An exploration of the experiences of children and young people with 22q11.2 Deletion Syndrome

Abstract

Background: 22q11.2 deletion syndrome is a complex and highly variable genetic syndrome characterised by multiple complex physical abnormalities and neurodevelopmental challenges affecting both social and educational outcomes for young people. Method: This study comprised a systematic review of the longitudinal literature relating to neurodevelopmental trajectories in children and young people with 22q11.2 deletion syndrome, and the impact of these trajectories on social and educational outcomes. Data was extracted from the included studies (N=9) and a quality appraisal and narrative analysis of key findings was produced. Results: The findings suggests that while cognitive and executive functioning abilities do not predict social outcomes in children and young people with 22q11.2 deletion syndrome, ADHD diagnosis may be predictive of social outcomes. In addition, both executive functioning and language abilities uniquely and independently predict educational outcomes in children and young people with 22q11.2 deletion syndrome. While executive functioning has been found to be predictive of school achievement in typically developing peers, current evidence indicates a stronger relationship between executive functioning and school achievement for children and young people with 22q11.2 deletion syndrome. Conclusion: Although equivocal, the evidence suggests that further investigation of different domains of neurodevelopment and their impact on social and educational outcomes would be valuable areas of enquiry. Limitations of the review and gaps in the existing research are discussed.

Date of Award	2024
Original language	English