Table 4 Health difficulties experienced by individuals with Pitt-Hopkins syndrome as taken from the Health Questionnaire

Eye problems

Lifetime

17 (70.8)

2 (8.3)

3 (12.5)

2 (8.3)

5 (71.4)

Last month

23 (95.8)

1 (4.2)

–

–

Ear problems

Lifetime

12 (50)

8 (33.3)

3 (12.5)

1 (4.2)

4 (33.3)

Last month

23 (95.8)

–

1 (4.2)

–

Dental problems

Lifetime

20 (83.3)

1 (4.2)

2 (8.3)

1 (4.2)

1 (25)

Last month

23 (95.8)

1 (4.2)

–

–

Cleft palate

Lifetime

24 (100)

–

–

–

–

Last month

23 (95.8)

1 (4.2)

–

–

Gastrointestinal problems

Lifetime

4 (16.7)

9 (37.5)

7 (29.2)

4 (16.7)

7 (35)

Last month

11 (45.8)

9 (37.5)

3 (12.5)

1 (4.2)

Bowel problems

Lifetime

5 (20.8)

14 (58.3)

2 (8.3)

3 (12.5)

3 (15.8)

Last month

13 (54.2)

7 (29.2)

3 (12.5)

1 (4.2)

Heart abnormalities or circulatory problems

Lifetime

22 (91.7)

1 (4.2)

1 (4.2)

–

–

Last month

24 (100)

–

–

–

Problems with genitalia

Lifetime

21 (87.5)

1 (4.2)

2 (8.3)

–

2 (66.7)

Last month

24 (100)

–

–

–

Hernia

Lifetime

23 (95.8)

–

–

1 (4.2)

1 (100)

Last month

23 (95.8)

1 (4.2)

–

–

Limb abnormalities

Lifetime

24 (100)

–

–

–

–

Last month

24 (100)

–

–

–

Epilepsy/seizures

Lifetime

12 (50)

8 (33.3)

4 (16.7)

–

5 (41.7)

Last month

20 (83.3)

2 (8.3)

2 (8.3)

–

Lung or respiratory problems

Lifetime

20 (83.3)

3 (12.5)

1 (4.2)

–

3 (75)

Last month

24 (100)

–

–

–

Liver or kidney problems

Lifetime

24 (100)

–

–

–

–

Last month

24 (100)

–

–

–

Diabetes or thyroid function problems

Lifetime

24 (100)

–

–

–

–

Last month

24 (100)

–

–

–

Skin problems

Lifetime

13 (54.2)

7 (29.2)

3 (12.5)

1 (4.2)

5 (45.5)

Last month

16 (66.7)

4 (16.7)

4 (16.7)

–