Cognitive, Social, and Emotional-Behavioral Outcomes in Children and Adolescents With Beckwith-Wiedemann Syndrome.

ABSTRACT

Although Beckwith-Wiedemann syndrome spectrum (BWSp) is not usually associated with intellectual disability, recent evidences calls for further investigation of cognitive development and academic skills in children with BWSp. Moreover, research has documented social difficulties and emotional-behavioral problems associated with BWSp. Nevertheless, a full characterization of socio-emotional development in BWSp is still lacking. In the current study, cognitive and socio-emotional development was assessed in 29 children with BWSp aged 5-18 years, using a test of nonverbal intelligence, a neuropsychological battery covering multiple domains, academic skills tests, and questionnaires evaluating autistic traits and emotional-behavioral problems. As expected, most participants showed adequate performance in cognitive tests. However, the findings also highlighted greater difficulties in language than visuospatial processing, strengths in social perception, as well as slowness in reading and mental calculation. The assessment of emotional-behavioral difficulties indicated a prevalent phenotype characterized by increased anxiety, low self-esteem, social withdrawal and a tendency to control externalizing reactions, but no associations with autistic traits, cognitive outcomes, and the clinical score proposed by the recent Consensus statement. Increased social perception and internalization problems likely result from coping strategies with social and care-related stress. Overall, the findings of this study inform clinical management and genetic counseling for children and adolescents with BWSp.