J E Schmitt1, J J Yi2, D R Roalf3, L A Loevner4, K Ruparel3, D Whinna3, M C Souders5, D M McDonald-McGinn6, E Yodh3, S Vandekar3, E H Zackai6, R C Gur3, B S Emanuel6, R E Gur7. 1. 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. 2. 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.). 3. 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. 4. From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania. 5. Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 6. 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. 7. 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.
Abstract
BACKGROUND AND PURPOSE: 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. MATERIALS AND 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.
BACKGROUND AND PURPOSE: 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. MATERIALS AND 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: Meike W Vernooij; M Arfan Ikram; Hervé L Tanghe; Arnaud J P E Vincent; Albert Hofman; Gabriel P Krestin; Wiro J Niessen; Monique M B Breteler; Aad van der Lugt Journal: N Engl J Med Date: 2007-11-01 Impact factor: 91.245
Authors: Carrie E Bearden; Theo G M van Erp; Rebecca A Dutton; Helen Tran; Lara Zimmermann; Daqiang Sun; Jennifer A Geaga; Tony J Simon; David C Glahn; Tyrone D Cannon; Beverly S Emanuel; Arthur W Toga; Paul M Thompson Journal: Cereb Cortex Date: 2006-10-20 Impact factor: 5.357
Authors: Linda E Campbell; Eileen Daly; Fiona Toal; Angela Stevens; Rayna Azuma; Marco Catani; Virginia Ng; Therese van Amelsvoort; Xavier Chitnis; William Cutter; Declan G M Murphy; Kieran C Murphy Journal: Brain Date: 2006-03-28 Impact factor: 13.501
Authors: Elliott A Beaton; Yufeng Qin; Vy Nguyen; Joel Johnson; Joseph D Pinter; Tony J Simon Journal: Psychiatry Res Date: 2010-01-13 Impact factor: 3.222
Authors: Zoe Morris; William N Whiteley; W T Longstreth; Frank Weber; Yi-Chung Lee; Yoshito Tsushima; Hannah Alphs; Susanne C Ladd; Charles Warlow; Joanna M Wardlaw; Rustam Al-Shahi Salman Journal: BMJ Date: 2009-08-17
Authors: Cynthia B Solot; Tyler M Moore; Terrence Blaine Crowley; Marsha Gerdes; Edward Moss; Daniel E McGinn; Beverly S Emanuel; Elaine H Zackai; Sean Gallagher; Monica E Calkins; Kosha Ruparel; Ruben C Gur; Donna M McDonald-McGinn; Raquel E Gur Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2020-07-27 Impact factor: 3.568
Authors: J Eric Schmitt; John J DeBevits; David R Roalf; Kosha Ruparel; R Sean Gallagher; Ruben C Gur; Aaron Alexander-Bloch; Tae-Yeon Eom; Shahinur Alam; Jeffrey Steinberg; Walter Akers; Khaled Khairy; T Blaine Crowley; Beverly Emanuel; Stanislav S Zakharenko; Donna M McDonald-McGinn; Raquel E Gur Journal: Biol Psychiatry Cogn Neurosci Neuroimaging Date: 2021-11-27
Authors: David R Roalf; J Eric Schmitt; Simon N Vandekar; Theodore D Satterthwaite; Russell T Shinohara; Kosha Ruparel; Mark A Elliott; Karthik Prabhakaran; Donna M McDonald-McGinn; Elaine H Zackai; Ruben C Gur; Beverly S Emanuel; Raquel E Gur Journal: Psychiatry Res Neuroimaging Date: 2017-08-24 Impact factor: 2.376
Authors: Julia A Scott; Naomi Goodrich-Hunsaker; Kristopher Kalish; Aaron Lee; Michael R Hunsaker; Cynthia M Schumann; Owen T Carmichael; Tony J Simon Journal: J Psychiatry Neurosci Date: 2016-04 Impact factor: 6.186
Authors: James J Yi; Ronnie Weinberger; Tyler M Moore; Monica E Calkins; Yael Guri; Donna M McDonald-McGinn; Elaine H Zackai; Beverly S Emanuel; Raquel E Gur; Doron Gothelf; Ruben C Gur Journal: Brain Cogn Date: 2016-05-17 Impact factor: 2.310
Authors: J Eric Schmitt; James Yi; Monica E Calkins; Kosha Ruparel; David R Roalf; Amy Cassidy; Margaret C Souders; Theodore D Satterthwaite; Donna M McDonald-McGinn; Elaine H Zackai; Ruben C Gur; Beverly S Emanuel; Raquel E Gur Journal: Neuroimage Clin Date: 2016-08-25 Impact factor: 4.881