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Table 2 Descriptives of the 101 Individuals with PTHS

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

  Percent
Male 54.5
Female 45.5
Age 0–5 years 40.6
6–10 year 24.8
11–15 years 17.8
16–20 year 6.9
21–25 years 7.9
26–30 year 1.0
31–35 years 1.0
First suspicion something was wrong During pregnancy 3.1 %
Birth-6 months 56.3 %
>6 months-1 year 38.5 %
>1 year 2.1 %
Age at diagnosis Mean 7.1 year, range: 3 weeks–27 years
Cause of PTHS TCF4 deletion 41.1 %
TCF4 mutation 51.1 %
NRXN1 mutation 2.2 %
Parent not sure but abnormality present 5.6 %
Who made the diagnosis Geneticist 86.6 %
Paediatrician 7.2 %
Neurologist 5.2 %
Other 1.0 %