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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

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Prevalence and meta-analysis of copy number variant studies in ASD.

A. The prevalence and the confidence interval from a set of single copy number variant studies and the pooled prevalence and the confidence interval of the meta-analysis. The prevalence is indicated by circles in red, pink, purple and black for “ASD all” (all ASD patients), “ASD IQ<70” (patients with ID; IQ<70), “ASD IQ>70” (patients with IQ in the normal range), and “CTRL” (controls), respectively. The plotted circles are proportional to the corresponding sample size. B. Meta-analysis of the copy number variants altering SHANK genes. For each study, the Odds ratio and confidence interval are given. Each meta-analysis is calculated using inverse variance method for fixed (IV-FEM) and random effects (IV-REM). The statistics measuring heterogeneity (Q, I2 and Tau2) are indicated. The number under the scatter plot correspond to independent studies: 1 = “[The Paris cohort: this study+Durand et al. 2007 [6]; Sato et al. 2012 [19]; Leblond et al. 2012 [18]]”, 2 = “[Moessner et al. (2007) [13]; Marshall et al. (2008) [52]; Pinto et al. (2010) [8]; Berkel et al. (2010) [14]; Sato et al. (2012) [19]]”, 3 = “Bremer et al. (2010) [53]”, 4 = “Glessner et al. (2009) [34]”, 5 = “Sanders et al. (2011) [9]”, and 6 = “Sebat et al. (2007) [51]”. IV, Inverse Variance; FEM, Fixed Effect Method; REM, Random Effect Method; OR, Odds Ratio; CI, Confidence Interval; IQ, Intellectual Quotient; CNV, Copy Number Variant.

Figure 2

doi: https://doi.org/10.1371/journal.pgen.1004580.g002