Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

Table 2

Clinical features of CCFDN patients.

Patient	Age at; evaluation (years)	Age of starting; to walk (years)	Age of starting; to talk (years)	Functional Disability; Scale (FDS)	Klockgether; ataxia score
1	4	1,8	2,5	4	2
2	8	2,5	1,5	1	11
3	8	2	3	2	0
4	9	3	2	4	10
5	12	2	2	2	0
6	13	Independent ambulation, never achieved	3	7	0
7	13	4	4	2	5
8	16	2,5	1,3	5	0
9	16	2	2	3	8
10	17	2	2	2	1
11	18	4	4	3	5
12	19	5	4	7	7
13	24	5	12	3	2
14	26	1,2	2	3	3
15	30	2	2,5	3	4
16	33	1,5	2,8	3	4
17	34	2	2	4	5
18	37	3	3	3	8
19	42	2	2	3	5
20	45	2,5	2,5	2	0
21	46	6	3	4	5
22	47	2	2,5	3	1

Functional Disability Scale [12], ranging from 0 to 8 (0: normal, 8: bedridden).
Klockgether ataxia score [13], for measuring dysarthria, ataxia of walk, stance, upper and lower extremities, dysdiadochokinesis, and intention tremor on a scale from 0 to 5 for each item (0: best, 5: worst). The whole evaluation ranges from 0 to 35.