Our evolving understanding of 22q.11 deletion syndrome

Connell, Fiona; Hodgson, Shirley

doi:10.1017/s0012162205001684

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Discussion1

The Velocardiofacial Syndrome (22q112 Syndrome)1

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2009

2010

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Cited by 2 publications

(2 citation statements)

References 6 publications

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“…9,18 Assessment of children with del(22)(q11.2) revealed that 79% displayed severe motor delays with poor performance during testing, which may be related to attention difficulties and learning disabilities. 25 This would be consistent with the severe motor delay, poor quality of motor skills, and low mental indices found in our chromosomal abnormality group, 70% of whom were affected by del(22)(q11.2). One child with del(22)(q11.2) accounting for 10% of the infants with del(22)(q11.2) and IAA died during the initial hospitalization.…”

Section: Discussionsupporting

confidence: 89%

Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: A descriptive analysis

Joynt

Robertson

Cheung

et al. 2009

The Journal of Thoracic and Cardiovascular Surgery

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Section: Discussionsupporting

confidence: 89%

Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: A descriptive analysis

Joynt

Robertson

Cheung

et al. 2009

The Journal of Thoracic and Cardiovascular Surgery

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“…2001a,b). The 22q11.2 DS is marked by significant heterogeneity in its clinical expression, and the neurocognitive phenotype is also highly variable (Connell & Hodgson 2005) (see Table 1 for details).…”

Section: The Velocardiofacial Syndrome (22q112 Syndrome)mentioning

confidence: 99%

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

Jackowski

Laureano

Del’Aquilla

et al. 2010

Journal of Applied Research in Intellectual Disabilities

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Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant gene-brain-behaviour connections observed in neurogenetic syndromes, such as Williams, Rett, Fragile X, Prader-Willi, Angelman, Down and velocardiofacial (22q11.2 deletion) syndromes. The relationship of altered brain regions and activation patterns are discussed for each syndrome, as well as the clinical, cognitive and behavioural correlates of these neuroimaging findings.

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Our evolving understanding of 22q.11 deletion syndrome

Cited by 2 publications

References 6 publications

Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: A descriptive analysis

Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: A descriptive analysis

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

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