Table 1: Patients’ characteristics. Comparison of early onset-group to late onset-group, p-values Mann-Whitney-test.
|
|
Normal mo |
HC (SD) |
Epilepsy yrs:mo |
AED |
CSF ACTH |
CSF Glutam |
CSF IGF-1 |
CSF Acetyl |
CSF NGF |
Gene |
Gait mo |
SPECT |
|||
|
yrs:mo |
Front |
Temp |
Par |
||||||||||||
|
Early onset 6-8 months, N=6 |
|||||||||||||||
|
#1 / 1.7 yrs |
6 |
-2 |
No |
No |
43 |
265 |
0.53 |
97.7 |
0.1 |
R255X |
No |
|
R++/ L+++ |
R+ |
|
|
#2 / 4.2 yrs. |
6 |
-3.5 |
No |
No |
ND |
407 |
0.56 |
ND |
6.6 |
R270X |
No |
4:2 |
R+++/ L++ |
T++ |
R++/ L+ |
|
#3 / 4.2yrs |
6 |
-2.5 |
1:8 |
VPA |
25 |
213 |
0.16 |
72.5 |
0.16 |
G269X |
No |
ND |
|
|
|
|
#4 / 4.2 yrs |
6 |
ND |
1:6 |
VPA |
|
|
|
ND |
|
|
No |
4:2 |
R+++/L++ |
TR+++ |
|
|
#5 / 17.4 yrs |
8 |
-3.0 |
1:7 |
VPA |
36 |
252 |
0.44 |
56.0 |
0.1 |
ND |
No |
17:5 |
R+/L++ |
|
L+ |
|
#6 /11.4 yrs |
5 |
-3.0 |
4:4 |
VPA |
34 |
436 |
0.61 |
55.1 |
0.1 |
R302A |
20 / later lost |
11:6 |
Hypometabolism |
||
|
Late onset 10-24 months, N=9 |
|||||||||||||||
|
#7 / 16.5 yrs |
12 |
-0.8 |
2:6 |
CBZ/VPA |
26 |
332 |
0.29 |
ND |
0.4 |
R306C |
18 |
ND |
|
|
|
|
#8 / 11.3yrs |
10 |
-1.5 |
4:0 |
CBZ |
ND |
ND |
0.74 |
66.2 |
0.1 |
R306C |
21 |
11:4 |
Normal |
||
|
#9 / 2.9 yrs |
15 |
-2 |
No |
No |
31 |
521 |
0.47 |
60.3 |
0.1 |
R106W |
14 |
3:2 |
|
R+ |
|
|
#10 / 3yrs.11mo |
15 |
-0.3 |
1:6 |
VPA |
40 |
539 |
0.48 |
53.9 |
ND |
R306C |
20 |
3:5 |
R++/L++ |
|
L+ |
|
#11 /6.5 yrs. |
23 |
-1.5 |
4:0 |
VPA |
ND |
361 |
ND |
ND |
6.7 |
R306C |
20 |
ND |
|
|
|
|
#12 / 9.8 yrs |
18 |
-1.7 |
3:7 |
CBZ |
23 |
311 |
0.48 |
61.4 |
3.0 |
R306C |
16 |
9:10 |
R+ |
|
R+ |
|
#13 / 2.3 yrs |
72 |
-1.3 |
No |
No |
ND |
ND |
0.16 |
135.8 |
2.7 |
R294X |
12 |
2:7 |
R+ |
|
|
|
#14 / 13.4 yrs |
18 |
-0.8 |
2:0 |
CBZ / VPA |
ND |
270 |
0.79 |
127.4 |
0.1 |
R294X |
16 |
13:5 |
|
R+/L+ |
|
|
#15 / 2 yrs |
ND |
0 |
No |
No |
29 |
|
|
66.3 |
|
T158M |
20 |
ND |
|
|
|
|
P-value |
|||||||||||||||
|
early vs. late |
|
0.002 |
|
|
0.41 |
0.25 |
1.0 |
0.51 |
0.53 |
|
|
|
|
|
|
Abbreviations: mo=months, yrs=years, HC: head circumference, AED: antiepileptic drugs, ACTH: adrenocorticotrophic hormone, CSF: cerebrospinal fluid, IGF-1: insulin-like growth factor-1, Glutam: glutamate, Acetyl: acetylcholine esterase; NGF: beta nerve growth factor, II-IV: Stages of Rett syndrome; ND: :no data, Front: frontal lobe; Temp: temporal lobe; Par: parietal lobe; R:right; L:left, + = slight; ++ = moderate, +++ = severe; N: normal.