Table 1.
Participant characteristics.
| Characteristic | N or range and mean |
|---|---|
| Age of participant | 25–49 years; mean = 39 years |
| Sex of participant | |
| Female | 13 |
| Male | 7 |
| Age of child | 10 months–18 years; mean = 10 years; 2 children were deceased |
| Gender of child | |
| Female | 8 |
| Male | 13 |
| Condition type | |
| Neurological | 6 |
| Intellectual disability/ developmental delay | 5 |
| Metabolic | 3 |
| Mitochondrial | 2 |
| Endocrine | 2 |
| Cardiovascular | 1 |
| Dermatological | 1 |
| Primary ciliary disorder | 1 |
| Diagnosis with unknown genetic aetiology | |
| ‘Working diagnosis’ | 13 |
| None | 8 |
One parent had two children enrolled in the study.