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Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes
Author(s) -
Jackowski Andrea Parolin,
Laureano Maura Regina,
Del’Aquilla Marco Antônio,
de Moura Luciana Monteiro,
Assunção Idaiane,
Silva Ivaldo,
Schwartzman José Salomão
Publication year - 2011
Publication title -
journal of applied research in intellectual disabilities
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.056
H-Index - 63
eISSN - 1468-3148
pISSN - 1360-2322
DOI - 10.1111/j.1468-3148.2010.00603.x
Subject(s) - neurogenetics , neuroimaging , rett syndrome , psychology , cognition , neuroscience , intellectual disability , angelman syndrome , medicine , psychiatry , biology , disease , gene , pathology , biochemistry
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.