Abstract

ObjectiveGenetic syndromes related to psychosis have become increasingly important for exploring the trajectory that leads to psychosis onset. A very significant opportunity for mapping earlier phases of the trajectory can be found in 22q11.2 deletion syndrome (22q11DS). Comparative studies have shown that schizophrenic disorder in 22q11DS largely resembles schizophrenia in the general population, but only few studies have investigated the features of prodromal symptoms in 22q11DS. The aim of the present study was to investigate differences and similarities between two samples: patients with 22q11DS clinically at risk for psychotic onset (UHR+22q11DS group) and patients at clinical high risk for psychotic onset (UHR group). MethodThe study was conducted on a sample of 30 individuals UHR+22q11DS and 81 individuals at UHR without 22q11DS. The two groups were compared on positive, negative and depressive symptoms, level of general functioning and IQ. ResultsThere was a significant group difference in negative symptoms, but no significant differences were found for positive, global and total symptoms. The UHR+22q11DS group showed a lower level of general functioning. The clinical profile of the UHR+22q11DS group was clearly more homogeneous. ConclusionsEven if the two UHR groups are comparable in terms of positive symptoms, the UHR+22q11DS have a specific clinical pattern characterized by higher negative symptoms, lower general functioning and an older age of onset of the UHR state. This finding may be of clinical value for the development of specific therapeutic intervention for UHR+22q11DS, and of theoretical value since the two groups may share only some underlying etiopathogenetic mechanisms.

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