Background
Methods
Participants
Measures
Rett Syndrome Behavior Questionnaire (RSBQ)
Anxiety Depression and Mood Scale (ADAMS)
Aberrant Behavior Checklist-Community (ABC-C)
Clinical Severity Scale (CSS)
Vineland Adaptive Behavior Scales-II (Vineland-II)
Child Health Questionnaire (CHQ)
Statistical analyses
Results
General behavior profile in RTT
CSS | Number | Min. | Max. | Skewness | SE | Kurtosis | SE | 25th | 50th | 75th | 85th | 95th | Items | α |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | 51 | 5 | 32 | −0.1 | 0.3 | −0.3 | 0.7 | 16.00 | 20.00 | 25.00 | 27.00 | 30.40 | 13 | – |
RSBQ | ||||||||||||||
General Mood | 74 | 0 | 16 | 0.5 | 0.3 | −0.6 | 0.6 | 4.00 | 6.00 | 9.50 | 13.00 | 15.30 | 8 | 0.88 |
Body Rocking | 74 | 0 | 14 | 0.6 | 0.3 | 0.1 | 0.6 | 4.00 | 6.00 | 8.00 | 9.00 | 12.30 | 7 | 0.67 |
Hand Behaviors | 74 | 3 | 12 | −0.5 | 0.3 | −0.5 | 0.6 | 6.00 | 8.00 | 10.00 | 10.00 | 12.00 | 6 | 0.63 |
Fear/Anxiety
|
74
|
0
|
8
|
−0.1
|
0.3
|
−0.7
|
0.6
|
3.00
|
5.00
|
6.00
|
7.00
|
8.00
|
4
|
0.73
|
Breathing Problems | 72 | 0 | 10 | 0.3 | 0.3 | −0.9 | 0.6 | 2.00 | 4.50 | 7.00 | 8.00 | 10.00 | 5 | 0.76 |
Repetitive Face Movements | 74 | 0 | 8 | 0.0 | 0.3 | −0.8 | 0.6 | 2.00 | 4.00 | 5.00 | 6.00 | 7.00 | 4 | 0.53 |
Night-time Behaviors | 72 | 0 | 6 | 0.9 | 0.3 | −0.1 | 0.6 | 0.00 | 1.00 | 3.00 | 4.00 | 5.30 | 3 | 0.75 |
Walking/Standing | 73 | 0 | 4 | −0.1 | 0.3 | −1.3 | 0.6 | 1.00 | 2.00 | 3.00 | 4.00 | 4.00 | 2 | 0.62 |
Total | 45 | 0.88 | ||||||||||||
ADAMS | ||||||||||||||
Manic | 74 | 0 | 14 | 0.3 | 0.3 | −0.8 | 0.6 | 3.00 | 6.00 | 9.00 | 10.90 | 13.00 | 5 | 0.77 |
Depressed | 74 | 0 | 19 | 1.3 | 0.3 | 2.6 | 0.6 | 1.00 | 4.00 | 6.00 | 8.00 | 11.40 | 7 | 0.76 |
Social Avoidance
|
74
|
0
|
16
|
1.1
|
0.3
|
1.3
|
0.6
|
2.50
|
4.00
|
7.00
|
8.00
|
15.30
|
7
|
0.80
|
General Anxiety
|
74
|
0
|
20
|
1.0
|
0.3
|
0.4
|
0.6
|
3.00
|
5.00
|
9.00
|
12.20
|
18.40
|
7
|
0.91
|
Obsessive Behavior | 73 | 0 | 7 | 0.7 | 0.3 | −0.4 | 0.6 | 1.00 | 2.00 | 4.75 | 6.00 | 7.35 | 3 | 0.60 |
Total | 28 | 0.92 | ||||||||||||
ABC-C | ||||||||||||||
Irritability | 47 | 0 | 29 | 1.3 | 0.4 | 1.1 | 0.7 | 3.75 | 7.00 | 12.00 | 17.95 | 27.60 | 15 | 0.89 |
Lethargy/Social Withdrawal
|
47
|
0
|
22
|
0.7
|
0.4
|
−0.4
|
0.7
|
4.00
|
8.00
|
13.25
|
16.00
|
21.30
|
16
|
0.78
|
Stereotypy | 47 | 1 | 18 | −0.2 | 0.4 | 0.9 | 0.7 | 9.00 | 11.00 | 13.25 | 14.95 | 17.30 | 7 | 0.68 |
Hyperactivity | 47 | 0 | 36 | 1.4 | 0.4 | 1.6 | 0.7 | 5.00 | 8.00 | 14.50 | 22.00 | 34.60 | 16 | 0.93 |
Inappropriate Speech | 47 | 0 | 10 | 4.4 | 0.4 | 23.0 | 0.7 | 0.00 | 0.00 | 0.00 | 1.95 | 3.00 | 4 | 0.86 |
Social Avoidance
|
47
|
0
|
10
|
1.6
|
0.4
|
3.0
|
0.7
|
0.00
|
0.50
|
3.25
|
4.00
|
5.65
|
4
|
0.86
|
Total | 58 | 0.94 |
Internal structure of anxiety scales in RTT
Anxiety scales, age, and clinical severity in RTT
Relationship with age
Ages (years) | Number |
---|---|
2–4a
| 26 |
4–6 | 20 |
6–8 | 14 |
8–11 | 15 |
Total | 75 |
Age | CSS | ||||||
---|---|---|---|---|---|---|---|
N
| Spearman’s rho |
p value |
aMann-Whitney U
|
aAsymp. sig (two-tailed) | Spearman’s rho |
p value | |
CSS | 51 | 0.101 | 0.241 | 249.500 | 0.348 | – | – |
RSBQ | |||||||
Fear/Anxiety | 74 | 0.182 | 0.060 | 575.500 | 0.248 | −0.236 |
0.048
|
ADAMS | |||||||
Social Avoidance | 74 | −0.079 | 0.251 | 435.000 | 0.391 | −0.220 | 0.060 |
General Anxiety | 73 | 0.120 | 0.156 | 563.000 | 0.446 | −0.331* |
0.009
|
ABC-C | |||||||
Lethargy/Social Withdrawal | 47 | 0.010 | 0.474 | 218.500 | 0.623 | −0.138 | 0.177 |
Social Avoidance | 47 | 0.006 | 0.484 | 223.000 | 0.676 | −0.150 | 0.157 |
Relationship with clinical severity
Mild (n = 26) | Severe (n = 46) | Mutation differences | |||||
---|---|---|---|---|---|---|---|
N
| Median | SD | Median | SD |
aMann-Whitney U
|
aAsymp. sig (two-tailed) | |
CSS | 51 | 18.00 | 5.47 | 22.00 | 5.54 | 175.00* |
0.009
|
RSBQ | |||||||
Fear/anxiety | 72 | 5.00 | 2.11 | 4.00 | 2.01 | 504.50 | 0.267 |
ADAMS | |||||||
Social avoidance | 72 | 4.00 | 3.29 | 4.00 | 3.69 | 515.50 | 0.330 |
General anxiety | 71 | 7.00 | 4.32 | 5.00 | 4.80 | 377.00 |
0.013
|
ABC-C | |||||||
Lethargy/social withdrawal | 47 | 9.50 | 6.46 | 6.50 | 4.47 | 208.00 | 0.207 |
Social avoidance | 47 | 1.50 | 2.79 | 0.00 | 1.34 | 208.50 | 0.179 |
Reliability of anxiety scales in RTT
Internal consistency
Test-retest reliability
Number | Retest | 95 % CI | Intra-rater | 95 % CI | |
---|---|---|---|---|---|
RSBQ | |||||
General Mood | 34 | 0.86 | 0.72–0.93 | 0.75 | 0.56–0.87 |
Body Rocking and Expressionless Face | 34 | 0.90 | 0.80–0.95 | 0.82 | 0.67–0.90 |
Hand Behaviors | 34 | 0.83 | 0.67–0.92 | 0.71 | 0.49–84 |
Fear/Anxiety
|
34
|
0.72
|
0.45–0.86
|
0.57
|
0.29–0.76
|
Breathing Problems | 34 | 0.91 | 0.82–0.95 | 0.83 | 0.69–0.91 |
Repetitive Face Movements | 34 | 0.78 | 0.56–0.88 | 0.64 | 0.38–0.79 |
Night-time Behaviors | 34 | 0.94 | 0.88–97 | 0.89 | 0.79–0.94 |
Walking/Standing | 34 | 0.74 | 0.49–0.87 | 0.59 | 0.32–0.77 |
Mean | 0.84 | – | 0.73 | – | |
ADAMS | |||||
Manic/Hyperactive Behavior | 34 | 0.77 | 0.54–0.88 | 0.62 | 0.37–0.79 |
Depressed Mood | 33 | 0.72 | 0.44–0.86 | 0.57 | 0.29–0.76 |
Social Avoidance
|
34
|
0.80
|
0.59–0.89
|
0.66
|
0.42–81
|
General Anxiety
|
33
|
0.81
|
0.61–0.91
|
0.68
|
0.45–0.83
|
Obsessive/Compulsive Behavior | 33 | 0.80 | 0.59–0.89 | 0.66 | 0.42–0.82 |
Mean | 0.78 | – | 0.64 | – |
Intra-rater reliability
Convergent and discriminant validity of anxiety scales in RTT
RSBQ General Mood | RSBQ Fear/Anxiety | ADAMS Social Avoidance | ADAMS General Anxiety | ABC Irritability | ABC Lethargy/Social Withdrawal | ABC Social Avoidance | |
---|---|---|---|---|---|---|---|
RSBQ General Mood | 1.000 | 0.430b
| 0.362b
| 0.347b
| 0.665b
| 0.434b
| 0.356b
|
N
| 74 | 74 | 74 | 73 | 47 | 47 | 47 |
RSBQ Fear/Anxiety | 0.296b
| 0.626b
| 0.331a
| 0.160 | 0.218 | ||
N
| 74 | 73 | 47 | 47 | 47 | ||
ADAMS Social Avoidance | 0.411b
| 0.277a
| 0.588b
| 0.613b
| |||
N
| 73 | 47 | 47 | 47 | |||
ADAMS General Anxiety | 0.348b
| 0.251a
| 0.187 | ||||
N
| 46 | 46 | 46 | ||||
ABC Irritability | 0.385b
| 0.240 | |||||
N
| 47 | 47 | |||||
ABC Lethargy/Social Withdrawal | 0.690b
| ||||||
N
| 47 | ||||||
ABC Social Avoidance | 1.000 | ||||||
N
| 47 |
Functional correlates of anxiety scales in RTT
Anxiety and adaptive behavior
RSBQ General Mood | RSBQ Fear/Anxiety | ADAMS Social Avoidance | ADAMS General Anxiety | ABC Irritability | ABC Lethargy/Social Withdrawal | ABC Social Avoidance | ||
---|---|---|---|---|---|---|---|---|
Communication | Corr. coeff. | −0.075 | 0.030 | −0.242 | 0.087 | −0.017 | −0.133 | −0.151 |
Sig. | 0.637 | 0.853 | 0.122 | 0.585 | 0.916 | 0.401 | 0.340 | |
N
| 42 | 42 | 42 | 42 | 42 | 42 | 42 | |
Daily Living Skills | Corr. coeff. | 0.011 | 0.086 | −0.158 | −0.020 | −0.124 | −0.255 | −0.223 |
Sig. | 0.944 | 0.589 | 0.319 | 0.897 | 0.436 | 0.104 | 0.156 | |
N
| 42 | 42 | 42 | 42 | 42 | 42 | 42 | |
Socialization | Corr. coeff. | −0.205 | −0.182 | −0.107 | −0.141 | −0.186 | −0.189 | −0.207 |
Sig. | 0.193 | 0.248 | 0.499 | 0.374 | 0.239 | 0.231 | 0.189 | |
N
| 42 | 42 | 42 | 42 | 42 | 42 | 42 | |
Motor Skills | Corr. coeff. | 0.344* | 0.218 | 0.074 | 0.312* | 0.385** | 0.087 | 0.140 |
Sig. | 0.026 | 0.166 | 0.642 | 0.044 | 0.012 | 0.582 | 0.376 | |
N
| 42 | 42 | 42 | 42 | 42 | 42 | 42 |
Anxiety and quality of life
RSBQ General Mood | RSBQ Fear/Anxiety | ADAMS Social Avoidance | ADAMS General Anxiety | ABC Irritability | ABC Lethargy/Social Withdrawal | ABC Social Avoidance | ||
---|---|---|---|---|---|---|---|---|
CHQ Physical Summary Measure | Corr. coeff. | −0.165 | 0.055 | −0.031 | 0.068 | −0.145 | −0.015 | 0.213 |
Sig. | 0.328 | 0.744 | 0.856 | 0.688 | 0.422 | 0.936 | 0.234 | |
N
| 37 | 37 | 37 | 37 | 33 | 33 | 33 | |
CHQ Psychosocial Summary Measure | Corr. coeff. | −0.310 | −0.193 | −0.338* | −0.298 | −0.509** | −0.090 | −0.060 |
Sig. | 0.062 | 0.252 | 0.041 | 0.073 | 0.002 | 0.620 | 0.739 | |
N
| 37 | 37 | 37 | 37 | 33 | 33 | 33 |