%0 Journal Article
%T Short report: Behavioural characterisation of SOX11 syndrome.
%A Al-Jawahiri R
%A Stokes L
%A Smith H
%A McNeill A
%A Freeth M
%J Res Dev Disabil
%V 143
%N 0
%D 2023 Dec 2
%M 37924570
%F 3
%R 10.1016/j.ridd.2023.104623
%X <B>BACKGROUND: </B>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.<BR><B>OBJECTIVE: </B>The aim of this study was to quantitatively evaluate the behavioural profiles of individuals with SOX11 syndrome.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.