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Table 12 Impact of signs, symptoms and events in proxy children (n = 325)a

From: The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

n, (%)

n affectedb

Severely impacted

Moderately impacted

Mildly impacted

Very mildly impacted

Not impacted

I don’t know

Prefer not to say

Missing

Basilar invagination

12

0 (0)

4 (1)

1 (0.3)

2 (0.6)

3 (0.9)

1 (0.3)

0 (0)

1 (0.3)

Dental problems

166

24 (7)

63 (19)

44 (14)

13 (4)

3 (0.9)

1 (0.3)

1 (0.3)

18 (6)

Eye or vision problems

69

6 (2)

19 (6)

20 (6)

11 (3)

4 (1)

2 (0.6)

2 (0.6)

7 (2)

Fatigue

170

26 (8)

63 (19)

46 (14)

13 (4)

2 (0.6)

2 (0.6)

0 (0)

18 (6)

Fractures

243

97 (30)

87 (27)

29 (9)

5 (2)

1 (0.3)

1 (0.3)

1 (0.3)

23 (7)

Gynaecological and menstruation problems

2

0 (0)

1 (0.7)

1 (0.7)

0 (0)

0 (0)

0 (0)

0 (0)

0 (0)

Hearing problems

20

3 (0.9)

3 (0.9)

5 (2)

2 (0.6)

4 (1)

0 (0)

0 (0)

3 (0.9)

Heart problems

11

1 (0.3)

1 (0.3)

4 (1)

1 (0.3)

4 (1)

0 (0)

0 (0)

0 (0)

High blood pressure

1

0 (0)

0 (0)

1 (0.3)

0 (0)

0 (0)

0 (0)

0 (0)

0 (0)

Hypermobility

139

9 (3)

47 (14)

26 (8)

15 (5)

16 (5)

5 (2)

0 (0)

21 (6)

Joint problems

47

8 (2)

12 (4)

10 (3)

9 (3)

1 (0.3)

1 (0.3)

1 (0.3)

5 (2)

Kidney and bladder problems

18

0 (0)

4 (1)

10 (3)

3 (0.9)

0 (0)

0 (0)

0 (0)

1 (0.3)

Low and underweight

78

17 (5)

19 (6)

15 (5)

9 (3)

9 (3)

0 (0)

0 (0)

9 (3)

Lung or breathing problems

24

7 (2)

10 (3)

5 (1)

1 (0.3)

0 (0)

1 (0.3)

0 (0)

0 (0)

Mental health problems

86

20 (6)

33 (10)

14 (4)

5 (2)

0 (0)

0 (0)

0 (0)

14 (4)

Obesity and overweight

32

5 (2)

11 (3)

10 (3)

1 (0.3)

1 (0.3)

0 (0)

0 (0)

4 (1)

Pain

261

60 (18)

108 (33)

48 (15)

12 (4)

3 (0.9)

2 (0.6)

0 (0)

28 (9)

Problems with chewing, swallowing, and speaking

41

10 (3)

11 (4)

11 (4)

5 (2)

1 (0.3)

0 (0)

0 (0)

3 (0.9)

Scoliosis or other bone problems

105

27 (8)

32 (10)

21 (6)

7 (2)

5 (2)

3 (0.9)

0 (0)

10 (3)

Sleep disturbance

73

20 (6)

27 (8)

12 (4)

4 (1)

0 (0)

0 (0)

0 (0)

10 (3)

Soft tissue problems or injuries

132

16 (5)

53 (16)

33 (10)

9 (3)

1 (0.3)

5 (2)

0 (0)

15 (5)

Stomach and bowel problems

122

15 (5)

43 (13)

34 (10)

11 (3)

5 (2)

1 (0.3)

0 (0)

13 (4)

  1. OI, osteogenesis imperfecta
  2. aQuestions 188, 191, 193, 194, 195, 197–215 “In the past 12 months, how has x impacted your child’s life”, where x is any clinical sign, symptom or event participants reported to have experienced in the past 12 month in questions 187. Respondents chose a single answer option from a 5-level Likert scale “Not at all impacted–Severely impacted” and I don’t know, prefer not to say. bBased on responses to question 187. Percentages of affected individuals were calculated for the overall population of 325 children for all but gynaecological problems, where percentages were calculated based on the number of girls (n = 137) in the survey
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172