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. 2023 Jan 16;12:5. doi: 10.1186/s13643-023-02169-6

Table 4.

Meta-analysis of Rett prevalence (per 100,000 females)

Case definition criteria
Study
Country Rett
cases
Female
population
Prevalence
estimate
95%
LCL
95%
UCL
Clinical diagnosis onlya
 Fombonne et al. (2003) [19] UK 2 5227 38.3 4.6 138.0
 Chakrabarti et al. (2005) [20] UK 1 13202 7.6 0.2 42.2
 Aguilera et al. (2007) [18] Spain 1 63675 1.6 0.0 8.7
 Isaksen et al. (2012) [16] Norway 3 15662 19.2 4.0 56.0
 Strømme et al. (2000) [15] Norway 1 14542 6.9 0.2 38.3
 Magnússon et al. (2001) [14] Iceland 0 41896 0.0 0.0 8.8
 Pooled prevalence 8 154204 6.7 2.0 22.0
Clinical diagnosis + genetic testingb
 Wong et al. (2007) [22] China 7 123968 5.6 2.3 11.6
 Sarajlija et al. (2015) [17] Serbia 102 857142 11.9 9.7 14.4
 Bienvenu et al. (2006) [13] France 251 4337627 5.8 5.1 6.5
 Fehr et al. (2011) [21] Australia 305 4094386 7.4 6.6 8.3
 Pooled prevalence 665 9413123 7.6 5.4 10.8
All studiesc 673 9567327 7.1 4.8 10.5
 Pooled prevalence

aGenetic testing not reported in the study publications (n = 6 studies, Q = 13.0; df = 5; heterogeneity p = 0.0231; I2 =0.616)

bGenetic testing reported in the study publications (n = 4 studies, Q = 36.6; df = 3; heterogeneity p<0.001; I2 = 0.918)

cAll eligible publications (n = 10 studies, Q = 53.3; df = 9; heterogeneity p<0.001; I2 = 0.831, subgroup difference p=0.84)

LCL Lower confidence limit, UCL Upper confidence limit