Table 1.
Neuropsychological data in ARX patients and age-matched Down syndrome patients
| Function evaluated | Test | ARX patients | DS patients | Group comparison |
|---|---|---|---|---|
|
Cognitive evaluation
| ||||
| |
Wechsler scale (n = 16/16)
1
|
|
|
|
| Intellectual quotient |
Verbal IQ (VIQ)2 |
49 [45 – 61] |
48 [45 – 60] |
p = 0.33 |
| Performance IQ (PIQ)2 |
52 [45 – 60] |
48 [41 – 56] |
p = 0.28 |
|
| Total IQ (TIQ) |
48 [40 – 70] |
45 [40 – 54] |
p = 0.28 |
|
|
Raven’s coloured progressive matrices (n = 16/16) | ||||
| Non-verbal reasoning |
Mental age |
6.9 years [4.2-11] |
7.4 years [5.7-9.5] |
p = 0.28 |
|
Peabody Picture Vocabulary Test Revised (PPVT-R) (n = 16/16) | ||||
| Receptive language |
Vocabulary age |
8.1 years |
8.2 years |
p = 0.96 |
|
Adaptive and behavioural assessment
| ||||
|
Vineland adaptive behavioral scale (n = 21/21)
1
| ||||
| Adaptive behavior |
Global score |
43 [20–74] |
53 [33–72] |
p = 0.02* |
| Communication score |
32 [20–64] |
39 [21–65] |
p = 0.07 |
|
| Daily-living skills |
46 [20–108] |
49 [20–82] |
p = 0.38 |
|
| Socialization skills |
49 [20–72] |
70 [51–101] |
p = 0.00002**** |
|
|
Nisonger child behavior rating form
3
(n = 16/16) | ||||
| Number of patients using the 50th percentile threshold | ||||
| Behavior disorder |
Conduct disorder |
5 |
0 |
p = 0.02* |
| Anxiety |
7 |
1 |
p = 0.018* |
|
| Hyperactivity |
5 |
0 |
p = 0.02* |
|
| Automutilation/stereotyped behavior |
6 |
2 |
NS |
|
| Self-isolation/rituals |
5 |
0 |
p = 0.02* |
|
| Sensitivity/susceptibility |
9 |
1 |
p = 0.003*** |
|
|
Motor assessment
|
|
|
|
|
|
Edinburgh handedness test (n = 27/27) | ||||
| Handedness |
Right- /Left-handed |
19/7 |
26/1 |
p = 0.05* |
|
Videotaped protocol (n = 21/21) | ||||
| Praxis skills |
Orolingual praxis score |
1.6 |
2.9 |
p = 0.00005**** |
| Gestural praxis score |
2 |
3.1 |
p = 0.0003**** |
|
|
De Renzi scale
4
(n = 12/12) | ||||
| Imitation of gestures |
Global score |
38 [14–56] |
61 [54–70] |
p = 0.00004**** |
| Number of patients scoring above the minimum normal score (>62) |
0 |
5 |
p = 0.018* |
|
| Number of patients scoring in the pathological range for apraxia (<53) |
9 |
0 |
p = 0.0002*** |
|
| Fingers score |
13 [2–24] |
29 [22–35] |
p = 0.00006**** |
|
| Limb score |
25 [22–35] |
32 [28–35] |
p = 0.015* |
|
|
Lincoln-Oseretsky motor development scale
5
(n = 8/8) | ||||
| Psychomotor development | Global psychomotor developmental age |
8.1 years [6–12] |
7.4 years [6–9] |
p = 0.45 |
| Manual precision |
49 [25–75] |
60 [38–75] |
p = 0.18 |
|
| Global coordination |
71 [29–100] |
43 [14–71] |
p = 0.028* |
|
| Alternative movements |
39 [0–100] |
53 [0–100] |
p = 0.42 |
|
| Speed of wrist/fingers movement |
56 [29–100] |
53 [29–86] |
p = 0.83 |
|
| Balance |
50 [25–75] |
9 [0–50] |
p = 0.003*** |
|
| Manual coordination | 58 [0–100] | 88 [67–100] | p = 0.05* | |
[Values] indicates the extreme values (minimum and maximum) obtained for each test.
For each scale, the normality of the data distribution was checked using the Shapiro-Wilk normality test. Then either an ANOVA or a non-parametric Mann and Whitney test was applied to compare differences across groups. The Fisher’s exact test was used to compare the number of left-handed patients and the number of patients with behavior disorder in ARX and DS groups.
*means <0.05, ***means <0.005 and ****means <0.001.
1 Six out of 27 patients were excluded for the Vineland scale (3 younger than 5 y; 3 with severe epilepsy). Five others were excluded for the cognitive and behavioural assessment (3 Partington with severe dystonia; 2 refusals).
2 Mean VIQ and PIQ were computed for patients who had WISC-III, WAIS-III, whereas only TIQ was computed for those who had a WISC-IV scale.