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Table 4 Diagnostic delays in the five most frequent rare disease groups in our sample

From: Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

  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  
  1. aOf the 462 families, 359 gave a definitive answer about delayed diagnosis; the rest either did not answer or ticked “don’t know”