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Table 7 Summary of gastrointestinal problems 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

Abdominal bloating

18/47 (38%)

[22, 76]

Bowel/pseudointestinal obstruction

4/25

NR

4/25 (16%)

[17, 38, 52]

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%)

[1, 3, 32, 40, 52, 53, 57, 64, 72, 81, 82]

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%)

[17, 22, 24]

  1. “Functional abnormalities of the GI tract” have been reported in 11/20 (55%) individuals with MDS, [83] with no further description