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 % |