James Wilson, MD, PhD, from the University of Pennsylvania, Joins the...

The Rett Syndrome Research Trust (RSRT) is pleased to announce that James Wilson, MD, PhD, director of the University of Pennsylvania Gene Therapy Program and the Rose H. Weiss Orphan Disease Center,...(PRWeb January 26, 2018)Read the full story at http://www.prweb.com/releases/2018/01/prweb15132993.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news

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ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. In this context, environmental enrichment emerged as a promising and noninvasive experimental treatment for favoring recovery of cognitive and sensory functions in different neurodevelopmental disorders. The aim of this review is to depict, mainly through the much explicative examples of amb...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Source: Developmental Neurorehabilitation - Category: Neurology Authors: Source Type: research
AbstractPurpose of ReviewTo summarize findings about the emergence and characteristics of canonical babbling in children with late detected developmental disorders (LDDDs), such as autism spectrum disorder, Rett syndrome, and fragile X syndrome. In particular, we ask whether infants ’ vocal development in the first year of life contains any markers that may contribute to earlier detection of these disorders.Recent FindingsOnly a handful studies have investigated canonical babbling in infants with LDDDs. With divergent research paradigms and definitions applied, findings on the onset and characteristics of canonical b...
Source: Current Developmental Disorders Reports - Category: Child Development Source Type: research
Objective: We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT). Methods: Sixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes o...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Inputs from the ventral hippocampus (vHIP) to the medial prefrontal cortex (mPFC) are implicated in several neuropsychiatric disorders. Here, we show that the vHIP-mPFC projection is hyperactive in theMecp2knockout mouse model of the autism spectrum disorder Rett syndrome, which has deficits in social memory. Long-term excitation of mPFC-projecting vHIP neurons in wild-type mice impaired social memory, whereas their long-term inhibition in Rett mice rescued social memory deficits. The extent of social memory improvement was negatively correlated with vHIP-evoked responses in mPFC slices, on a mouse-per-mouse basis. Acute m...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
Conclusions: These preliminary results reveal decreased uptake of [11C]UCB-J in the Rett syndrome mouse model are consistent with the hypothesis that the loss of Mecp2 gene may result in decreased synaptic density in the cerebral cortex. Studies are ongoing to increase the sample size that may inform future investigation into whether [11C]UCB-J imaging can serve as a valid biomarker in individuals with Rett syndrome.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Basic Science I (Neurosciences) Source Type: research
Publication date: Available online 18 May 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Livia Cosentino, Daniele Vigli, Francesca Franchi, Giovanni Laviola, Bianca De FilippisAbstractRett syndrome (RTT) is a rare neurological disorder primarily affecting females, causing severe cognitive, social, motor and physiological impairments for which no cure currently exists. RTT clinical diagnosis is based on the peculiar progression of the disease, since patients show an apparently normal initial development with a subsequent sudden regression at around 2 years of age. Accumulating evidences are rising doubts rega...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
The cover image is based on the Original ArticleA clinical case ‐control comparison of epidermal innervation density in Rett syndrome by Frank J. Symons et al., DOI:10.1002/brb3.1285.
Source: Brain and Behavior - Category: Neurology Authors: Tags: COVER IMAGE Source Type: research
CONCLUSION: This is the first study to identify QOL domains important for adults with RTT. Health and therapy needs are ongoing during adulthood but services may be limited. Findings will guide choice of an appropriate QOL measure for this group. IMPLICATIONS FOR REHABILITATION Knowing the important domains of quality of life enables clinicians and service providers to systematically review and address key management issues. Despite a high level of dependency and sometimes poor health, parent caregivers perceive potential for strong quality of life in adulthood. Services that maintain functional skills and health throughou...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
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