title: Incidental radiologic findings in the 22q11.2 deletion syndrome.
abstract: OBJECTIVE
  The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions.
  
  
  METHODS
  Brain MR imaging from 58 individuals with 22q11.2 deletion syndrome was reviewed by board-certified radiologists by using standard clinical procedures. Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort.
  
  
  RESULTS
  The rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%). Both of these findings were associated with psychosis in 22q11.2 deletion syndrome.
  
  
  CONCLUSIONS
  Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.
authors.affiliation: From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: J E
authors.initials: JE
authors.lastname: Schmitt
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania Department of Psychiatry (J.J.Y.).
authors.forename: J J
authors.initials: JJ
authors.lastname: Yi
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: D R
authors.initials: DR
authors.lastname: Roalf
authors.affiliation: From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: L A
authors.initials: LA
authors.lastname: Loevner
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: K
authors.initials: K
authors.lastname: Ruparel
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: D
authors.initials: D
authors.lastname: Whinna
authors.affiliation: Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: M C
authors.initials: MC
authors.lastname: Souders
authors.affiliation: Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: E
authors.initials: E
authors.lastname: Yodh
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: S
authors.initials: S
authors.lastname: Vandekar
authors.affiliation: Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: R C
authors.initials: RC
authors.lastname: Gur
authors.affiliation: Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.affiliation: Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania raquel@mail.med.upenn.edu.
authors.forename: R E
authors.initials: RE
authors.lastname: Gur
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D004062:DiGeorge Syndrome / Q000473:pathology* / Q000523:psychology*; D005260:Female; D006801:Humans; D033162:Incidental Findings; D008297:Male; D015995:Prevalence; D011618:Psychotic Disorders / Q000235:genetics*; D066127:White Matter / Q000002:abnormalities*