Table 1 Neuropsychological data in ARX patients and age-matched Down syndrome patients

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 form³ (n = 16/16)

Number of patients using the 50^th 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 scale⁴ (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 scale⁵ (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*