Table 4.
Diagnostic delays in the five most frequent rare disease groups in our sample
| Na | Perceived Delay N (%) |
No Perceived Delay N (%) |
Statistics | |
|---|---|---|---|---|
| Age Groups | ||||
| 0–4 | 126 | 52 (41.3) | 74 (58.7) | Chi-sq = 0.53, P = 0.77 |
| 5–12 | 135 | 60 (44.4) | 75 (55.6) | |
| 13–18 | 98 | 45 (45.9) | 53 (54.1) | |
| IRSAD | ||||
| Relatively disadvantaged (1st–5th decile) | 139 | 58 (42.0) | 81 (58.0) | Chi-sq = 0.37, P = 0.54 |
| Relatively advantaged (6th–10th decile) | 220 | 99 (45.0) | 121 (55.0) | |
| ARIA | ||||
| Major Australian City | 217 | 90 (41.5) | 127 (58.5) | Chi-sq = 0, P = 1 |
| Regional or remote Australia | 65 | 27 (41.5) | 38 (58.5) | |
| Diagnoses | ||||
| Inborn Errors of Metabolism | 152 | 46 (30.3) | 106 (69.7) | Chi-sq = 17.1, P < 0.0001 |
| Four other common diagnostic groups combined | 130 | 71 (54.6) | 59 (45.4) | |
| Genetic Syndromes | 50 | 23 (46.0) | 27 (44.0) | |
| Chromosomal disorders | 43 | 25 (58.1) | 18 (41.9) | |
| Congenital malformation Syndromes | 20 | 11 (55.0) | 9 (45.0) | |
| Neuromuscular disorders | 17 | 12 (70.6) | 5 (29.4 | |
aOf the 462 families, 359 gave a definitive answer about delayed diagnosis; the rest either did not answer or ticked “don’t know”