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Figure Captions
Figure 1. Box-and-whisker plot of Gait Variable Scores in patient and control groups
Lower and upper edges of each box exhibit 25 and 75 percentile values of Gait Variable
Scores (GVSs), respectively. Vertical lines represent range of GVS. Horizontal lines in
boxes and cross marks indicate median and mean values of GVSs, respectively.
Figure 2. Mean waveforms of nine major kinematics
A. Mean waveforms of patients with Rett syndrome. B. Mean waveforms of healthy
controls. Unit of vertical scale is degree. Red and green lines show mean of right and
left foot in both the groups, respectively. Blue lines show ±1 standard deviation from
mean values. With reference to vertical line near the center, left side mean stance phase,
and right-side mean swing phase. Patients with RTT exhibited insufficient extension of
the hip joint in terminal stance, decreased dynamic range of motion in the knee joint,
excessive plantarflexion in the ankle joint, excessive external rotation in the foot
progression angle, and excessive rotation in the pelvis in addition to a larger variation in
many kinematics than the healthy controls.
Ant/Post:
anterior/posterior,
Flex/Ext:
flexion/extension,
Plan/Dors:
plantarflexion/dorsiflexion, Int/Ext: internal rotation/external rotation, Add/Abd:
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adduction/abduction
Figure_1
Figure 2
Tables
Table 1. Clinical characteristics of patients with Rett syndrome at the time of gait analysis
Patient
10
11
MECP2 gene
Missense
Deletion of
Nonsense
Missense
Missense
Nonsense
Missense
Deletion of
Missense
Missense
Missense
Arg133Cys
exon 3-4
Arg270Ter
Thr158Met
Arg306Cys
Arg294Ter
Arg133Cys
exon 3-4
Arg306Cys
Pro152Arg
Arg133Cys
5y
6y
7y
7y
8y
9y
9y
13 y
15 y
18 y
18 y
1 y 2 mo
1 y 4 mo
1 y 10 mo
2 y 0 mo
1 y 3 mo
2 y 0 mo
1 y 3 mo
1 y 2 mo
1 y 6 mo
1 y 2 mo
1 y 8 mo
Yearly
Weekly
Yearly
Monthly
None
Yearly
None
Yearly
Yearly
Monthly
Monthly
VPA
LEV
VPA, LEV
None
LEV
None
ZNS
CBZ
VPA, LTG
Words
Babbling
Babbling
Babbling
Words
Babbling
Words
Babbling
Short phrases
Babbling
Words
Mild atrophy
Normal
Mild atrophy
Not tested
Normal
Normal
Normal
Normal
Normal
Mild atrophy
Normal
mutation
Age
Age at which
independent
walking started
Frequency of
epileptic
seizures
Antiseizure
medication
Speech ability
Last brain MRI
findings
VPA, LEV,
LCM
VPA, LEV,
PB
Physical
examination
Hypertonia
Hypertonia
Hypotonia,
Hypotonia,
Hypotonia,
generalized
generalized
generalized
Ataxia
(−)
(−)
Dystonia
(−)
(−)
(−)
(−)
(−)
Scoliosis
Mild
Mild
(−)
(−)
Mild
(+)
(+)
(−)
(−)
(+)
(+)
(+)
(+)
Muscle tone
Pes
planovalgus
Appendicular,
axial, gait
and rigidity,
Normal
generalized
Appendicular,
axial, gait
and rigidity,
Normal
generalized
(−)
Appendicular,
Hypertonia
Hypertonia,
Rigidity,
Rigidity,
generalized
generalized
generalized
Appendicular,
Appendicular,
Appendicular,
axial, gait
axial, gait
axial, gait
and rigidity,
generalized
(−)
(−)
(−)
(−)
(−)
(−)
(−)
Mild
(−)
(−)
Mild
(−)
Moderate
(−)
(−)
(−)
(+)
(−)
(+)
(+)
(−)
(+)
(+)
(+)
(+)
(+)
(+)
axial, gait
Four
extremities
Restriction of
dorsiflexion of
ankle
MECP2, methyl-CpG-binding protein 2; Arg, arginine; Cys, cysteine; Ter, termination codon; Thr, threonine; Met, methionine; Pro, proline; y, year; mo, month; VPA, valproic acid; LEV,
levetiracetam; LCM, lacosamide; ZNS, zonisamide; PB, phenobarbital; CBZ, carbamazepine; LTG, lamotrigine; MRI, magnetic resonance imaging
Table 2. Spatiotemporal gait parameters in patients with Rett syndrome and female controls
Patients with Rett
Healthy controls
syndrome (n=11)
(n=33)
Age, years a
9 [5–18]
9 [7–14]
0.789
Height, cm b
1.22 (0.14)
1.33 (0.11)
0.011
Weight, kg a
18.1 [14.6–40.9]
26.2 [19.8–53.9]
0.031
0.62 (0.087)
0.65 (0.062)
0.147
0.66 (0.22)
1.13 (0.14)
<0.001
0.56 (0.17)
0.81 [0.70-0.97]
<0.001
114 (20)
126 (9.7)
0.014
0.20 (0.063)
0.10 (0.024)
<0.001
Length of lower extremities,
cm b
Walking speed, m/second b
Step length/length of lower
extremities
Cadence, steps/minute b
Step width, m b
P value
Coefficients of variation of
the step length
0.18 [0.08–0.52]
0.05 [0.01–0.15]
<0.001
Data were analyzed using the Mann–Whitney U test; results are presented as median [range].
Data were analyzed using the two-sample t-test; results are presented as mean (standard deviation).
Table 3. Comprehensive indices of gait kinematics in patients with Rett syndrome and female controls
Patients with Rett
Healthy controls
syndrome (n=11)
(n=33)
72.6 (7.5)
95.2 (8.8)
<0.001*
10.9 [7.7–15.8]
5.9 [4.2–9.7]
<0.001
Pelvic tilt
3.2 [1.1–10.3]
3.0 [0.5–13.1]
<0.001
Pelvic obliquity
3.4 [1.3–4.7]
1.2 [0.4–3.3]
<0.001
Pelvic rotation
5.6 [1.5–11.6]
2.2 [1.0–4.1]
<0.001
Hip flexion-extension
9.7 [5.7–16.9]
4.8 [1.3–15.8]
<0.001
Hip abduction-adduction
5.8 [3.3–10.2]
3.3 [2.1–4.6]
<0.001
Hip rotation
9.0 [2.8–22.6]
8.3 [2.5–15.8]
0.915
Knee flexion-extension
11.0 [6.8–14.8]
4.7 [2.3–14.9]
<0.001
Gait Deviation Index, points
Gait Profile Score, °
P value
Gait Variable Scores, °
Ankle dorsiflexionplantarflexion
Foot progression angle
8.6 [6.3–31.0]
3.8 [2.1–6.1]
<0.001
13.8 [5.5–28.9]
7.0 [3.4–17.5]
0.013
* Data were analyzed using the two-sample t-test; the results are presented as mean (standard deviation).
All other variables were analyzed using the Mann–Whitney U test; results are presented as median [range].
The gait profile score was composed of nine gait variable scores, as shown in this table.
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