From: A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Feature | Males n/N | Females n/N | Total n/N (%) | References |
---|---|---|---|---|
Abdominal bloating | – | – | 18/47 (38%) | |
Bowel/pseudointestinal obstruction | 4/25 | NR | 4/25 (16%) | |
Constipation | – | – | 330/456 (72%) | [4, 11, 17, 18, 22, 24, 25, 27, 29, 30, 32, 35, 38, 40, 42, 43, 48, 51, 59, 63, 64, 67, 69,70,71, 74,75,76,77,78, 80, 83,84,85,86,87] |
Drooling | – | – | 118/168 (70%) | [4, 12, 13, 20, 21, 25, 27, 31, 32, 34, 43, 44, 52, 59, 71, 73, 77, 82, 86] |
Swallowing difficulties | 57/112 | 3/7 | 60/119 (50%) | [1, 3, 5, 12, 13, 19, 25, 28, 32, 38, 43, 51, 52, 59, 84, 85] |
Aspiration | 14/32 | 1/2 | 15/34 (44%) | |
Feeding problems | 88/163 | 9/23 | 97/186 (52%) | [5, 9, 11, 16, 21, 25, 27, 29, 31, 32, 36, 43, 44, 51, 55, 59, 63, 64, 69,70,71, 73,74,75, 77, 81, 84, 86] |
Gastro-oesophageal reflux | – | – | 141/261 (54%) | [1, 4, 8, 11, 13, 16, 32, 38, 40, 43, 54, 64, 71, 76, 77, 81, 83,84,85] |
Hirschsprung disease | 2/4 | NR | 2/4 (50%) |