Subthreshold psychosis in 22q11.2 deletion syndrome: Multisite naturalistic study

Omri Weisman, Yael Guri, Raquel E. Gur, Donna M. McDonald-McGinn, Monica E. Calkins, Sunny X. Tang, Beverly Emanuel, Elaine H. Zackai, Stephan Eliez, Maude Schneider, Marie Schaer, Wendy R. Kates, Kevin M. Antshel, Wanda Fremont, Vandana Shashi, Stephen R. Hooper, Marco Armando, Stefano Vicari, Maria Pontillo, Leila KushanMaria Jalbrzikowski, Carrie E. Bearden, Joseph F. Cubells, Opal Y. Ousley, Elaine F. Walker, Tony J. Simon, Joel Stoddard, Tara A. Niendam, Marianne B.M. Van Den Bree, Doron Gothelf

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


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 fullblown 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.

Original languageEnglish (US)
Pages (from-to)1079-1089
Number of pages11
JournalSchizophrenia Bulletin
Issue number5
StatePublished - Sep 1 2017


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

ASJC Scopus subject areas

  • Psychiatry and Mental health


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