Skip to main content
    • Aa
    • Aa
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 36
  • Cited by
    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Deng, Yi Goodrich-Hunsaker, Naomi J. Cabaral, Margarita Amaral, David G. Buonocore, Michael H. Harvey, Danielle Kalish, Kristopher Carmichael, Owen T. Schumann, Cynthia M. Lee, Aaron Dougherty, Robert F. Perry, Lee M. Wandell, Brian A. and Simon, Tony J. 2015. Disrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome. Psychiatry Research: Neuroimaging, Vol. 232, Issue. 1, p. 106.

    Scerif, Gaia and Baker, Kate 2015. Annual Research Review: Rare genotypes and childhood psychopathology - uncovering diverse developmental mechanisms of ADHD risk. Journal of Child Psychology and Psychiatry, Vol. 56, Issue. 3, p. 251.

    Allen, T. M. Hersh, J. Schoch, K. Curtiss, K. Hooper, S. R. and Shashi, V. 2014. Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome. Journal of Intellectual Disability Research, Vol. 58, Issue. 1, p. 31.

    Carmel, Miri Zarchi, Omer Michaelovsky, Elena Frisch, Amos Patya, Miriam Green, Tamar Gothelf, Doron and Weizman, Abraham 2014. Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects. Journal of Psychiatric Research, Vol. 56, p. 28.

    Giersch, Anne Glaser, Bronwyn Pasca, Catherine Chabloz, Mélanie Debbané, Martin and Eliez, Stephan 2014. Individuals With 22q11.2 Deletion Syndrome Are Impaired at Explicit, But Not Implicit, Discrimination of Local Forms Embedded in Global Structures. American Journal on Intellectual and Developmental Disabilities, Vol. 119, Issue. 3, p. 261.

    Shapiro, Heather M. Tassone, Flora Choudhary, Nimrah S. and Simon, Tony J. 2014. The development of cognitive control in children with chromosome 22q11.2 deletion syndrome. Frontiers in Psychology, Vol. 5,

    Wong, Ling M. Riggins, Tracy Harvey, Danielle Cabaral, Margarita and Simon, Tony J. 2014. Children With Chromosome 22q11.2 Deletion Syndrome Exhibit Impaired Spatial Working Memory. American Journal on Intellectual and Developmental Disabilities, Vol. 119, Issue. 2, p. 115.

    Schreiner, Matthew J. Lazaro, Maria T. Jalbrzikowski, Maria and Bearden, Carrie E. 2013. Converging levels of analysis on a genomic hotspot for psychosis: Insights from 22q11.2 Deletion Syndrome. Neuropharmacology, Vol. 68, p. 157.

    Hunsaker, Michael R. 2012. Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders. Progress in Neurobiology, Vol. 96, Issue. 2, p. 220.

    Baker, Kate Chaddock, Christopher A. Baldeweg, Torsten and Skuse, David 2011. Neuroanatomy in adolescents and young adults with 22q11 Deletion Syndrome: Comparison to an IQ-matched group. NeuroImage, Vol. 55, Issue. 2, p. 491.

    Drew, Liam J. Crabtree, Gregg W. Markx, Sander Stark, Kimberly L. Chaverneff, Florence Xu, Bin Mukai, Jun Fenelon, Karine Hsu, Pei-Ken Gogos, Joseph A. and Karayiorgou, Maria 2011. The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders. International Journal of Developmental Neuroscience, Vol. 29, Issue. 3, p. 259.

    Furniss, Frederick Biswas, Asit B. Gumber, Rohit and Singh, Niraj 2011. Cognitive phenotype of velocardiofacial syndrome: A review. Research in Developmental Disabilities, Vol. 32, Issue. 6, p. 2206.

    Stoddard, Joel Beckett, Laurel and Simon, Tony J. 2011. Atypical development of the executive attention network in children with chromosome 22q11.2 deletion syndrome. Journal of Neurodevelopmental Disorders, Vol. 3, Issue. 1, p. 76.

    Boot, F.H. Pel, J.J.M. van der Steen, J. and Evenhuis, H.M. 2010. Cerebral Visual Impairment: Which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. Research in Developmental Disabilities, Vol. 31, Issue. 6, p. 1149.

    Eisenberg, Daniel Paul Jabbi, Mbemba and Berman, Karen Faith 2010. Bridging the gene–behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes. NeuroImage, Vol. 53, Issue. 3, p. 857.

    Karayiorgou, Maria Simon, Tony J. and Gogos, Joseph A. 2010. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nature Reviews Neuroscience, Vol. 11, Issue. 6, p. 402.

    Romanos, Marcel Ehlis, Ann-Christine Baehne, Christina G. Jacob, Christian Renner, Tobias J. Storch, Astrid Briegel, Wolfgang Walitza, Susanne Lesch, Klaus-Peter and Fallgatter, Andreas J. 2010. Reduced NoGo-anteriorisation during continuous performance test in deletion syndrome 22q11.2. Journal of Psychiatric Research, Vol. 44, Issue. 12, p. 768.

    Bearden, C. E. van Erp, T. G. M. Dutton, R. A. Lee, A. D. Simon, T. J. Cannon, T. D. Emanuel, B. S. McDonald-McGinn, D. Zackai, E. H. and Thompson, P. M. 2009. Alterations in Midline Cortical Thickness and Gyrification Patterns Mapped in Children with 22q11.2 Deletions. Cerebral Cortex, Vol. 19, Issue. 1, p. 115.

    Crespi, Bernard Summers, Kyle and Dorus, Steve 2009. ORIGINAL ARTICLE: Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evolutionary Applications, Vol. 2, Issue. 1, p. 81.

    De Smedt, Bert Swillen, Ann Verschaffel, Lieven and Ghesquière, Pol 2009. Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review. Developmental Disabilities Research Reviews, Vol. 15, Issue. 1, p. 4.


A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children


We present a multilevel approach to developing potential explanations of cognitive impairments and psychopathologies common to individuals with chromosome 22q11.2 deletion syndrome. Results presented support our hypothesis of posterior parietal dysfunction as a central determinant of characteristic visuospatial and numerical cognitive impairments. Converging data suggest that brain development anomalies, primarily tissue reductions in the posterior brain and changes to the corpus callosum, may affect parietal connectivity. Further findings indicate that dysfunction in “frontal” attention systems may explain some executive cognition impairments observed in affected children, and that there may be links between these domains of cognitive function and some of the serious psychiatric conditions, such as attention-deficit/hyperactivity disorder, autism, and schizophrenia, that have elevated incidence rates in the syndrome. Linking the neural structure and the cognitive processing levels in this way enabled us to develop an elaborate structure/function mapping hypothesis for the impairments that are observed. We show also, that in the case of the catechol-O-methyltransferase gene, a fairly direct relationship between gene expression, cognitive function, and psychopathology exists in the affected population. Beyond that, we introduce the idea that variation in other genes may further explain the phenotypic variation in cognitive function and possibly the anomalies in brain development.We thank the children and families that participated in our studies and the staff of the 22q and You Center at the Children's Hospital of Philadelphia. This work was supported by grants from the NIH (R01HD42974 and R01HD46159) and the Philadelphia Foundation to T.J.S., Grant PO1DC02027 to B.S.E., and Grant M01-RR00240 to the Children's Hospital of Philadelphia.

Corresponding author
Address correspondence and reprint requests to: Tony J. Simon, M.I.N.D. Institute, University of California, Davis, 2825 50th Street, Sacramento, CA 95817; E-mail:
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Development and Psychopathology
  • ISSN: 0954-5794
  • EISSN: 1469-2198
  • URL: /core/journals/development-and-psychopathology
Please enter your name
Please enter a valid email address
Who would you like to send this to? *