Computer-Based Training Studied in Children With Fragile X Syndrome

WEDNESDAY, May 15, 2019 -- No significant difference in outcomes was observed in children and adolescents with fragile X syndrome (FXS) receiving adaptive versus nonadaptive in-home cognitive training, according to a study published online April 15...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news

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The loss of fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS), the most common inherited intellectual disability. How the loss of FMRP alters protein expression and astroglial functions remains essentially unknown. Here we showed that selective loss of astroglial FMRP in vivo up-regulates a brain-enriched miRNA, miR-128-3p,...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Abstract Fragile X syndrome (FXS), a neurodevelopmental disorder with autistic features, is caused by the loss of the fragile X mental retardation protein. Sex-specific differences in the clinical profile have been observed in FXS patients, but few studies have directly compared males and females in rodent models of FXS. To address this, we performed electroencephalography (EEG) recordings and a battery of autism-related behavioral tasks on juvenile and young adult Fmr1 knockout (KO) rats. EEG analysis demonstrated that compared to wild-type, male Fmr1 KO rats showed an increase in gamma frequency band power in th...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Contributors : Annie Hien ; Gemma Molinaro ; Botao Liu ; Kimberly M Huber ; Joel D RichterSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMetabotropic glutamate receptor-mediated long-term depression (mGluR-LTD) is a form of synaptic plasticity that is dysregulated in multiple mouse models of autism, including fragile X syndrome and tuberous sclerosis.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
AbstractFragile X syndrome (FXS) is the most common inherited source of intellectual disability in humans. FXS is caused by mutations that trigger epigenetic silencing of theFmr1 gene. Loss ofFmr1 results in increased activity of the mitogen-activated protein kinase (MAPK) pathway. An important downstream consequence is activation of the mitogen-activated protein kinase interacting protein kinase (MNK). MNK phosphorylates the mRNA cap-binding protein, eukaryotic initiation factor 4E (eIF4E). Excessive phosphorylation of eIF4E has been directly implicated in the cognitive and behavioral deficits associated with FXS. Pharmac...
Source: Neurotherapeutics - Category: Neurology Source Type: research
Conclusion Results of persistent language impairments for most youths with FXS suggest the need for continued, focused interventions aimed at improved language productions in addition to a responsive environment. Supplemental Material https://doi.org/10.23641/asha.13022825. PMID: 33002370 [PubMed - as supplied by publisher]
Source: Journal of speech, language, and hearing research : JSLHR - Category: Speech-Language Pathology Authors: Tags: J Speech Lang Hear Res Source Type: research
To gain better insight into the dynamic interaction between cells and their environment, we developed the agonist-induced Functional Analysis and Cell Sorting (aiFACS) technique, which allows the simultaneous recording and sorting of cells in real-time according to their immediate and individual response to a stimulus. By modulating the aiFACS selection parameters, testing different developmental times, using various stimuli, and multiplying the analysis of readouts, it is possible to analyze cell populations of any normal or pathological tissue. The association of aiFACS with single-cell transcriptomics allows the constru...
Source: Genome Research - Category: Genetics & Stem Cells Authors: Tags: METHOD Source Type: research
Barrett LE Abstract Fragile X mental retardation 1 (FMR1) encodes the RNA binding protein FMRP. Loss of FMRP drives Fragile X syndrome (FXS), the leading inherited cause of intellectual disability and a leading monogenic cause of autism. While cortical hyperexcitability is a hallmark of FXS, the reported phenotypes and underlying mechanisms, including alterations in synaptic transmission and ion channel properties, are heterogeneous and at times contradictory. Here, we report the generation of new isogenic FMR1y/+ and FMR1y/- human pluripotent stem cell (hPSC) lines using CRISPR-Cas9 to facilitate the study of ho...
Source: Developmental Biology - Category: Biology Authors: Tags: Dev Biol Source Type: research
The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological asses...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Loss or disrupted expression of the FMR1 gene causes fragile X syndrome (FXS), the most common monogenetic form of autism in humans. Although disruptions in sensory processing are core traits of FXS and autism, t...
Source: BMC Biology - Category: Biology Authors: Tags: Research article Source Type: research
ConclusionsThe mixed effects of MTEP on cognitive performance may arise from opposing actions at pre- vs. post-synaptic mGluR5 in dlPFC. These data from monkeys suggest that future clinical trials should include low doses, and identification of potential subgroup responders.
Source: Psychopharmacology - Category: Psychiatry Source Type: research
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