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Neurodevelopmental Disorders

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5 papers 100 to 500 followers
By Abraham Nunes Psychiatry resident interested in computational neuroscience, forensic psychiatry, and neuropsychiatry.
Mayada Elsabbagh, Mark H Johnson
The atypical features of social perception and cognition observed in individuals with a diagnosis of autism have been explained in two different ways. First, domain-specific accounts are based on the assumption that these end-state symptoms result from specific impairments within component structures of the social brain network. Second, domain-general accounts hypothesize that rather than being localized, atypical brain structure and function are widespread, or hypothesize that the apparent social brain differences are the consequence of adaptations to earlier occurring widespread changes in brain function...
July 15, 2016: Biological Psychiatry
Silvia Bassani, Jonathan Zapata, Laura Gerosa, Edoardo Moretto, Luca Murru, Maria Passafaro
X-linked intellectual disability (XLID) affects 1% to 3% of the population. XLID subsumes several heterogeneous conditions, all of which are marked by cognitive impairment and reduced adaptive skills. XLID arises from mutations on the X chromosome; to date, 102 XLID genes have been identified. The proteins encoded by XLID genes are involved in higher brain functions, such as cognition, learning and memory, and their molecular role is the subject of intense investigation. Here, we review recent findings concerning a representative group of XLID proteins: the fragile X mental retardation protein; methyl-CpG-binding protein 2 and cyclin-dependent kinase-like 5 proteins, which are involved in Rett syndrome; the intracellular signaling molecules of the Rho guanosine triphosphatases family; and the class of cell adhesion molecules...
October 2013: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
Adrijan Sarajlija, Darija Kisic-Tepavcevic, Zorana Nikolic, Dusanka Savic Pavicevic, Slobodan Obradovic, Milena Djuric, Tatjana Pekmezovic
BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder that represents the second most common cause of mental retardation in females. However, incidence and prevalence of RTT are scarcely reported. METHODS: A retrospective study included all patients with RTT diagnosed between 1981 and 2012 in Serbia. Estimation of incidence and prevalence was calculated on the basis of vital statistics reported by Statistical Office of Republic of Serbia. RESULTS: From 1981 to 2012, RTT has been diagnosed in 102 girls in Serbia...
2015: Neuroepidemiology
Harrison W Gabel, Benyam Kinde, Hume Stroud, Caitlin S Gilbert, David A Harmin, Nathaniel R Kastan, Martin Hemberg, Daniel H Ebert, Michael E Greenberg
Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been proposed to function as a transcriptional repressor, but despite numerous mouse studies examining neuronal gene expression in Mecp2 mutants, no clear model has emerged for how MeCP2 protein regulates transcription. Here we identify a genome-wide length-dependent increase in gene expression in MeCP2 mutant mouse models and human RTT brains...
June 4, 2015: Nature
Mara Dierssen
Down syndrome is the most common form of intellectual disability and results from one of the most complex genetic perturbations that is compatible with survival, trisomy 21. The study of brain dysfunction in this disorder has largely been based on a gene discovery approach, but we are now moving into an era of functional genome exploration, in which the effects of individual genes are being studied alongside the effects of deregulated non-coding genetic elements and epigenetic influences. Also, new data from functional neuroimaging studies are challenging our views of the cognitive phenotypes associated with Down syndrome and their pathophysiological correlates...
December 2012: Nature Reviews. Neuroscience
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