Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Abstract

Background22q11.2 deletion syndrome (22q11.2DS) is a common neurogenetic syndrome associated with high rates of psychosis. The aims of the present study were to identify the unique temperament traits that characterize children with 22q11.2DS compared to children with Williams syndrome (WS) and typically developing (TD) controls, and to examine temperamental predictors of the emergence of psychosis in 22q11.2DS.MethodsThe temperament of 55 children with 22q11.2DS, 36 with WS, and 280 TD children was assessed using the Emotionality, Activity, Sociability (EAS) Temperament Survey, Parental Ratings. The presence of a psychotic disorder was evaluated in 49 children and adolescents with 22q11.2DS at baseline and again 5.43 ± 2.23 years after baseline temperament assessment.ResultsChildren with 22q11.2DS scored higher on Shyness compared to WS and TD controls. Children with 22q11.2DS and WS scored higher on Emotionality and lower on Activity compared to TD controls. Shyness was more severe in older compared to younger children with 22q11.2DS. Baseline Shyness scores significantly predicted the later emergence of a psychotic disorder at follow-up, in children with 22q11.2DS.ConclusionsOur results suggest that shyness is an early marker associated with the later emergence of psychosis in 22q11.2DS.

Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome

“…Children with 22q11.2DS are significantly more socially inhibited and withdrawn than their peers (Schonherz et al, 2014; Swillen et al, 1997) and demonstrate more problem behaviors (e.g., internalizing behaviors) that interfere with social functioning than their peers (Shashi et al, 2012). Parents of children with 22q11.2DS do not report a delay in early social developmental milestones (Roizen et al, 2007).…”

Mother–Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

“…Conversely, individuals with 22q11.2DS are known to be shy, socially inhibited, tend to avoid social encounters, and frequently exhibit restricted emotional expression and deficient ability to understand others' intentions (Ho et al 2012;Schonherz et al 2014;Swillen et al 1999). Children with 22q11.2DS are also reported by caregivers as being less cheerful and pleasant, less likely to stay with an activity for a long time, and less capable of responding flexibly to changes in comparison to their healthy siblings and TD controls (Antshel et al 2007;Angkustsiri et al 2014).…”

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

“…They usually exhibit extreme shyness, avoidance, coupled with restricted affect (Shprintzen ; Schonherz et al . ; Swillen and McDonald‐Mcginn ) and deficient ability to categorise facial stimuli (Andersson et al . ; Campbell et al .…”

“…The cognitive profile of individuals with 22q11.2DS is characterised by an average FSIQ score of 75 points (at the borderline range; Swillen et al 1999), alongside adequate visuospatial and numerical processing but impaired verbal processing (Bearden et al 2001;Simon et al 2005;Gothelf 2007). They usually exhibit extreme shyness, avoidance, coupled with restricted affect (Shprintzen 2008;Schonherz et al 2014;Swillen and McDonald-Mcginn 2015) and deficient ability to categorise facial stimuli (Andersson et al 2008;Campbell et al 2010). Other studies point for impairments in false belief and emotion attribution abilities in 22q11.2DS compared with typically developing (TD) controls .…”