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Table 1 Population characteristics at the first examination

From: Cognitive impairment profile in adult patients with Niemann pick type C disease

 

Mean

SD

Median

IQR

Age (years)

34.9

12.6

30

24.5–40.5

Gender (M/F)

8/13

   

Education (years)

9

3.2

11

5–12

Age of onset (years)

21.6

15.4

16

13.3–25

Disease duration (years)

14.4

13.2

9

4–19

Walking score (/5)

1.4

0.8

1

1–2

Manipulation score (/4)

1.6

0.6

2

1–2

Dysarthria score (/5)

1.8

0.7

2

2–2

Deglutition score (/4)

1.5

1.1

2

0–2

History of psychosis Y/N

7/14

   

Learning disorder Y/N

3/18

   

Time between the onset of disease and the initiation of miglustat (years)

7.7

5

7

3.7–17.7

Duration of miglustat (months)a

18.8

15.5

18

3–32.3

  1. A total of 21 patients were included in the study. Disease duration is the time between the onset of the disease and the first neuropsychological examination. Walking, manipulation, dysarthria and deglutition scores are determined at diagnosis. All patients were treated by miglustat but three patients stopped the treatment after 5, 6 and 13 months of treatment respectively
  2. aDuration of therapy prior to first neuropsychological assessment
  3. IQR interquartile range, M/F male/female, SD standard deviation, W women, Y/N yes/no.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172