A Further Characterisation of the Neuropsychological Profile, Social Perception, and Academic Skills in Sotos Syndrome

Sotos syndrome (SoS) is a rare genetic disorder characterised by physical overgrowth and by frequent intellectual disability and comorbidity with neurodevelopmental disorders. A recent study documented a specific cognitive profile of SoS. However, further research is needed to replicate and expand these findings to other neuropsychological domains, including social perception. Moreover, numeracy has long been considered as a weakness in SoS, but inconsistent evidence asks for a further assessment of academic skills.

This single-cohort, cross-sectional study enrolled 28 participants with SoS aged 5-18 years, who underwent a comprehensive neuropsychological assessment. Moreover, a school-age subgroup was administered with standardised tests assessing academic skills.

The neuropsychological profile was characterised by lowest scores in both language and visuospatial abilities and highest scores in memory for faces. Greatest difficulties were observed in rapid verbal production, visuospatial memory and graphomotor control. Neither attention and executive functions nor social perception skills were relative weaknesses or strengths of the profile. An exploratory analysis revealed that the comorbidity with autism spectrum disorder and/or attention-deficit/hyperactivity disorder did not result in a different neuropsychological profile. A large part of the sample had poor mathematics skills, and only one participant did not display any difficulties in mathematics.

This study extends the previous characterisation of the SoS cognitive profile and documents a prevalent difficulty in mathematics skills. Notably, social perception does not emerge as selectively impaired in SoS. The results have important implications for tailoring rehabilitative interventions, school adjustment and daily living of children and adolescents with SoS.