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 | Â | Â | Â | Â |
Autism diagnosis | 31/46 | 3/4 | 34/50 (68%) | |
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%) | |
Compulsive behaviours | 1/5 | 2/3 | 3/8 (38%) | [5] |
Difficulty adjusting to change | 8/14 | 2/3 | 10/17 (59%) | |
Gaze avoidance/difficulty using eye gaze | 40/54 | 4/7 | 44/61 (72%) | |
Hyperacusis | NR | 2/5 | 2/5 (40%) | |
Impaired social interactions | 34/41 | 4/5 | 38/46 (83%) | |
Repetitive behaviours | 18/23 | 3/7 | 21/30 (70%) | |
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 | Â | Â | Â | Â |
Aggression | NR | 2/7 | 2/7 (29%) | |
Attentional difficulties | 1/1 | 6/8 | 7/9 (78%) | |
Bruxism | – | – | 102/156 (65%) | |
Depression/depressive mood | 1/1 | 1/3 | 2/4 (50%) | |
High pain tolerance/pain insensitivity | – | – | 102/171 (60%) | |
Hyperactivity | 3/11 | 3/6 | 6/17 (35%) | |
Night/inappropriate laughing | – | – | 12/61 (20%) | |
Uncontrolled screaming spells | – | – | 16/53 (30%) | [76] |