22q11.2 Deletion Syndrome

Also known as VCFS, DiGeorge, Shprintzen syndrome

22q11.2 deletion syndrome is associated with medical problems such as cardiac and palatal anomalies, behavioural and mental health problems and intellectual disabilities. However, although the syndrome has been associated with more than 180 characteristics, there is a large inter-individual variability. While some individuals have a very severe phenotype, others are virtually non-impaired despite sharing a similar genetic deletion. 

While a large proportion of this variability almost certainly stems from a neurodevelopmental origin, there is an increasing awareness of the importance of environmental factors on the developmental outcomes of children with disabilities. In particular, family functioning has been found to be an important predictor of child developmental outcomes in other genetic disorders.

In the current project the primary aim is to investigate the links between risk and protective factors for psychological well-being and positive functioning of people with 22q11.2 deletion syndrome (22q11DS) using a life span approach.  In particular, we will investigate what the best predictors are for positive outcomes among individuals with 22q11DS using a biopsychosocial approach in a sequential mixed method design.

If you or a family member have 22q11.2 deletion syndrome and are interested in our research, please contact us to find out more.

Learn more at Findlab.net.au.

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