Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes
Tipo
Artigo
Data de publicação
2011
Periódico
Journal of Applied Research in Intellectual Disabilities
Citações (Scopus)
3
Autores
Jackowski A.P.
Laureano M.R.
Del'Aquilla M.A.
de Moura L.M.
Assuncao I.
Silva I.
Schwartzman J.S.
Laureano M.R.
Del'Aquilla M.A.
de Moura L.M.
Assuncao I.
Silva I.
Schwartzman J.S.
Orientador
Título da Revista
ISSN da Revista
Título de Volume
Membros da banca
Programa
Resumo
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. © 2010 Blackwell Publishing Ltd.