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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 %