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Table 2 Time to diagnosis and diagnostic delays for RDs in Spain, based on characteristics of the disease and people affected

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

  1. *Reference groups
  2. **People affected by Toxic oil syndrome, who were diagnosed less than one year from the onset of the epidemic in 1981
  3. IQR interquartile range; OR odds ratio; NS no significant difference (p > 0.05)