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Schizophrenia (SCZD) or schizoaffective disorders are quite common features in patientswith DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of chromosome 22q11.2 aploinsufficiency. We evaluated the Nogo-66 receptor gene (RTN4R), which maps within the DGS/VCFS critical region, as a potential candidate for schizophrenia susceptibility. RTN4R encodes for a functional cell surface receptor, a glycosylphosphatidylinositol (GPI)-linked protein, with multiple leucine-rich repeats (LRR), which is implicated in axonal growth inhibition. One hundred and twenty unrelated Italian schizophrenic patients were screened for mutations in the RTN4R gene using denaturing high performance liquid chromatography (DHPLC). Three mutant alleles were detected, including two missense changes (c.355C>T; R119W and c.587G>A; R196H), and one synonymous codon variant (c.54G>A; L18L). The two schizophrenic patients with the missense changes were strongly resistant to the neuroleptic treatment at any dosage. Both missense changes were absent in 300 control subjects. Molecular modeling revealed that both changes lead to putative structural alterations of the native protein.

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The aim of this study was to evaluate the efficiency and interactions of attentional systems in children with Attention Deficit Hyperactivity Disorder (ADHD) by considering the effects of reinforcement and auditory warning on each component of attention. Thirty-six drug-naïve children (18 children with ADHD/18 typically developing children) performed two revised versions of the Attentional Network Test, which assess the efficiency of alerting, orienting, and executive systems. In feedback trials, children received feedback about their accuracy, whereas in the no-feedback trials, feedback was not given. In both conditions, children with ADHD performed more slowly than did typically developing children. They also showed impairments in the ability to disengage attention and in executive functioning, which improved when alertness was increased by administering the auditory warning. The performance of the attentional networks appeared to be modulated by the absence or the presence of reinforcement. We suggest that the observed executive system deficit in children with ADHD could depend on their low level of arousal rather than being an independent disorder.