Table 1 Demographic characteristics and standardized measures in patients with PMM2-CDG

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

  n Mean SD Range Reference values
Age at study time (years) 26 13.0 11.1 2–45 -
BARS totala 13 15.8 8.2 7–30 0–30
ADL
Walking 26 2.32 1.3 0–4 0–4b
Speech 26 2.2 1.3 0–4 0–4
Self-care 21 7.2 3.5 1–12 0–12
Totalb 26 15.3 8.5 3–32 0–36
NCRS
Mobility 23 1.9 1.1 0–3 0–3
Communication 23 1.6 0.8 0–3 0–3
Self-care 23 1.9 1 0–3 0–3
Totalc 23 24 10.4 10–47 Mild (0–14)
Moderate (15–25)
Severe (> 25)
  1. aBrief ataxia rating scale (BARS) total scores 0–30: normal to severe ataxia
  2. bActivities of daily living (ADL) assessed with appropriate regard for age (normal to severe functional disability). ADL total scores 0–36 ranked least to most affected
  3. ADL self-care (sum of personal hygiene, dressing, utensil use, e.g. for feeding)
  4. cNijmegen CDG rating scale (NCRS) (assessed with appropriate regard for age). For each item, there are four possible responses reflecting normal (0), mild (1), moderate (2) and severe (3) impairment. NCRS total scores indicate global disease burden (including sections I, II and III)