Analysis of the Phenotypes in the Rett Networked Database
Table 3
Main clinical characteristics in patients positive for a mutation in MECP2, CDKL5, and FOXG1. Clinical characteristics are listed in descending order of percentage of patients harboring a mutation in MECP2.
Clinical sign
MECP2 ()
CDKL5 ()
FOXG1 ()
value MECP2 vs. CDKL5
value MECP2 vs. FOXG1
value CDKL5 vs. FOXG1
+ (%)
+ (%)
+ (%)
A period of regression
743
715 (96.2)
16
12 (75.0)
25
13 (52.0)
<0.0001
0.140
<0.0001
Normal head circumference at birth
769
570 (74.1)
32
30 (93.8)
17
14 (82.4)
0.012
0.447
0.210
Deficient sphincter control
736
651 (88.5)
25
24 (96.0)
23
22 (95.7)
0.241
0.283
0.952
Eye pointing
880
771 (87.6)
32
13 (40.6)
15
2 (13.3)
<0.0001
<0.0001
0.052
Feeding difficulties
813
693 (85.2)
38
37 (97.4)
15
13 (86.7)
0.0364
0.877
0.128
Presence of hand stereotypies
880
599 (68.1)
28
24 (85.7)
24
23 (95.8)
0.048
0.004
0.217
704
477 (67.8)
19
19 (100)
24
24 (100)
0.003
0.0008
1
Microcephaly or deceleration of head growth
771
419 (54.3)
27
12 (44.4)
26
26 (100)
0.310
<0.0001
<0.0001
Gait dyspraxia
821
365 (44.5)
27
20 (74.1)
21
2 (9.5)
0.002
0.001
<0.0001
No speech at examination
754
513 (68.0)
23
21 (91.3)
24
24 (100)
0.018
0.0009
0.140
Epilepsy before 5 years of age
548
345 (63.0)
32
31 (96.9)
16
14 (87.5)
0.0001
0.044
0.206
Scoliosis
853
444 (52.1)
24
2 (8.3)
22
6 (27.3)
<0.0001
0.022
0.091
Bruxism
829
515 (62.1)
32
14 (43.8)
17
11 (64.7)
0.036
0.828
0.163
Height below the 25th percentile
767
447 (58.3)
27
13 (48.1)
25
17 (68.0)
0.295
0.332
0.148
Cold extremities
160
81 (50.6)
3
1 (33.3)
22
10 (45.5)
0.553
0.649
0.692
Weight below the 25th percentile
771
419 (54.3)
24
10 (41.7)
25
17 (68.0)
0.220
0.177
0.064
Has never spoken
754
445 (59.0)
23
19 (82.6)
26
24 (92.3)
0.023
0.0007
0.301
Gastrointestinal disturbances
603
261 (43.3)
26
10 (38.5)
22
16 (72.7)
0.627
0.006
0.018
Breathing dysfunction
824
441 (53.5)
26
3 (11.5)
25
7 (28.0)
<0.0001
0.012
0.139
Troubled night time sleeping
926
431 (46.6)
32
14 (43.8)
18
11 (61.1)
0.756
0.220
0.239
Never learned to walk
821
230 (28.0)
27
20 (74.1)
23
21 (91.3)
<0.0001
<0.0001
0.114
Epilepsy not controlled by therapy
548
117 (21.4)
25
21 (84.0)
17
10 (58.8)
<0.0001
0.0003
0.069
Never learned to sit
664
51 (7.7)
26
6 (23.1)
23
18 (78.3)
0.005
<0.0001
0.0001
Epilepsy before 1 year of age
689
27 (3.9)
32
31 (96.9)
16
6 (37.5)
<0.0001
<0.0001
<0.0001
represents the number of cases for which the corresponding item is present in the patient file; + represents the number of cases positive for the clinical sign, and the percentage is provided in brackets; the value of significance is provided for comparison.
