Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome

Abstract

Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted.

Methods: Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes.

Results: The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations.

Conclusions: Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits.

Keywords: DiGeorge; children; neurogenetic disorders; social cognition; theory of mind (ToM); velocardiofacial syndrome.

Figure 1. Performance in a first-order false belief task

Legend: The 22q11.2DS group showed higher performance compared to the WS and IDD groups; Typically-developing (TD) participants demonstrated superior ability compared to all three clinical groups; Error bars depict standard deviations (SD); Mean±SD: TD: 13.15±1.72 > 22q11.2DS: 10.95±3.03 > IDD: 8.52±4.0, WS: 6.81±4.15; *p<.05, ***p<.001.

Figure 2. Distinguishing real from apparent emotions

Legend: The WS and IDD groups performed poorly compared to TD controls; The 22q11.2DS group performed similarly to TD controls; Error bars depict standard deviations; Mean±SD: TD: 7.25±1.3 > WS: 5.56±1.5, IDD: 5.32±1.3; 22q11.2DS: 6.35±1.3; ***p<.001.

Figure 3. Becoming friends with a story-character

Legend: Children with WS were more willing to become friends with a story-character even when the character’s motives were negative (i.e., they scored poorly in this question compared to the rest of the groups); Error bars depict standard deviation; Mean±SD: WS: 0.90±0.73 < TD: 1.82 ± 0.37, 22q11.2DS: 1.58±0.57, IDD: 1.52±0.69; ***p<.001.