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

From: Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

  Never/no Mild Moderate Severe Corrective surgery/treatment/medication?
N (%) N (%) N (%) N (%) N (%)
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)