BACKGROUND: A genetic syndrome associated with schizophrenia, 22q11 deletion syndrome (22qDS), may represent a genetic subtype of schizophrenia (22qDS-Sz). Structural brain changes are common in schizophrenia and may involve developmental anomalies, but there are no data yet for 22qDS-Sz. The objective of this study was to assess brain structure in adults with 22qDS-Sz using magnetic resonance imaging (MRI). METHODS: Brain and arterial MRI scans of 11 adults with 22qDS-Sz (mean age = 28.4 years, SD = 6.5) were systematically assessed by a neuroradiologist for qualitative anomalies. RESULTS: A high frequency of abnormalities were found: T2 white matter bright foci (BF), 90%; developmental midline anomalies, 45%; cerebral atrophy or ventricular enlargement, 54%; mild cerebellar atrophy, 36%; skull base abnormalities, 55%; and minor vascular abnormalities, 36%. CONCLUSIONS: BF and skull base abnormalities, especially in association with neurodevelopmental midline abnormalities, may be distinguishing MRI features for a genetic subtype of schizophrenia involving a deletion on chromosome 22.
BACKGROUND: A genetic syndrome associated with schizophrenia, 22q11 deletion syndrome (22qDS), may represent a genetic subtype of schizophrenia (22qDS-Sz). Structural brain changes are common in schizophrenia and may involve developmental anomalies, but there are no data yet for 22qDS-Sz. The objective of this study was to assess brain structure in adults with 22qDS-Sz using magnetic resonance imaging (MRI). METHODS: Brain and arterial MRI scans of 11 adults with 22qDS-Sz (mean age = 28.4 years, SD = 6.5) were systematically assessed by a neuroradiologist for qualitative anomalies. RESULTS: A high frequency of abnormalities were found: T2 white matter bright foci (BF), 90%; developmental midline anomalies, 45%; cerebral atrophy or ventricular enlargement, 54%; mild cerebellar atrophy, 36%; skull base abnormalities, 55%; and minor vascular abnormalities, 36%. CONCLUSIONS: BF and skull base abnormalities, especially in association with neurodevelopmental midline abnormalities, may be distinguishing MRI features for a genetic subtype of schizophrenia involving a deletion on chromosome 22.
Authors: K MacKenzie-Stepner; M A Witzel; D A Stringer; W K Lindsay; I R Munro; H Hughes Journal: Plast Reconstr Surg Date: 1987-09 Impact factor: 4.730
Authors: C E Coffey; P E Hinkle; R D Weiner; C B Nemeroff; K R Krishnan; I Varia; D C Sullivan Journal: Biol Psychiatry Date: 1987-05 Impact factor: 13.382
Authors: Liam J Drew; Gregg W Crabtree; Sander Markx; Kimberly L Stark; Florence Chaverneff; Bin Xu; Jun Mukai; Karine Fenelon; Pei-Ken Hsu; Joseph A Gogos; Maria Karayiorgou Journal: Int J Dev Neurosci Date: 2010-10-08 Impact factor: 2.457
Authors: Andreas J Forstner; F B Basmanav; Manuel Mattheisen; Anne C Böhmer; Mads V Hollegaard; Esther Janson; Eric Strengman; Lutz Priebe; Franziska Degenhardt; Per Hoffmann; Stefan Herms; Wolfgang Maier; Rainald Mössner; Dan Rujescu; Roel A Ophoff; Susanne Moebus; Preben B Mortensen; Anders D Børglum; David M Hougaard; Josef Frank; Stephanie H Witt; Marcella Rietschel; Andreas Zimmer; Markus M Nöthen; Xavier Miró; Sven Cichon Journal: J Psychiatry Neurosci Date: 2014-11 Impact factor: 6.186
Authors: Vandana Shashi; Thomas R Kwapil; Jessica Kaczorowski; Margaret N Berry; Cesar S Santos; Timothy D Howard; Dhruman Goradia; Konasale Prasad; Diwadkar Vaibhav; Rajaprabhakaran Rajarethinam; Edward Spence; Matcheri S Keshavan Journal: Psychiatry Res Date: 2010-01-30 Impact factor: 3.222