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.
Highlights
Genetic syndromes with well-defined etiologies provide an excellent opportunity for examining the contributions of genetic defects to unique behaviors
Comparing behavioral phenotypes, such as temperament, between neurogenetic syndromes is important for identifying which features are common to both syndromes and which features are specific to each syndrome
Our results indicate that children with 22q11.2DS and Williams syndrome (WS) have distinct behavioral phenotypes
Summary
Genetic syndromes with well-defined etiologies provide an excellent opportunity for examining the contributions of genetic defects to unique behaviors. The 22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are known neurogenetic autosomal dominant syndromes, both caused by a microdeletion, 22q11.2DS in the long arm of chromosome 22 [1] and WS in the long arm of chromosome 7 (7q11.23) [2]. Both 22q11.2DS and WS are characterized by physical and psychiatric. Comparing behavioral phenotypes, such as temperament, between neurogenetic syndromes is important for identifying which features are common to both syndromes (suggesting non-specific effects of coping with a developmental disability) and which features are specific to each syndrome (suggesting a more specific genetic cause)
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