Table 2.
Descriptives of the 101 Individuals with PTHS
| 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 % | |