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Schizophr Bull. 2017 Sep 1;43(5):1079-1089. doi: 10.1093/schbul/sbx005.

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

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The Behavioral Neurogenetics Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Sackler Faculty of Medicine and the Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Neuropsychiatry, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Department of Child & Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Developmental Imaging and Psychopathology Lab, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Department of Psychiatry and Behavioral Sciences, State University of New York at Upstate Medical University, Syracuse, NY.
Department of Psychology, Syracuse University, Syracuse, NY.
Department of Pediatrics, Duke University Medical Center, Durham, NC.
Department of Allied Health, University of North Carolina at Chapel Hill, Chapel Hill NC.
Child and Adolescence Neuropsychiatry Unit, Department of Neuroscience, Children Hospital Bambino Gesu, Rome, Italy.
Department of Psychiatry and Behavioral Sciences and Psychology, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA.
Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA.
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine Atlanta, GA.
Department of Psychology, Emory University, Atlanta, GA.
Department of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, CA.
MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.


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.


DiGeorge syndrome; IQ; anxiety disorder; attention deficit/hyperactivity disorder (ADHD); global assessment of functioning (GAF); structured interview for prodromal syndromes; subthreshold psychotic symptoms; velocardiofacial syndrome

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