Table 3 Health professionals and others involved in diagnosis
Who initially raised the possibility of your child’s diagnosis? | N (%) | Who confirmed the final diagnosis for your child? | N (%) |
|---|---|---|---|
Paediatrician | 114 (26.6) | Geneticist | 194 (45.3) |
Geneticist | 83 19.4) | Paediatrician | 74 17.3) |
Neurologist | 43 (10.0) | Neurologist | 54 (12.6) |
Testing/newborn screening | 24 (5.6) | Metabolic specialist | 18 (4.2) |
Nurse | 20 (4.7) | Team of Specialists | 11 (2.6) |
General Practitioner | 18 (4.2) | Cardiologist | 8 (1.9) |
Obstetrician | 17 (4.0) | Gastroenterologist | 5 (1.2) |
Parent | 17 (4.0) | General Practitioner | 4 (0.9) |
Neonatologist | 9 (2.1) | Neonatologist | 4 (0.9) |
Team of Specialists | 9 (2.1) | Nephrologist | 4 (0.9) |
Relative | 7 (1.6) | Obstetrician | 3 (0.7) |
Metabolic specialist | 7 (1.6) | Ophthalmologist | 3 (0.7) |
Allied Health Professional | 7 (1.6) | Surgeon | 3 (0.7) |
Cardiologist | 5 (1.2) | Haematologist | 2 (0.5) |
Gastroenterologist | 5 (1.2) | Dermatologist | 2 (0.5) |
Teacher | 4 (0.9) | Nurse | 1 (0.2) |
Nephrologist | 3 (0.7) | Rheumatologist | 1 (0.2) |
Dermatologist | 3 (0.7) | Radiologist | 1 (0.2) |
Haematologist | 2 (0.5) | Oncologist | 1 (0.2) |
Ophthalmologist | 2 (0.5) | Respiratory physician | 1 (0.2) |
Surgeon | 2 (0.5) | Intensivist | 1 (0.2) |
Emergency Specialist | 2 (0.5) | Immunologist | 1 (0.2) |
Rheumatologist | 1 (0.2) | Hepatologist | 1 (0.2) |
Radiologist | 1 (0.2) | Endocrinologist | 1 (0.2) |
Endocrinologist | 1 (0.2) | Otherb | 15 (3.6) |
Respiratory physician | 1 (0.2) | ||
Anaesthetist | 1 (0.2) | ||
Dentist | 1 (0.2) | ||
Othera | 7 (1.6) | ||
Total responses | 420 | Total responses | 415 |