Table 2 ADL score differences between PMM2-CDG clinical subgroups

From: Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

Group n ADL mean (SD) 95%CI ADL mean difference (95%CI) p Value
Genotype*
Mild 12 9.8 (1.4) 6.8–12.7   < 0.001
Severe 14 22.3 (1.9) 17.8–26.7 12.5 (11.1–13.9)
Intellectual disability
Mild-moderate 14 9.8 (5.1) 7.1–12.5   < 0.001
Severe 12 22.8 (6.5) 19.1–26.5 13 (8.3–17.7)
Epilepsy
Absent 18 13.1 (1.7) 9.6–16.7   0.057
Present 6 21.8 (4.2) 11.1–32.6 8.7 (6.3–11.1)
Stroke-like episodes
Absent 16 15.7 (1.9) 11.6–19.7   0.729
Present 6 17.2 (4.7) 4.9–29.4 1.5 (-1.4–4.4)
Extra-pyramidal signs
Absent 11 13.5 (1.8) 9.6–17.5   0.171
Present 11 18.6 (3.1) 11.7–25.6 5.1 (2.8–7.3)
Neuropathy
Absent 8 8.1 (1.2) 5.1–11.1   < 0.001
Present 14 20.6 (1.9) 16.5–24.8 12.5 (10.9–14.1)
  1. ADL activities of daily living. *PMM2 mild/severe allelic variants
  2. ADL scores 0–36 ranked least to most affected