Short report: Behavioural characterisation of SOX11 syndrome.

SOX11 syndrome is a rare condition caused by deletions or de novo point mutations of the SOX11 gene. SOX11 is a transcription factor gene that plays an important role in brain development. The aim of this study was to quantitatively evaluate the behavioural profiles of individuals with SOX11 syndrome. The Vineland Adaptive Behaviour Scales 3 (VABS-3) and the Social Responsiveness Scale 2 (SRS-2) were completed by parents of 21 children and young adults with SOX11 syndrome. Most were found to have borderline (33 %) or mild (39 %) impairment in adaptive behaviour, with more difficulties in communication and daily living than socialisation in the cohort overall. Most (90 %) were found to exhibit clinically relevant levels of autistic traits, with 62 % scoring in the "severe" range, though social motivation was observed to be a relative strength in the cohort overall. This study presents the first standardised evaluation of adaptive behaviour and autistic traits of individuals with SOX11 syndrome. This will improve clinicians, educators and parents' understanding of SOX11 syndrome. • This study reports the first evaluation of adaptive behaviour and autistic traits of individuals with SOX11 syndrome. • Most individuals with SOX11 have borderline or mild impairment in adaptive behaviour. • Most individuals with SOX11 have clinically relevant levels of autistic traits. • Social motivation is a relative strength in SOX11 syndrome. [ABSTRACT FROM AUTHOR]