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Table 5 Physical Health Problems in 101 PTHS Individuals

From: Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

Age

0–2 years (n = 16)

3–5 years (n = 22)

6–10 year (n = 23)

11–15 years (n = 16)

16–20 year (n = 4)

21–25 years (n = 8)

26 years + (n = 2)

Epilepsy

 History of seizures

31.3 %

18.2 %

17.4 %

62.5 %

0 %

62.5 %

50.0 %

 Currently seizures (out of those with a positive history)

16.7 %

100 %

44.4 %

45.5 %

0 %

60.0 %

50.0 %

Breathing

 History of breathing anomalies

20.0 %

22.7 %

21.7 %

68.8 %

100 %

50.0 %

100 %

 Currently breathing anomalies (out of those with a positive history)

50.0 %

80.0 %

50.0 %

70.0 %

100 %

75.0 %

100 %

Gastrointestinal problems

 Gastro-oesophageal reflux

56.3 %

42.9 %

33.3 %

28.6 %

25.0 %

14.3 %

50.0 %

 Constipation

73.3 %

81.0 %

86.4 %

86.7 %

66.7 %

62.5 %

100 %

All ages

 (Excessive) burping

28.7 %

 Other gut problems

2.4 %

Vision

 Near-sighted

31.7 %

 Far sighted

21.7 %

 Strabismus

44.7 %

 Nystagmus

19.0 %

 Tear duct blockage

11.8 %

Hearing

 Examined

97.7 %

 Impaired

10.3 %

Ability to smell

 Hypersensitive to smell

2.4 %

 (Seemingly) inability to smell

1.2 %

Mouth/tooth

 Caries

8.3 %

 Excessive drooling

81.4 %

 Other intra-oral problems

41.2 %

Urogenital problems

 Retractile testicles (n = 48)

6.3 %

 Uni-/bilateral cryptorchidism

33.3 %

 Surgical correction cryptorchidism

50.0 %

 Other urogenital problems

17.4 %

Muscles/joints

 Hypotonia

75.9 %

 Hypertonia

6.9 %

 Dislocated joints

1.1 %

 Limited mobility fingers/wrists

27.9 %

Infections

 Frequent recurrent infections

35.2 %