM3-L1) with controls using a generalised least-squares regression with a variance–covariance matrix based on the kinship coefficient of each pair of individuals. See Methods for a description of the cognitive tests
LMI&II: logical memory subtest from the Wechsler Memory Scale III (WMS-III), LF: letter fluency from the controlled oral word association test (COWAT), CF: category fluency from the category naming test, Stroop: name colour minus colour pad task, TMT: trail-making test (refers to part B minus part A), Pers. err.: perseverative error from the Wisconsin card-sorting test (WCST), SWM: spatial working memory, RVIP: rapid visual information processing, TMT-A: trail-making test part A, Str-bl: stroop black letter, ERT-Cor: emotion recognition task-percentage correct, ERT-Lat: emotion recognition task-mean response latency, SD: standard deviation, GAF: global assessment of functioning scale