Literature DB >> 27822729

[Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].

Alexander Kaltenboeck1,2, Fabian Friedrich1, Barbara Hinterbuchinger1, Zsuzsa Litvan1, Nilufar Mossaheb3.   

Abstract

22q11.2 deletion syndrome (clinically also known as velocardiofacial or DiGeorge syndrome) is the most common human microdeletion syndrome and can be associated with a multitude of clinical features. In this article we report the case of a 22-year-old patient from Austria who was diagnosed with previously unknown 22q11.2 deletion syndrome in the context of newly developed psychosis. Using this case as an example, we then discuss the implications of 22q11.2 deletion syndrome for clinical psychiatric practice.

Entities:  

Keywords:  22q11.2 deletion syndrome; First episode psychosis; Schizophrenia spectrum disorder; Velocardiofacial syndrome

Mesh:

Year:  2016        PMID: 27822729     DOI: 10.1007/s40211-016-0203-0

Source DB:  PubMed          Journal:  Neuropsychiatr        ISSN: 0948-6259


  10 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.  Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Authors:  Anne S Bassett; Donna M McDonald-McGinn; Koen Devriendt; Maria Cristina Digilio; Paula Goldenberg; Alex Habel; Bruno Marino; Solveig Oskarsdottir; Nicole Philip; Kathleen Sullivan; Ann Swillen; Jacob Vorstman
Journal:  J Pediatr       Date:  2011-05-12       Impact factor: 4.406

Review 3.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Authors:  Maria Karayiorgou; Tony J Simon; Joseph A Gogos
Journal:  Nat Rev Neurosci       Date:  2010-06       Impact factor: 34.870

Review 4.  Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.

Authors:  Nicole Philip; Anne Bassett
Journal:  Behav Genet       Date:  2011-05-15       Impact factor: 2.805

5.  Response to clozapine in a clinically identifiable subtype of schizophrenia.

Authors:  Nancy J Butcher; Wai Lun Alan Fung; Laura Fitzpatrick; Alina Guna; Danielle M Andrade; Anthony E Lang; Eva W C Chow; Anne S Bassett
Journal:  Br J Psychiatry       Date:  2015-03-05       Impact factor: 9.319

6.  Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

Authors:  Fabíola P Monteiro; Társis P Vieira; Ilária C Sgardioli; Miriam C Molck; Ana Paula Damiano; Josiane Souza; Isabella L Monlleó; Marshall I B Fontes; Agnes C Fett-Conte; Têmis M Félix; Gabriela F Leal; Erlane M Ribeiro; Claudio E M Banzato; Clarissa de R Dantas; Iscia Lopes-Cendes; Vera Lúcia Gil-da-Silva-Lopes
Journal:  Eur J Pediatr       Date:  2013-02-26       Impact factor: 3.183

Review 7.  Schizophrenia and 22q11.2 deletion syndrome.

Authors:  Anne S Bassett; Eva W C Chow
Journal:  Curr Psychiatry Rep       Date:  2008-04       Impact factor: 5.285

8.  Incidental radiologic findings in the 22q11.2 deletion syndrome.

Authors:  J E Schmitt; J J Yi; D R Roalf; L A Loevner; K Ruparel; D Whinna; M C Souders; D M McDonald-McGinn; E Yodh; S Vandekar; E H Zackai; R C Gur; B S Emanuel; R E Gur
Journal:  AJNR Am J Neuroradiol       Date:  2014-06-19       Impact factor: 3.825

Review 9.  22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.

Authors:  Chiara Squarcione; Maria Chiara Torti; Fabio Di Fabio; Massimo Biondi
Journal:  Neuropsychiatr Dis Treat       Date:  2013-12-04       Impact factor: 2.570

Review 10.  Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Authors:  Maude Schneider; Martin Debbané; Anne S Bassett; Eva W C Chow; Wai Lun Alan Fung; Marianne van den Bree; Michael Owen; Kieran C Murphy; Maria Niarchou; Wendy R Kates; Kevin M Antshel; Wanda Fremont; Donna M McDonald-McGinn; Raquel E Gur; Elaine H Zackai; Jacob Vorstman; Sasja N Duijff; Petra W J Klaassen; Ann Swillen; Doron Gothelf; Tamar Green; Abraham Weizman; Therese Van Amelsvoort; Laurens Evers; Erik Boot; Vandana Shashi; Stephen R Hooper; Carrie E Bearden; Maria Jalbrzikowski; Marco Armando; Stefano Vicari; Declan G Murphy; Opal Ousley; Linda E Campbell; Tony J Simon; Stephan Eliez
Journal:  Am J Psychiatry       Date:  2014-06       Impact factor: 18.112

  10 in total
  1 in total

1.  DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.

Authors:  Christoph Kraus; Thomas Vanicek; Ana Weidenauer; Tav Khanaqa; Mara Stamenkovic; Rupert Lanzenberger; Matthäus Willeit; Siegfried Kasper
Journal:  Wien Klin Wochenschr       Date:  2018-04-18       Impact factor: 1.704

  1 in total

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