Literature DB >> 32046535

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Christopher R K Ching1, Boris A Gutman1, Daqiang Sun1, Julio Villalon Reina1, Anjanibhargavi Ragothaman1, Dmitry Isaev1, Artemis Zavaliangos-Petropulu1, Amy Lin1, Rachel K Jonas1, Leila Kushan1, Laura Pacheco-Hansen1, Ariana Vajdi1, Jennifer K Forsyth1, Maria Jalbrzikowski1, Geor Bakker1, Therese van Amelsvoort1, Kevin M Antshel1, Wanda Fremont1, Wendy R Kates1, Linda E Campbell1, Kathryn L McCabe1, Michael C Craig1, Eileen Daly1, Maria Gudbrandsen1, Clodagh M Murphy1, Declan G Murphy1, Kieran C Murphy1, Ania Fiksinski1, Sanne Koops1, Jacob Vorstman1, T Blaine Crowley1, Beverly S Emanuel1, Raquel E Gur1, Donna M McDonald-McGinn1, David R Roalf1, Kosha Ruparel1, J Eric Schmitt1, Elaine H Zackai1, Courtney A Durdle1, Naomi J Goodrich-Hunsaker1, Tony J Simon1, Anne S Bassett1, Nancy J Butcher1, Eva W C Chow1, Fidel Vila-Rodriguez1, Adam Cunningham1, Joanne Doherty1, David E Linden1, Hayley Moss1, Michael J Owen1, Marianne van den Bree1, Nicolas A Crossley1, Gabriela M Repetto1, Paul M Thompson1, Carrie E Bearden1.   

Abstract

OBJECTIVE: 22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.
METHODS: Subcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female).
RESULTS: Compared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder.
CONCLUSIONS: In the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

Entities:  

Keywords:  22q11.2 Deletion Syndrome; Copy Number Variant; Neuroanatomy; Neurodevelopment; Psychosis; Schizophrenia

Mesh:

Year:  2020        PMID: 32046535      PMCID: PMC7419015          DOI: 10.1176/appi.ajp.2019.19060583

Source DB:  PubMed          Journal:  Am J Psychiatry        ISSN: 0002-953X            Impact factor:   18.112


  37 in total

Review 1.  The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.

Authors:  Rachel K Jonas; Caroline A Montojo; Carrie E Bearden
Journal:  Biol Psychiatry       Date:  2013-08-28       Impact factor: 13.382

2.  Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.

Authors:  Torfi Sigurdsson; Kimberly L Stark; Maria Karayiorgou; Joseph A Gogos; Joshua A Gordon
Journal:  Nature       Date:  2010-04-01       Impact factor: 49.962

3.  FGF8 acts as a classic diffusible morphogen to pattern the neocortex.

Authors:  Reiko Toyoda; Stavroula Assimacopoulos; Jennifer Wilcoxon; Albert Taylor; Polina Feldman; Asuka Suzuki-Hirano; Tomomi Shimogori; Elizabeth A Grove
Journal:  Development       Date:  2010-09-15       Impact factor: 6.868

4.  Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2).

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Journal:  J Child Neurol       Date:  2004-05       Impact factor: 1.987

5.  Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.

Authors:  Carrie E Bearden; Theo G M van Erp; Rebecca A Dutton; Agatha D Lee; Tony J Simon; Tyrone D Cannon; Beverly S Emanuel; Donna McDonald-McGinn; Elaine H Zackai; Paul M Thompson
Journal:  Cereb Cortex       Date:  2008-05-14       Impact factor: 5.357

Review 6.  Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.

Authors:  N Hiroi; T Takahashi; A Hishimoto; T Izumi; S Boku; T Hiramoto
Journal:  Mol Psychiatry       Date:  2013-08-06       Impact factor: 15.992

7.  Subcortical brain volume differences in participants with attention deficit hyperactivity disorder in children and adults: a cross-sectional mega-analysis.

Authors:  Martine Hoogman; Janita Bralten; Derrek P Hibar; Maarten Mennes; Marcel P Zwiers; Lizanne S J Schweren; Kimm J E van Hulzen; Sarah E Medland; Elena Shumskaya; Neda Jahanshad; Patrick de Zeeuw; Eszter Szekely; Gustavo Sudre; Thomas Wolfers; Alberdingk M H Onnink; Janneke T Dammers; Jeanette C Mostert; Yolanda Vives-Gilabert; Gregor Kohls; Eileen Oberwelland; Jochen Seitz; Martin Schulte-Rüther; Sara Ambrosino; Alysa E Doyle; Marie F Høvik; Margaretha Dramsdahl; Leanne Tamm; Theo G M van Erp; Anders Dale; Andrew Schork; Annette Conzelmann; Kathrin Zierhut; Ramona Baur; Hazel McCarthy; Yuliya N Yoncheva; Ana Cubillo; Kaylita Chantiluke; Mitul A Mehta; Yannis Paloyelis; Sarah Hohmann; Sarah Baumeister; Ivanei Bramati; Paulo Mattos; Fernanda Tovar-Moll; Pamela Douglas; Tobias Banaschewski; Daniel Brandeis; Jonna Kuntsi; Philip Asherson; Katya Rubia; Clare Kelly; Adriana Di Martino; Michael P Milham; Francisco X Castellanos; Thomas Frodl; Mariam Zentis; Klaus-Peter Lesch; Andreas Reif; Paul Pauli; Terry L Jernigan; Jan Haavik; Kerstin J Plessen; Astri J Lundervold; Kenneth Hugdahl; Larry J Seidman; Joseph Biederman; Nanda Rommelse; Dirk J Heslenfeld; Catharina A Hartman; Pieter J Hoekstra; Jaap Oosterlaan; Georg von Polier; Kerstin Konrad; Oscar Vilarroya; Josep Antoni Ramos-Quiroga; Joan Carles Soliva; Sarah Durston; Jan K Buitelaar; Stephen V Faraone; Philip Shaw; Paul M Thompson; Barbara Franke
Journal:  Lancet Psychiatry       Date:  2017-02-16       Impact factor: 27.083

8.  Subcortical brain alterations in major depressive disorder: findings from the ENIGMA Major Depressive Disorder working group.

Authors:  L Schmaal; D J Veltman; T G M van Erp; P G Sämann; T Frodl; N Jahanshad; E Loehrer; H Tiemeier; A Hofman; W J Niessen; M W Vernooij; M A Ikram; K Wittfeld; H J Grabe; A Block; K Hegenscheid; H Völzke; D Hoehn; M Czisch; J Lagopoulos; S N Hatton; I B Hickie; R Goya-Maldonado; B Krämer; O Gruber; B Couvy-Duchesne; M E Rentería; L T Strike; N T Mills; G I de Zubicaray; K L McMahon; S E Medland; N G Martin; N A Gillespie; M J Wright; G B Hall; G M MacQueen; E M Frey; A Carballedo; L S van Velzen; M J van Tol; N J van der Wee; I M Veer; H Walter; K Schnell; E Schramm; C Normann; D Schoepf; C Konrad; B Zurowski; T Nickson; A M McIntosh; M Papmeyer; H C Whalley; J E Sussmann; B R Godlewska; P J Cowen; F H Fischer; M Rose; B W J H Penninx; P M Thompson; D P Hibar
Journal:  Mol Psychiatry       Date:  2015-06-30       Impact factor: 15.992

9.  An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

Authors:  Deborah U Frank; Lori K Fotheringham; Judson A Brewer; Louis J Muglia; Martin Tristani-Firouzi; Mario R Capecchi; Anne M Moon
Journal:  Development       Date:  2002-10       Impact factor: 6.868

10.  Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:  S Hong Lee; Stephan Ripke; Benjamin M Neale; Stephen V Faraone; Shaun M Purcell; Roy H Perlis; Bryan J Mowry; Anita Thapar; Michael E Goddard; John S Witte; Devin Absher; Ingrid Agartz; Huda Akil; Farooq Amin; Ole A Andreassen; Adebayo Anjorin; Richard Anney; Verneri Anttila; Dan E Arking; Philip Asherson; Maria H Azevedo; Lena Backlund; Judith A Badner; Anthony J Bailey; Tobias Banaschewski; Jack D Barchas; Michael R Barnes; Thomas B Barrett; Nicholas Bass; Agatino Battaglia; Michael Bauer; Mònica Bayés; Frank Bellivier; Sarah E Bergen; Wade Berrettini; Catalina Betancur; Thomas Bettecken; Joseph Biederman; Elisabeth B Binder; Donald W Black; Douglas H R Blackwood; Cinnamon S Bloss; Michael Boehnke; Dorret I Boomsma; Gerome Breen; René Breuer; Richard Bruggeman; Paul Cormican; Nancy G Buccola; Jan K Buitelaar; William E Bunney; Joseph D Buxbaum; William F Byerley; Enda M Byrne; Sian Caesar; Wiepke Cahn; Rita M Cantor; Miguel Casas; Aravinda Chakravarti; Kimberly Chambert; Khalid Choudhury; Sven Cichon; C Robert Cloninger; David A Collier; Edwin H Cook; Hilary Coon; Bru Cormand; Aiden Corvin; William H Coryell; David W Craig; Ian W Craig; Jennifer Crosbie; Michael L Cuccaro; David Curtis; Darina Czamara; Susmita Datta; Geraldine Dawson; Richard Day; Eco J De Geus; Franziska Degenhardt; Srdjan Djurovic; Gary J Donohoe; Alysa E Doyle; Jubao Duan; Frank Dudbridge; Eftichia Duketis; Richard P Ebstein; Howard J Edenberg; Josephine Elia; Sean Ennis; Bruno Etain; Ayman Fanous; Anne E Farmer; I Nicol Ferrier; Matthew Flickinger; Eric Fombonne; Tatiana Foroud; Josef Frank; Barbara Franke; Christine Fraser; Robert Freedman; Nelson B Freimer; Christine M Freitag; Marion Friedl; Louise Frisén; Louise Gallagher; Pablo V Gejman; Lyudmila Georgieva; Elliot S Gershon; Daniel H Geschwind; Ina Giegling; Michael Gill; Scott D Gordon; Katherine Gordon-Smith; Elaine K Green; Tiffany A Greenwood; Dorothy E Grice; Magdalena Gross; Detelina Grozeva; Weihua Guan; Hugh Gurling; Lieuwe De Haan; Jonathan L Haines; Hakon Hakonarson; Joachim Hallmayer; Steven P Hamilton; Marian L Hamshere; Thomas F Hansen; Annette M Hartmann; Martin Hautzinger; Andrew C Heath; Anjali K Henders; Stefan Herms; Ian B Hickie; Maria Hipolito; Susanne Hoefels; Peter A Holmans; Florian Holsboer; Witte J Hoogendijk; Jouke-Jan Hottenga; Christina M Hultman; Vanessa Hus; Andrés Ingason; Marcus Ising; Stéphane Jamain; Edward G Jones; Ian Jones; Lisa Jones; Jung-Ying Tzeng; Anna K Kähler; René S Kahn; Radhika Kandaswamy; Matthew C Keller; James L Kennedy; Elaine Kenny; Lindsey Kent; Yunjung Kim; George K Kirov; Sabine M Klauck; Lambertus Klei; James A Knowles; Martin A Kohli; Daniel L Koller; Bettina Konte; Ania Korszun; Lydia Krabbendam; Robert Krasucki; Jonna Kuntsi; Phoenix Kwan; Mikael Landén; Niklas Långström; Mark Lathrop; Jacob Lawrence; William B Lawson; Marion Leboyer; David H Ledbetter; Phil H Lee; Todd Lencz; Klaus-Peter Lesch; Douglas F Levinson; Cathryn M Lewis; Jun Li; Paul Lichtenstein; Jeffrey A Lieberman; Dan-Yu Lin; Don H Linszen; Chunyu Liu; Falk W Lohoff; Sandra K Loo; Catherine Lord; Jennifer K Lowe; Susanne Lucae; Donald J MacIntyre; Pamela A F Madden; Elena Maestrini; Patrik K E Magnusson; Pamela B Mahon; Wolfgang Maier; Anil K Malhotra; Shrikant M Mane; Christa L Martin; Nicholas G Martin; Manuel Mattheisen; Keith Matthews; Morten Mattingsdal; Steven A McCarroll; Kevin A McGhee; James J McGough; Patrick J McGrath; Peter McGuffin; Melvin G McInnis; Andrew McIntosh; Rebecca McKinney; Alan W McLean; Francis J McMahon; William M McMahon; Andrew McQuillin; Helena Medeiros; Sarah E Medland; Sandra Meier; Ingrid Melle; Fan Meng; Jobst Meyer; Christel M Middeldorp; Lefkos Middleton; Vihra Milanova; Ana Miranda; Anthony P Monaco; Grant W Montgomery; Jennifer L Moran; Daniel Moreno-De-Luca; Gunnar Morken; Derek W Morris; Eric M Morrow; Valentina Moskvina; Pierandrea Muglia; Thomas W Mühleisen; Walter J Muir; Bertram Müller-Myhsok; Michael Murtha; Richard M Myers; Inez Myin-Germeys; Michael C Neale; Stan F Nelson; Caroline M Nievergelt; Ivan Nikolov; Vishwajit Nimgaonkar; Willem A Nolen; Markus M Nöthen; John I Nurnberger; Evaristus A Nwulia; Dale R Nyholt; Colm O'Dushlaine; Robert D Oades; Ann Olincy; Guiomar Oliveira; Line Olsen; Roel A Ophoff; Urban Osby; Michael J Owen; Aarno Palotie; Jeremy R Parr; Andrew D Paterson; Carlos N Pato; Michele T Pato; Brenda W Penninx; Michele L Pergadia; Margaret A Pericak-Vance; Benjamin S Pickard; Jonathan Pimm; Joseph Piven; Danielle Posthuma; James B Potash; Fritz Poustka; Peter Propping; Vinay Puri; Digby J Quested; Emma M Quinn; Josep Antoni Ramos-Quiroga; Henrik B Rasmussen; Soumya Raychaudhuri; Karola Rehnström; Andreas Reif; Marta Ribasés; John P Rice; Marcella Rietschel; Kathryn Roeder; Herbert Roeyers; Lizzy Rossin; Aribert Rothenberger; Guy Rouleau; Douglas Ruderfer; Dan Rujescu; Alan R Sanders; Stephan J Sanders; Susan L Santangelo; Joseph A Sergeant; Russell Schachar; Martin Schalling; Alan F Schatzberg; William A Scheftner; Gerard D Schellenberg; Stephen W Scherer; Nicholas J Schork; Thomas G Schulze; Johannes Schumacher; Markus Schwarz; Edward Scolnick; Laura J Scott; Jianxin Shi; Paul D Shilling; Stanley I Shyn; Jeremy M Silverman; Susan L Slager; Susan L Smalley; Johannes H Smit; Erin N Smith; Edmund J S Sonuga-Barke; David St Clair; Matthew State; Michael Steffens; Hans-Christoph Steinhausen; John S Strauss; Jana Strohmaier; T Scott Stroup; James S Sutcliffe; Peter Szatmari; Szabocls Szelinger; Srinivasa Thirumalai; Robert C Thompson; Alexandre A Todorov; Federica Tozzi; Jens Treutlein; Manfred Uhr; Edwin J C G van den Oord; Gerard Van Grootheest; Jim Van Os; Astrid M Vicente; Veronica J Vieland; John B Vincent; Peter M Visscher; Christopher A Walsh; Thomas H Wassink; Stanley J Watson; Myrna M Weissman; Thomas Werge; Thomas F Wienker; Ellen M Wijsman; Gonneke Willemsen; Nigel Williams; A Jeremy Willsey; Stephanie H Witt; Wei Xu; Allan H Young; Timothy W Yu; Stanley Zammit; Peter P Zandi; Peng Zhang; Frans G Zitman; Sebastian Zöllner; Bernie Devlin; John R Kelsoe; Pamela Sklar; Mark J Daly; Michael C O'Donovan; Nicholas Craddock; Patrick F Sullivan; Jordan W Smoller; Kenneth S Kendler; Naomi R Wray
Journal:  Nat Genet       Date:  2013-08-11       Impact factor: 38.330

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  20 in total

1.  Abnormalities in white matter tracts in the fronto-striatal-thalamic circuit are associated with verbal performance in 22q11.2DS.

Authors:  Carina Heller; Saskia Steinmann; James J Levitt; Nikos Makris; Kevin M Antshel; Wanda Fremont; Ioana L Coman; Stefan R Schweinberger; Thomas Weiß; Sylvain Bouix; Marek R Kubicki; Wendy R Kates; Zora Kikinis
Journal:  Schizophr Res       Date:  2020-10-23       Impact factor: 4.939

2.  Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome.

Authors:  Ángeles Tepper; Analía Cuiza; Luz María Alliende; Carlos Mena; Juan Pablo Ramirez-Mahaluf; Barbara Iruretagoyena; Claudia Ornstein; Rosemarie Fritsch; Ruben Nachar; Alfonso González-Valderrama; Juan Undurraga; Juan Pablo Cruz; Cristian Tejos; Alex Fornito; Gabriela Repetto; Nicolas Crossley
Journal:  Schizophr Bull       Date:  2022-03-01       Impact factor: 9.306

3.  Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome.

Authors:  Maris Alver; Valentina Mancini; Kristi Läll; Maude Schneider; Luciana Romano; Reedik Mägi; Emmanouil T Dermitzakis; Stephan Eliez; Alexandre Reymond
Journal:  Mol Psychiatry       Date:  2022-06-29       Impact factor: 13.437

Review 4.  Pleiotropy and Cross-Disorder Genetics Among Psychiatric Disorders.

Authors:  Phil H Lee; Yen-Chen A Feng; Jordan W Smoller
Journal:  Biol Psychiatry       Date:  2020-10-10       Impact factor: 13.382

Review 5.  Pathways to understanding psychosis through rare - 22q11.2DS - and common variants.

Authors:  Raquel E Gur; David R Roalf; Aaron Alexander-Bloch; Donna M McDonald-McGinn; Ruben C Gur
Journal:  Curr Opin Genet Dev       Date:  2021-02-08       Impact factor: 5.578

6.  Long-term effects of early treatment with SSRIs on cognition and brain development in individuals with 22q11.2 deletion syndrome.

Authors:  Valentina Mancini; Johanna Maeder; Karin Bortolin; Maude Schneider; Marie Schaer; Stephan Eliez
Journal:  Transl Psychiatry       Date:  2021-05-29       Impact factor: 6.222

Review 7.  Structural and functional brain alterations revealed by neuroimaging in CNV carriers.

Authors:  Clara A Moreau; Christopher Rk Ching; Kuldeep Kumar; Sebastien Jacquemont; Carrie E Bearden
Journal:  Curr Opin Genet Dev       Date:  2021-03-31       Impact factor: 4.665

Review 8.  Cross disorder comparisons of brain structure in schizophrenia, bipolar disorder, major depressive disorder, and 22q11.2 deletion syndrome: A review of ENIGMA findings.

Authors:  Eun-Jin Cheon; Carrie E Bearden; Daqiang Sun; Christopher R K Ching; Ole A Andreassen; Lianne Schmaal; Dick J Veltman; Sophia I Thomopoulos; Peter Kochunov; Neda Jahanshad; Paul M Thompson; Jessica A Turner; Theo G M van Erp
Journal:  Psychiatry Clin Neurosci       Date:  2022-02-26       Impact factor: 12.145

9.  Subcortical Signatures of Hemizygosity and Psychosis in 22q11.2 Deletion Syndrome: Finding Common Ground in Rare Genetic Variation.

Authors:  Daniel P Eisenberg; Michael D Gregory; Karen F Berman
Journal:  Am J Psychiatry       Date:  2020-07-01       Impact factor: 19.242

10.  Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome.

Authors:  Adam C Cunningham; Wilson Fung; Thomas H Massey; Jeremy Hall; Michael J Owen; Marianne B M van den Bree; Kathryn J Peall
Journal:  Mov Disord       Date:  2020-05-07       Impact factor: 9.698

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