Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

Autor/inn/en	Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao
Titel	Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes
Quelle	In: Journal of Applied Research in Intellectual Disabilities, 24 (2011) 3, S.217-236 (20 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1360-2322
DOI	10.1111/j.1468-3148.2010.00603.x
Schlagwörter	Mental Retardation; Brain; Behavior; Genetics; Genetic Disorders; Neurological Impairments; Down Syndrome + Suchen Sie Ihr Suchwort? Geistige Behinderung; Gehirn; Humangenetik; Neurodegenerative Erkrankung; 'Downs Syndrome; Down''s Syndrome'; Down-Syndrom
Abstract	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. (As Provided).
Anmerkungen	Wiley-Blackwell. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8598; Fax: 781-388-8232; e-mail: cs-journals@wiley.com; Web site: http://www.wiley.com/WileyCDA/
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10