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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 %