title: Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome.
abstract: OBJECTIVE
  Schizophrenia occurs in 20-25% of adults with 22q11.2 deletion syndrome (22q11.2DS). General population studies of schizophrenia report associations with perinatal complications, although effect sizes are generally low. We aimed to determine whether such factors are associated with expression of schizophrenia in individuals with 22q11.2DS.
  
  
  METHODS
  We investigated the relationship of small for gestational age (SGA) birth weight (<3rd percentile for sex and gestational age) and prematurity (<37 weeks gestation) to expression of schizophrenia in a well-characterized cohort of 123 adults with 22q11.2DS. Outcome measures included adjusted odds ratios and positive and negative predictive values (PPV and NPV) for schizophrenia.
  
  
  RESULTS
  SGA birth weight (OR = 3.52, 95% CI = 1.34-9.22) and prematurity (OR = 5.38, 95% CI = 1.63-17.75), but not maternal factors, were significant risk factors for schizophrenia in 22q11.2DS. Being born SGA or premature resulted in a PPV of 46% for schizophrenia; NPV in the absence of both features was 83%. Post hoc analyses suggested these perinatal complications were also associated with factors indicative of increased severity of schizophrenia.
  
  
  CONCLUSIONS
  In 22q11.2DS, fetal growth and gestation may have a clinically significant impact on future risk for schizophrenia. These data advance our understanding of determinants of disease-specific expression in 22q11.2DS, with implications for other genomic disorders.Genet Med 18 4, 350-355.
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.|Undergraduate Medical Education, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Lily
authors.initials: L
authors.lastname: Van
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.|Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Nancy J
authors.identifier: http://orcid.org/0000-0002-5152-0108
authors.initials: NJ
authors.lastname: Butcher
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.|Undergraduate Medical Education, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Gregory
authors.identifier: http://orcid.org/0000-0003-0099-9945
authors.initials: G
authors.lastname: Costain
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
authors.forename: Lucas
authors.identifier: http://orcid.org/0000-0002-3881-7636
authors.initials: L
authors.lastname: Ogura
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.|Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Eva W C
authors.initials: EW
authors.lastname: Chow
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.|Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.|Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.|Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.|Department of Psychiatry, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada.|Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.|The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada.
authors.forename: Anne S
authors.identifier: http://orcid.org/0000-0003-0099-9945
authors.initials: AS
authors.lastname: Bassett
mesh_terms: D000328:Adult; D001724:Birth Weight; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D047109:Fetal Development; D005317:Fetal Growth Retardation; D005865:Gestational Age; D006801:Humans; D008297:Male; D010641:Phenotype; D011379:Prognosis; D012307:Risk Factors; D012559:Schizophrenia / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology*; D012720:Severity of Illness Index; D055815:Young Adult