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Table 9 Summary of features associated with autism spectrum disorder (ASD) and other features of altered behaviour or mood found in patients with MDS reported in the literature; NR = not reported

From: A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

Feature

Males

n/N

Females

n/N

Total

n/N (%)

References

Symptoms of autism

    

Autism diagnosis

31/46

3/4

34/50 (68%)

[4, 5, 39, 42, 49, 75]

Unspecified, general autistic features

24/44

5/9

29/53 (55%)

[12, 14, 20, 23, 25, 29, 31, 34,35,36, 38, 43, 52,53,54, 67, 68, 85]

Anxiety

–

–

44/111 (40%)

[4, 5, 26, 29, 42, 55, 69, 74, 78, 84]

Compulsive behaviours

1/5

2/3

3/8 (38%)

[5]

Difficulty adjusting to change

8/14

2/3

10/17 (59%)

[4, 5]

Gaze avoidance/difficulty using eye gaze

40/54

4/7

44/61 (72%)

[4, 5, 20, 25, 34, 41, 52, 57, 63, 67, 75, 83]

Hyperacusis

NR

2/5

2/5 (40%)

[41, 43]

Impaired social interactions

34/41

4/5

38/46 (83%)

[4, 26, 36, 38, 55, 67, 73, 75, 83]

Repetitive behaviours

18/23

3/7

21/30 (70%)

[4, 5, 10, 32, 36, 55]

Stereotypical behaviours

140/251

18/34

158/285 (55%)

[4, 5, 10, 12, 14, 17, 23, 25, 27, 29,30,31,32,33,34, 36,37,38, 40, 42, 43, 49, 53,54,55, 57, 59, 61, 63, 64, 69,70,71, 73,74,75,76,77, 83, 86]

Other features of altered behaviour or mood

    

Aggression

NR

2/7

2/7 (29%)

[41, 74]

Attentional difficulties

1/1

6/8

7/9 (78%)

[26, 41, 55, 67, 70]

Bruxism

–

–

102/156 (65%)

[4, 5, 12, 32, 67, 71, 73, 77, 84]

Depression/depressive mood

1/1

1/3

2/4 (50%)

[41, 55]

High pain tolerance/pain insensitivity

–

–

102/171 (60%)

[4, 32, 77, 83, 147]

Hyperactivity

3/11

3/6

6/17 (35%)

[23, 49, 55, 70]

Night/inappropriate laughing

–

–

12/61 (20%)

[53, 74, 76]

Uncontrolled screaming spells

–

–

16/53 (30%)

[76]