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. 2023 Jul 28;18(7):e0288875. doi: 10.1371/journal.pone.0288875

Table 4. Influence of sex and type of RD on social implications (component 2) and functional impact (component 3; n = 524).

        n Median IQR p value (Mann-Whitney U test)
Social implications (Component 2) Sex Diagnostic delay Men 126 21 12–29 0.004*
Women 217 25 18–30
Diagnosis within a year Men 75 16 9–26 0.003*
Women 106 22 15–28
Type of RD Diseases of the musculoskeletal system and connective tissue DD 31 27 20–30 0.317
<1 year 29 23 18–29
Diseases of the nervous system DD 109 24 18–30 0.091
<1 year 46 21.5 13–27
Congenital malformations, deformations and chromosomal abnormalities DD 48 28.5 22–32 0.012*
<1 year 13 18 7–27
Diseases of the eye and adnexa DD 63 14 9–21 0.556
<1 year 32 13.5 9–19.5
Endocrine, nutritional and metabolic diseases DD 36 26.5 20–31 0.005*
<1 year 13 19 14–24
Others DD 56 22 16–29 0.969
<1 year 48 25 12.5–29
Functional impact (Component 3) Sex Diagnostic delay Men 126 11 8–14 0.198
Women 217 12 8–15
Diagnosis within a year Men 75 9 5–11 0.06*
Women 106 10.5 6–14
Type of RD Diseases of the musculoskeletal system and connective tissue DD 31 11 8–13 0.87
<1 year 29 10 9–14
Diseases of the nervous system DD 109 12 9–15 0.033*
<1 year 46 11 6–13
Congenital malformations, deformations and chromosomal abnormalities DD 48 12 8–14 0.060*
<1 year 13 9 3–12
Diseases of the eye and adnexa DD 63 10 7–13 0.566
<1 year 32 10 6–12.5
Endocrine, nutritional and metabolic diseases DD 36 12.0 8.5–14.5 <0.001*
<1 year 13 5.0 4–9
Others DD 56 9.0 6–13 0.743
<1 year 48 9.0 6–14.5

RD = rare disease; DD = diagnostic delay; <1 year = diagnosis within a year; IQR = interquartile range

*An asterisk indicates significance at p0<0.05