Fig. 5: Relationship between the deletion FC-signatures and behavior.

a Boxplots represent the connectivity similarity for two seed regions (thalamus and perigenual anterior cingulate cortex). Boxplots display the 25th, 50th, and 75th percentile of the underlying data. Boxplot whiskers encompass data points within 1.5 times the interquartile range from the median line and more extreme data points are labeled with outlier fliers. Each data point represents one individual: r-value of the Pearson correlation between the deletion FC-signatures and the FC-profile of an individual with ASD (n = 225 in the colored boxplots) or a control subject (n = 234 in the non-colored boxplots). For the two seed regions, individuals with ASD show significantly higher similarity (FDR, q < 0.05) with the 16p11.2 (pink) and 22q11.2 (yellow) deletion FC-signatures than the individual controls. All seed regions showing significantly higher similarity with ASD are represented in the Venn diagram on the left. b We investigated the relationship with cognitive scores and found that stronger individual similarity (Pearson’s r) with the deletion FC-signature was associated with more severe symptoms measured by FSIQ and ADOS. Heatmaps show the level of correlation (FDR, q < 0.05, two-sided) between behavior scores and the similarity with deletion FC-signatures. 16pDel 16p11.2 deletion, 22qDel 22q11.2 deletion, FSIQ full-scale intelligence quotient, ADOS autism diagnostic observation schedule, ant. anterior, post posterior, v. ventral, PFC prefrontal cortex, cereb cerebellum, d. dorsal, L left, ctx cortex, net. network. Full-name labels are provided in Supplementary Data 1.9.