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

Tony J Simon, Joel P. Bish, Carrie E. Bearden, Lijun Ding, Samantha Ferrante, Vy Nguyen, James C. Gee, Donna M. McDonald-McGinn, Elaine H. Zackai, Beverly S. Emanuel

Research output: Contribution to journalArticle

61 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)753-784
Number of pages32
JournalDevelopment and Psychopathology
Volume17
Issue number3
DOIs
StatePublished - Jul 2005

Fingerprint

DiGeorge Syndrome
Multilevel Analysis
Chromosome Deletion
Psychopathology
Cognition
Brain
Catechol O-Methyltransferase
Corpus Callosum
Attention Deficit Disorder with Hyperactivity
Autistic Disorder
Genes
Psychiatry
Schizophrenia
Gene Expression
Cognitive Dysfunction
Incidence
Population

ASJC Scopus subject areas

  • Developmental and Educational Psychology

Cite this

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. / Simon, Tony J; Bish, Joel P.; Bearden, Carrie E.; Ding, Lijun; Ferrante, Samantha; Nguyen, Vy; Gee, James C.; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Emanuel, Beverly S.

In: Development and Psychopathology, Vol. 17, No. 3, 07.2005, p. 753-784.

Research output: Contribution to journalArticle

Simon, TJ, Bish, JP, Bearden, CE, Ding, L, Ferrante, S, Nguyen, V, Gee, JC, McDonald-McGinn, DM, Zackai, EH & Emanuel, BS 2005, 'A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children', Development and Psychopathology, vol. 17, no. 3, pp. 753-784. https://doi.org/10.1017/S0954579405050364
Simon, Tony J ; Bish, Joel P. ; Bearden, Carrie E. ; Ding, Lijun ; Ferrante, Samantha ; Nguyen, Vy ; Gee, James C. ; McDonald-McGinn, Donna M. ; Zackai, Elaine H. ; Emanuel, Beverly S. / A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. In: Development and Psychopathology. 2005 ; Vol. 17, No. 3. pp. 753-784.
@article{5d1955dc36744f83a11941a71b9d96c0,
title = "A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children",
abstract = "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.",
author = "Simon, {Tony J} and Bish, {Joel P.} and Bearden, {Carrie E.} and Lijun Ding and Samantha Ferrante and Vy Nguyen and Gee, {James C.} and McDonald-McGinn, {Donna M.} and Zackai, {Elaine H.} and Emanuel, {Beverly S.}",
year = "2005",
month = "7",
doi = "10.1017/S0954579405050364",
language = "English (US)",
volume = "17",
pages = "753--784",
journal = "Development and Psychopathology",
issn = "0954-5794",
publisher = "Cambridge University Press",
number = "3",

}

TY - JOUR

T1 - A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

AU - Simon, Tony J

AU - Bish, Joel P.

AU - Bearden, Carrie E.

AU - Ding, Lijun

AU - Ferrante, Samantha

AU - Nguyen, Vy

AU - Gee, James C.

AU - McDonald-McGinn, Donna M.

AU - Zackai, Elaine H.

AU - Emanuel, Beverly S.

PY - 2005/7

Y1 - 2005/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33645921626&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33645921626&partnerID=8YFLogxK

U2 - 10.1017/S0954579405050364

DO - 10.1017/S0954579405050364

M3 - Article

C2 - 16262991

AN - SCOPUS:33645921626

VL - 17

SP - 753

EP - 784

JO - Development and Psychopathology

JF - Development and Psychopathology

SN - 0954-5794

IS - 3

ER -