ASD top scoring gene network.

<p>This network illustrates the 14 top scoring genes included in the ASD LCC and their first neighbors. Nodes are colored based on a score reflecting their presence in the second ASD dataset and in the 6 unrelated diseases LCCs. A darker color represents a higher score, which means a higher specificity for ASD.</p

Network properties of proteins selected at gene-wise <i>P</i><0.1 in each ASD.

<p><b>a</b>) Comparison of percentage of direct interactions and isolated nodes between proteins selected at gene-wise <i>P</i><0.1 in each GWAS dataset (red circles) vs 1000 random samples of network proteins (represented by light gray and dark gray box plots, for direct interactions and isolated nodes, respectively). The bottom and top of the box represent the 25th and 75th percentile and the extremity of the whiskers the maximum and minimum of the random samples data. <b>b</b>) Same comparison for the largest connected component (LCC) size.</p

Precision and recall were consistently higher for LCC genes relative to top GWAS genes or genes selected at <i>P</i><0.1.

<p>Precision and Recall (Percentage), by ASD dataset, of three sets of genes (genes selected at a gene wise <i>P</i>-value cutoff of 0.1, genes included in the LCC and the same number of GWAS top genes) against a list of known disease candidates.</p><p>Precision and recall were consistently higher for LCC genes relative to top GWAS genes or genes selected at <i>P</i><0.1.</p

Workflow of the strategy for network definition, validation and identification of most relevant candidate genes.

<p>Workflow of the strategy for network definition, validation and identification of most relevant candidate genes.</p

Visuoconstructive integrative abilities.

<p>Integration score for all groups indicating the number of subjects who were able to integrate the local elements in order to correctly reproduce the global configuration regarding the geometric hierarchical figure (Triangle) and the hierarchical letter (‘P’). WS  =  Williams Syndrome group; ASD_ID  =  Autism Spectrum Disorders group with intellectual disability; ASD_noID  =  Autism Spectrum Disorders group without intellectual disability; C_TD  =  typical developing control group; C_ID  =  control group with intellectual disability.</p

Illustration of the Visual Preference Tasks.

<p>Example of the configurations used in A) visual perception preference tasks and B) visual memory preference tasks. C) Illustration of the non-inversion, local-inversion and global-inversion conditions used on visual perception preference and visual memory preference tasks to assess preference invariance to global and local rotation. Note. Figures are presented according to the real scale (not real size) and, therefore, visibility was higher in the experimental task.</p

Mean percentage of global responses for all clinical and control groups for the visual perception preference task conditions and the visual memory preference task conditions.

<p>Given the bimodal pattern found in WS only for this task, and for sake of clarity we plot two WS subgroups, according to dominantly local or global preference (see text). WS_local  =  Williams Syndrome subgroup with local bias; WS_global  =  Williams Syndrome subgroup with global bias; ASD_ID  =  Autism Spectrum Disorders group with intellectual disability; ASD_noID  =  Autism Spectrum Disorders group without intellectual disability; C_TD  =  typically developing control group; C_ID  =  control group with intellectual disability.</p

Examples of drawings produced by clinical and control groups.

<p>WS  =  Williams Syndrome group; ASD_ID  =  Autism Spectrum Disorders group with intellectual disability; ASD_noID  =  Autism Spectrum Disorders group without intellectual disability; C_TD  =  typically developing control group; C_ID  =  control group with intellectual disability.</p

Comparison of blinded Integration score obtained from two independent raters.

<p>All comparisons signaled in red are significant and related to lower integration scores.</p><p>Fisher’s Exact Test; * p<0.05, **p<0.001.</p><p>WS  =  Williams Syndrome group; ASD_ID  =  Autism Spectrum Disorders group with intellectual disability; ASD_noID  =  Autism Spectrum Disorders group without intellectual disability; C_TD  =  typically developing control group; C_ID  =  control group with intellectual disability.</p

Comparison of blinded Local and Global scores obtained from two independent raters of the visuoconstructive drawing task.

<p>All comparisons signaled in red are significant and related to lower global and local scores.</p><p>Mann-Whitney U tests; **p<0.001.</p><p>WS  =  Williams Syndrome group; ASD_ID  =  Autism Spectrum Disorders group with intellectual disability; ASD_noID  =  Autism Spectrum Disorders group without intellectual disability; C_TD  =  typically developing control group; C_ID  =  control group with intellectual disability.</p