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 labeling happy faces compared to children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared to 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 to healthy controls. Our findings underscore the need to devise age- and condition-specific assessment tools and intervention programs toward improving these children’s socio-cognitive deficits.

Deletion Syndrome 22q11.2: A Systematic Review

“…In line with what has been described, Karas et al [ 21 ] mention in their article that families felt they were not prepared to face the care of a person with this disorder, since at certain times they felt stressed and frustrated. In addition, Weisman et al [ 19 ] commented on various aspects of the mother-child relationship in relation to this syndrome. The mothers showed a higher level of intrusiveness, compared to mothers of children belonging to the control group, although the level of affection that the children showed to their mothers was of equal intensity in both groups.…”

Signals from the brain and olfactory epithelium control shaping of the mammalian nasal capsule cartilage

“…In addition to the evolutionary aspect, the role of different neurosensory structures (mainly the brain) in coordinated cartilage induction may suggest a new connection between neurological and craniofacial symptoms in numerous genetic syndromes. Examples of such conditions are Williams syndrome, Down syndrome and others that are manifested by behavioral and morphological abnormalities in the central nervous system ( Starbuck et al, 2017 ; Weisman et al, 2017 ; Vincent et al, 2014 ; Antshel et al, 2008 ) (and reviewed by [ Marcucio et al, 2011 ]). Based on this reasoning, it is possible to envision a mechanistic connection between the fine aspects of a facial geometry and individual features of the human brain.…”

Social behavior in 16p11.2 and 22q11.2 copy number variations: Insights from mice and humans

“…Deficits in the recognition of angry, disgusted, fearful and neutral faces but not of happy, surprised and sad faces were described, 70 , 71 even though the results are not consistently replicated. 72 , 73 , 74 Accuracy and reaction times in emotion recognition were measured in some studies, with opposing results. 54 , 75 , 76 , 77 Such discrepancies could be because of differences in the intensity of emotions presented during the tests, as 22q‐DEL carriers require more intense emotional cues to properly perform in these tasks.…”