From: Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
Variable | Category | Time to diagnosis | Diagnostic delay (> 1 year) | |||
---|---|---|---|---|---|---|
n | Median (IQR) | Percentage | OR (95% CI) | p value | ||
Sex | Men* | 1454 | 5.6 (0.1–6.3) | 53.4 | 0.005 | |
Women | 1850 | 6.7 (0.2–8.5) | 58.8 | 1.25 (1.07–1.45) | 0.005 | |
Age of onset of symptoms | < 15 years* | 1554 | 7.7 (0.1–10) | 55.2 | NS | |
15–29 years | 625 | 7.1 (0.2–11) | 61.8 | 1.19 (0.96–1.48) | NS | |
30–44 years | 669 | 4.1 (0.4–5.4) | 59.0 | 1.48 (1.19–1.84) | < 0.001 | |
> 45 years | 424 | 2.6 (0.2–3.1) | 50.5 | 1.24 (0.96–1.60) | NS | |
Decade of symptom onset | 2010–2021* | 969 | 0.9 (0.1–2.4) | 40.4 | < 0.001 | |
2000–2009 | 983 | 1.8 (0.2–5.7) | 56.5 | 1.95 (1.62–2.35) | ||
1990–1999 | 503 | 3.0 (0.3–11.0) | 65.0 | 2.90 (2.28–3.67) | ||
1980–1989 | 376 | 6.0 (0.4–19.0) | 69.7 | 4.60 (3.46–6.13) | ||
Until 1979 | 431 | 13.1 (1–32.7) | 74.0 | 5.27 (4.00–6.94) | ||
Type of RD | Endocrine, nutritional and metabolic diseases * | 267 | 6.1 (0.3–6.3) | 55.4 | < 0.001 | |
Diseases of the nervous system | 822 | 6.3 (0.6–7.9) | 64.2 | 1.39 (1.02–1.88) | 0.035 | |
Congenital malformations, deformations and chromosomal abnormalities | 700 | 5.8 (0–6.5) | 48.4 | 0.70 (0.51–0.94) | 0.016 | |
Diseases of the eye and adnexa | 668 | 7.6 (0–10.0) | 62.9 | 1.03 (0.76–1.40) | NS | |
Diseases of the musculoskeletal system and connective tissue | 245 | 4.6 (0.3–5.5) | 53.1 | 0.87 (0.60–1.27) | NS | |
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | 235 | 6.5 (0–7.8) | 44.7 | 0.64 (0.44–0.94) | 0.021 | |
Diseases of the circulatory system | 82 | 5.1 (0.1–4.9) | 51.2 | 0.70 (0.41–1.2) | NS | |
Mental and behavioural disorders | 77 | 7.3 (1.2–10.9) | 77.9 | 4.21 (2.26–7.85) | < 0.001 | |
Neoplasm | 65 | 4.1 (0.1–2.8) | 35.4 | 0.48 (0.26–0.87) | 0.015 | |
Diseases of the genitourinary system | 43 | 6.3 (1–6.2) | 67.4 | 1.64 (0.80–3.34) | NS | |
Diseases of the skin and subcutaneous tissue | 30 | 5.2 (0.1–7.8) | 53.3 | 0.80 (0.36–1.74) | NS | |
Diseases of the digestive system | 25 | 2.1 (0–3.6) | 48.0 | 0.83 (0.35–1.97) | NS | |
External causes of morbidity and mortality** | 20 | 0.1 (0–0.1) | 0.0 | 0.00 | NS | |
Diseases of the respiratory system | 17 | 1.8 (0.2–2.5) | 41.2 | 0.78 (0.28–2.17) | NS | |
Others | 8 | 5.6 (0.4–6.8) | 62.5 | 1.78 (0.40–7.88) | NS |