title: Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.
abstract: OBJECTIVE
  Chromosome 22q11.2 deletion syndrome (22q11DS) confers 25% risk for psychosis and is an invaluable window for understanding the neurobiological substrate of psychosis risk. The Structured Interview for Prodromal Syndromes (SIPS) is well validated in nondeleted populations for detecting clinical risk but has only recently been applied to 22q11DS. We assessed the largest 22q11DS cohort to date and report on SIPS implementation and symptoms elicited.
  
  
  METHODS
  The SIPS, including its 19 subscales, was administered to 157 individuals with 22q11DS aged 8 to 25 years. Youth and caregiver interviews were conducted and rated separately, then compared for agreement. Implementation of the SIPS in 22q11DS was challenging because of the prevalence of developmental delay and comorbid conditions. However, by explaining questions and eliciting examples, we were able to help youths and caregivers understand and respond appropriately. Consensus ratings were formulated and analyzed with itemwise and factor analysis.
  
  
  RESULTS
  Subthreshold symptoms were common, with 85% of individuals endorsing 1 or more. The most commonly rated items were ideational richness (47%) and trouble with focus and attention (44%). Factor analysis revealed a 3-factor solution with positive, negative, and disorganized components. Youth-caregiver comparisons suggested that youths report greater symptoms of perceptual abnormalities, suspiciousness, trouble with emotional expression, and bizarre thinking. Caregivers reported more impaired tolerance to normal stress, poor hygiene, and inattention.
  
  
  CONCLUSIONS
  The SIPS was adapted for 22q11DS through comprehensive and semi-structured administration methods, yielding a high prevalence of subthreshold psychotic symptoms. The significance and predictive validity of these symptoms require future longitudinal analysis.
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Sunny X
authors.initials: SX
authors.lastname: Tang
authors.affiliation: Perelman School of Medicine and the Children's Hospital of Philadelphia.
authors.forename: James J
authors.initials: JJ
authors.lastname: Yi
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Tyler M
authors.initials: TM
authors.lastname: Moore
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Monica E
authors.initials: ME
authors.lastname: Calkins
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Christian G
authors.initials: CG
authors.lastname: Kohler
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Daneen A
authors.initials: DA
authors.lastname: Whinna
authors.affiliation: Children's Hospital of Philadelphia, Division of Human Genetics.
authors.forename: Margaret C
authors.initials: MC
authors.lastname: Souders
authors.affiliation: Perelman School of Medicine and the Children's Hospital of Philadelphia.
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.affiliation: Perelman School of Medicine and the Children's Hospital of Philadelphia.
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.affiliation: Perelman School of Medicine and the Children's Hospital of Philadelphia.
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Warren B
authors.initials: WB
authors.lastname: Bilker
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Ruben C
authors.initials: RC
authors.lastname: Gur
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address: Raquel@upenn.edu.
authors.forename: Raquel E
authors.initials: RE
authors.lastname: Gur
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D062706:Prodromal Symptoms; D011569:Psychiatric Status Rating Scales; D011618:Psychotic Disorders / Q000175:diagnosis* / Q000209:etiology; D055815:Young Adult
keywords: 22q11.2 deletion syndrome; Structured Interview for Prodromal Syndromes; prodromal; psychosis; schizophrenia