Abstract
22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that causes a high risk of developing schizophrenia, thus representing a unique model for the investigation of biomarkers of psychosis. Cognitive and clinical risk factors have been identified as reliable predictors of schizophrenia in patients with 22q11DS and are currently used in the clinical practice. However, biomarkers based on neuroimaging are still lacking, mainly because of the analytic approaches adopted so far, which are almost uniquely based on the comparison of 22q11DS patients with healthy controls. Such comparisons do not take into account the heterogeneity within patients with 22q11DS, who indeed show various clinical manifestations. More recently, a number of studies compared measures of brain morphology and connectivity between patients with 22q11DS with different symptomatic profiles. The aim of this short review is to highlight the brain alterations found in patients with 22q11DS fulfilling ultra-high risk (UHR) criteria. Findings point to alterations in brain morphology and connectivity in frontal brain regions, and in particular in the anterior cingulate cortex, in patients with 22q11DS presenting UHR symptoms. These alterations may represent valuable biomarkers of psychosis in 22q11DS.
Highlights
22q11.2 deletion syndrome (22q11DS) is considered the third most important risk factor for the development of schizophrenia after having a monozygotic twin (50%) or two affected parents (42%) [1, 2] 30–40% of patients with 22q11DS develop psychosis by adulthood [2, 3]
In a study pulling together data from two cohorts of patients with 22q11DS (Geneva and Tel Aviv) [7] we found that the presence of anxiety disorders and a lower baseline IQ predicted the development of schizophrenia
Another cross-site study conducted by the International Consortium on Brain and Behavior in 22q11 Deletion Syndrome (IBBC) included 829 22q11DS patients and showed that individuals with 22q11DS that develop psychosis have a steeper decline in verbal IQ (VIQ) from childhood to adulthood than controls and non-psychotic patients [11]
Summary
22q11.2 deletion syndrome (22q11DS) is considered the third most important risk factor for the development of schizophrenia after having a monozygotic twin (50%) or two affected parents (42%) [1, 2] 30–40% of patients with 22q11DS develop psychosis by adulthood [2, 3]. Despite the great number of studies showing alterations in brain morphology and connectivity in patients with 22q11DS compared to controls, there are still no valid biomarkers of psychosis based on neuroimaging. Fewer studies investigated brain morphology and connectivity in 22q11DS patients with high psychotic symptoms compared to less symptomatic patients [14,15,16,17,18,19,20,21].
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