A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome

Linda E. Campbell, Angela Stevens, Eileen Daly, Fiona Toal, Rayna Azuma, Annette Karmiloff-Smith, Declan G M Murphy, Kieran C. Murphy

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical differences associated with 22q11DS are specific to the syndrome. Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS. Methods: In this study, cognition and brain anatomy of 12 children with 22q11DS were compared to 12 age, gender and full scale IQ (FSIQ) matched children with William syndrome (WS) in order to investigate which cognitive and neuroanatomical features are specific to 22q11DS. We chose WS since the literature suggests that both groups have areas of physical/cognitive/behavioural overlap but as yet there has been no direct comparison of the two groups. Results: Despite being matched on FSIQ the WS group had significantly greater impairment than those with 22q11DS on tests of Performance IQ, while performing significantly better on tasks measuring verbal, social and facial processing skills. Moreover there were significant differences in brain anatomy. Despite similar overall brain volumes, midline anomalies were more common among the 22q11DS group, and regional differences such as increased striatal volumes and reduced cerebellar volumes in the 22q11DS group were detected. Conclusions: These findings suggest that although the behavioural phenotype is similar in some aspects there are key differences in cognition and neuroanatomy between the two groups. Different neuropsychological profiles need to be considered when designing educational frameworks for working with these children.

Original languageEnglish
Pages (from-to)1034-1044
Number of pages11
JournalNeuropsychologia
Volume47
Issue number4
DOIs
Publication statusPublished - 2009 Mar
Externally publishedYes

Fingerprint

Williams Syndrome
DiGeorge Syndrome
Cognition
Anatomy
Brain
Neurodevelopmental Disorders
Corpus Striatum
Neuroanatomy
Inborn Genetic Diseases
Interpersonal Relations
Intellectual Disability
Psychotic Disorders

Keywords

  • 22q11.2 deletion syndrome
  • Cognition
  • Magnetic resonance imaging
  • Velo-cardio-facial syndrome
  • Williams syndrome

ASJC Scopus subject areas

  • Behavioral Neuroscience
  • Cognitive Neuroscience
  • Experimental and Cognitive Psychology

Cite this

A comparative study of cognition and brain anatomy between two neurodevelopmental disorders : 22q11.2 deletion syndrome and Williams syndrome. / Campbell, Linda E.; Stevens, Angela; Daly, Eileen; Toal, Fiona; Azuma, Rayna; Karmiloff-Smith, Annette; Murphy, Declan G M; Murphy, Kieran C.

In: Neuropsychologia, Vol. 47, No. 4, 03.2009, p. 1034-1044.

Research output: Contribution to journalArticle

Campbell, Linda E. ; Stevens, Angela ; Daly, Eileen ; Toal, Fiona ; Azuma, Rayna ; Karmiloff-Smith, Annette ; Murphy, Declan G M ; Murphy, Kieran C. / A comparative study of cognition and brain anatomy between two neurodevelopmental disorders : 22q11.2 deletion syndrome and Williams syndrome. In: Neuropsychologia. 2009 ; Vol. 47, No. 4. pp. 1034-1044.
@article{22a01d6674ac4afe828e2ded1767d65b,
title = "A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome",
abstract = "Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical differences associated with 22q11DS are specific to the syndrome. Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS. Methods: In this study, cognition and brain anatomy of 12 children with 22q11DS were compared to 12 age, gender and full scale IQ (FSIQ) matched children with William syndrome (WS) in order to investigate which cognitive and neuroanatomical features are specific to 22q11DS. We chose WS since the literature suggests that both groups have areas of physical/cognitive/behavioural overlap but as yet there has been no direct comparison of the two groups. Results: Despite being matched on FSIQ the WS group had significantly greater impairment than those with 22q11DS on tests of Performance IQ, while performing significantly better on tasks measuring verbal, social and facial processing skills. Moreover there were significant differences in brain anatomy. Despite similar overall brain volumes, midline anomalies were more common among the 22q11DS group, and regional differences such as increased striatal volumes and reduced cerebellar volumes in the 22q11DS group were detected. Conclusions: These findings suggest that although the behavioural phenotype is similar in some aspects there are key differences in cognition and neuroanatomy between the two groups. Different neuropsychological profiles need to be considered when designing educational frameworks for working with these children.",
keywords = "22q11.2 deletion syndrome, Cognition, Magnetic resonance imaging, Velo-cardio-facial syndrome, Williams syndrome",
author = "Campbell, {Linda E.} and Angela Stevens and Eileen Daly and Fiona Toal and Rayna Azuma and Annette Karmiloff-Smith and Murphy, {Declan G M} and Murphy, {Kieran C.}",
year = "2009",
month = "3",
doi = "10.1016/j.neuropsychologia.2008.10.029",
language = "English",
volume = "47",
pages = "1034--1044",
journal = "Neuropsychologia",
issn = "0028-3932",
publisher = "Elsevier Limited",
number = "4",

}

TY - JOUR

T1 - A comparative study of cognition and brain anatomy between two neurodevelopmental disorders

T2 - 22q11.2 deletion syndrome and Williams syndrome

AU - Campbell, Linda E.

AU - Stevens, Angela

AU - Daly, Eileen

AU - Toal, Fiona

AU - Azuma, Rayna

AU - Karmiloff-Smith, Annette

AU - Murphy, Declan G M

AU - Murphy, Kieran C.

PY - 2009/3

Y1 - 2009/3

N2 - Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical differences associated with 22q11DS are specific to the syndrome. Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS. Methods: In this study, cognition and brain anatomy of 12 children with 22q11DS were compared to 12 age, gender and full scale IQ (FSIQ) matched children with William syndrome (WS) in order to investigate which cognitive and neuroanatomical features are specific to 22q11DS. We chose WS since the literature suggests that both groups have areas of physical/cognitive/behavioural overlap but as yet there has been no direct comparison of the two groups. Results: Despite being matched on FSIQ the WS group had significantly greater impairment than those with 22q11DS on tests of Performance IQ, while performing significantly better on tasks measuring verbal, social and facial processing skills. Moreover there were significant differences in brain anatomy. Despite similar overall brain volumes, midline anomalies were more common among the 22q11DS group, and regional differences such as increased striatal volumes and reduced cerebellar volumes in the 22q11DS group were detected. Conclusions: These findings suggest that although the behavioural phenotype is similar in some aspects there are key differences in cognition and neuroanatomy between the two groups. Different neuropsychological profiles need to be considered when designing educational frameworks for working with these children.

AB - Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical differences associated with 22q11DS are specific to the syndrome. Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS. Methods: In this study, cognition and brain anatomy of 12 children with 22q11DS were compared to 12 age, gender and full scale IQ (FSIQ) matched children with William syndrome (WS) in order to investigate which cognitive and neuroanatomical features are specific to 22q11DS. We chose WS since the literature suggests that both groups have areas of physical/cognitive/behavioural overlap but as yet there has been no direct comparison of the two groups. Results: Despite being matched on FSIQ the WS group had significantly greater impairment than those with 22q11DS on tests of Performance IQ, while performing significantly better on tasks measuring verbal, social and facial processing skills. Moreover there were significant differences in brain anatomy. Despite similar overall brain volumes, midline anomalies were more common among the 22q11DS group, and regional differences such as increased striatal volumes and reduced cerebellar volumes in the 22q11DS group were detected. Conclusions: These findings suggest that although the behavioural phenotype is similar in some aspects there are key differences in cognition and neuroanatomy between the two groups. Different neuropsychological profiles need to be considered when designing educational frameworks for working with these children.

KW - 22q11.2 deletion syndrome

KW - Cognition

KW - Magnetic resonance imaging

KW - Velo-cardio-facial syndrome

KW - Williams syndrome

UR - http://www.scopus.com/inward/record.url?scp=60549084157&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=60549084157&partnerID=8YFLogxK

U2 - 10.1016/j.neuropsychologia.2008.10.029

DO - 10.1016/j.neuropsychologia.2008.10.029

M3 - Article

C2 - 19061904

AN - SCOPUS:60549084157

VL - 47

SP - 1034

EP - 1044

JO - Neuropsychologia

JF - Neuropsychologia

SN - 0028-3932

IS - 4

ER -