Neurodevelopment and Psychosis in the 22q11.2 Deletion Syndrome

Neurodevelopment and Psychosis in the 22q11.2 Deletion Syndrome
https://www.kcl.ac.uk/iop/depts/fans/research/current.aspx

Neurodevelopment and Psychosis in the 22q11.2 Deletion Syndrome

Brain, behaviour and genetics in 22q11DS

Individuals with 22q11.2 deletion syndrome (22q11DS) (previously known as velocardiofacial syndrome (VCFS), Shprintzen syndrome or DiGeorge syndrome) are vulnerable to a range of physical and mental health difficulties. 22q11DS is a genetic disorder that occurs because of a deletion, or a missing piece, at chromosome 22. In addition to physical difficulties, including heart, palate and immune function, people with 22q11DS have significantly increased rates of psychiatric and behavioural difficulties, including autism spectrum disorder (ASD),episodes of psychosis and learning difficulties. However, despite an increased vulnerability to psychiatric difficulties, the cause of these behaviours are poorly understood and it can be particularly difficult for people with 22q11DS to access mental health services.

Brain imaging studies of people with 22q11DS are limited, but available studies show differences in brain structure and function. However, most brain imaging studies of people with 22q11DS included small samples of people whose psychiatric diagnoses were not clearly identified. As such, the neural basis of 22q11DS is poorly understood and studies including larger samples of people with clear psychiatric assessments are required. The aim of this project is establish a multicentre network with the University of California, Los Angeles (UCLA) and Cardiff University. We aim to investigate the anatomy, function and connectivity of brain systems that may contribute towards psychosis and ASD in people with 22q11DS using structural and resting­state functional magnetic resonance imaging (sMRI and rs­fMRI) and diffusion tensor imaging (DTI) and to identify brain, behavioural and genetic risk factors for the emergence of ASD and psychotic symptoms in children and adults with 22q11DS.

related: 22q11.2 deletion syndrome

http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

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