Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.

Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop a psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown psychotic episode is usually preceded by subthreshold symptoms. In the current study, 760 participants (aged 6-55 years) with a confirmed hemizygous 22q11.2 microdeletion have been recruited through 10 medical sites worldwide, as part of an international research consortium. Of them, 692 were nonpsychotic and with complete measurement data. Subthreshold psychotic symptoms were assessed using the Structured Interview for Prodromal Syndromes (SIPS). Nearly one-third of participants met criteria for positive subthreshold psychotic symptoms (32.8%), less than 1% qualified for acute positive subthreshold symptoms, and almost a quarter met criteria for negative/disorganized subthreshold symptoms (21.7%). Adolescents and young adults (13-25 years) showed the highest rates of subthreshold psychotic symptoms. Additionally, higher rates of anxiety disorders and attention deficit/hyperactivity disorder (ADHD) were found among the study participants with subthreshold psychotic symptoms compared to those without. Full-scale IQ, verbal IQ, and global functioning (GAF) scores were negatively associated with participants' subthreshold psychotic symptoms. This study represents the most comprehensive analysis reported to date on subthreshold psychosis in 22q11.2DS. Novel findings include age-related changes in subthreshold psychotic symptoms and evidence that cognitive deficits are associated with subthreshold psychosis in this population. Future studies should longitudinally follow these symptoms to detect whether and how early identification and treatment of these manifestations can improve long-term outcomes in those that eventually develop a psychotic disorder.

Weisman O ，Guri Y ，Gur RE ，McDonald-McGinn DM ，Calkins ME ，Tang SX ，Emanuel B ，Zackai EH ，Eliez S ，Schneider M ，Schaer M ，Kates WR ，Antshel KM ，Fremont W ，Shashi V ，Hooper SR ，Armando M ，Vicari S ，Pontillo M ，Kushan L ，Jalbrzikowski M ，Bearden CE ，Cubells JF ，Ousley OY ，Walker EF ，Simon TJ ，Stoddard J ，Niendam TA ，van den Bree MBM ，Gothelf D ，International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome ... -  《-》

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34-11.34) or IDD (OR=5.05, 95% CI=3.01-10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms.

Mekori-Domachevsky E ，Guri Y ，Yi J ，Weisman O ，Calkins ME ，Tang SX ，Gross R ，McDonald-McGinn DM ，Emanuel BS ，Zackai EH ，Zalsman G ，Weizman A ，Gur RC ，Gur RE ，Gothelf D ... -  《-》

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

Niarchou M ，Calkins ME ，Moore TM ，Tang SX ，McDonald-McGinn DM ，Zackai EH ，Emanuel BS ，Gur RC ，Gur RE ... -  《-》

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.

Moore TM ，Salzer D ，Bearden CE ，Calkins ME ，Kates WR ，Kushan L ，Gallagher RS ，Frumer DS ，Weinberger R ，McDonald-McGinn DM ，Gur RE ，Gothelf D ... -  《-》

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.

Tang SX ，Yi JJ ，Calkins ME ，Whinna DA ，Kohler CG ，Souders MC ，McDonald-McGinn DM ，Zackai EH ，Emanuel BS ，Gur RC ，Gur RE ... -  《-》