Longitudinal investigation of cognition, social competence, and anxiety in children and adolescents with Turner syndrome

Turner syndrome (TS), a common neurogenetic disorder caused by complete or partial absence of an X chro-mosome in females, is characterized by distinct physical, cognitive, and social-emotional features. Girls with TS typically display average overall intellectual functioning with relative strength in verbal abilities and weaknesses in visuospatial processing, executive function (EF), and social cognition. This study was designed to better un-derstand longitudinal trajectories of cognitive and social-emotional domains commonly affected in TS. Partici-pants included 57 girls with monosomic 45,X TS and 55 age-and verbal-IQ matched girls who completed behavioral, child-report, and parent-report measures across four timepoints. Group differences in visuospatial processing, EF, social cognition, and anxiety were assessed longitudinally. Potential effects of estrogen replacement therapy (ERT) were assessed cross-sectionally on an exploratory basis. The TS group showed poorer performance on measures of visuospatial processing, EF, and social cognition, but not anxiety, compared to controls throughout childhood and adolescence. There were no significant group differences in the trajectory of skill development over time. Exploratory analyses within the TS group revealed that girls who were receiving ERT showed better performance on measures of overall IQ, expressive vocabulary, and visuospatial processing compared to those not receiving ERT. Consistent with existing literature, weaknesses in visuospatial processing, EF, and social competence among girls with TS persisted throughout childhood and adolescence. Exploratory analyses suggest that ERT may help improve some aspects of cognitive function in TS, although other pre-existing, nonhormonal differences between the two TS subgroups may alternatively explain these findings, given our study design. Future studies are needed to examine potential impacts of ERT on cognitive and social -emotional development in TS.

Automated summary

Turner syndrome (TS) is a neurogenetic disorder characterized by physical, cognitive, and social-emotional features, caused by the absence of an X chromosome in females. Girls with TS typically show strengths in verbal abilities and weaknesses in visuospatial processing, executive function, and social cognition. This study examined the long-term trajectories of cognitive and social-emotional domains in TS and found that girls with TS exhibited poorer performance in visuospatial processing, executive function, and social cognition compared to controls throughout childhood and adolescence. Exploratory analyses suggested that estrogen replacement therapy (ERT) may have some positive effects on cognitive function in TS. Further research is needed to investigate the potential impacts of ERT on cognitive and social-emotional development in TS.