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Showing 1 to 20 of 69 for “"Fragile X syndrome"”.
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Modeling Autism Spectrum Disorder: Fragile X syndrome and Rett syndrome
… ASD and investigate their therapeutic potential. Fragile X syndrome is a trinucleotide repeat disorder where repeat expansion in the FMR1 5’ untranslated region triggers its methylation and represses its transcription. Yet we were unable to reproduce this methylation when we aggressively expanded …
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Modelling fragile X syndrome in rats: new directions in translational research
Fragile X syndrome (FXS) is the leading single gene cause of intellectual disability and Autism Spectrum Disorder (ASD). It is caused by epigenetic silencing of the fragile X mental retardation gene (FMR1), causing a loss of Fragile-X Mental Retardation Protein (FMRP). Over the last 2 decades, much …
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The Role of G-Quadruplex RNA Motif in Fragile X Syndrome
Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is caused by the loss of expression of the fragile X mental retardation protein (FMRP). As an RNA binding protein, FMRP has been proposed to regulate the transport and translation of specific message RNA (mRNA). It has …
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The Expressed Emotion of Mothers of Children with Fragile X Syndrome
… revealed that mothers with children with fragile X syndrome (FXS) face many challenges, including managing their child's behavior which is a defining characteristic of children with FXS (Epstein, Riley, & Sobesky, 2002). Parents and professionals have become increasingly aware through …
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Dysregulated ERK signal pathway and immune profiles in Fragile X Syndrome
Fragile X Syndrome (FXS) is the leading cause of inherited mental retardation, and the most common identified genetic cause of autism. Lack of production of the Fragile X Mental Retardation Protein (FMRP) leads to changes in dendritic morphology and resultant cognitive and behavioral manifestations …
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Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
<p>Fragile X syndrome (FXS) is the most common form of inherited mental retardation. It is caused by a mutation in the fragile X mental retardation (FMR1) gene on the X chromosome. Many children with FXS exhibit autistic behaviors and deficits in motor coordination including speech articulation …
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Developmental Trajectories of Effortful Control In Young Boys With Fragile X Syndrome
… (Derryberry & Rothbart, 2007). Children with Fragile X Syndrome (FXS) show difficulties in modulating arousal and controlling attention suggesting impairment in effortful control (Cornish, Sudhalter, & Turk, 2004); however, effortful control has not been explicitly investigated in this …
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Cellular and synaptic pathophysiology in a rat model of Fragile X syndrome
Fragile X syndrome (FXS) is the most commonly inherited form of intellectual disability as well as a leading genetic cause of autism spectrum disorder. It is typically the result of a trinucleotide repeat expansion in the Fmr1 gene which leads to loss of the encoded protein, fragile X mental …
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Physiological Correlates of Maternal Responsivity In Mothers of Preschools With Fragile X Syndrome
… examined this relationship in populations with Fragile X syndrome (FXS). Fragile X syndrome is the leading known inherited cause of intellectual disability. The current study explored potential physiological correlates of maternal responsivity and negative parenting behaviors, consisting of …
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Negative Affect Longitudinally Predicts Anxiety, Not Autism, In Young Children With Fragile X Syndrome
<p>Children with fragile X syndrome (FXS) face extremely high risk for anxiety disorders, yet few studies have longitudinally investigated FXS as a high risk sample for teasing apart the early manifestations of debilitating anxiety symptoms. Due to the high comorbidity and overlapping phenotypic …
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Postnatal development of the somatosensory cortex in a rat model of Fragile X Syndrome
Fragile X Syndrome (FXS) is a common single-gene cause of autism and intellectual disability. Prevalent symptoms such as seizures and sensory hypersensitivity arise from cortical dysfunction, which could be underpinned by cortical hyperexcitability. Despite extensive research, currently there are …
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Occupations as an Outcome Measure in a Clinical Trial: Fragile X Syndrome and Sertraline
<p>Fragile X Syndrome (FXS) is the most common form of inherited intellectual and developmental disability, and a known genetic cause of autism. Individuals with FXS present with deficits in cognition, social skills, behavior, language and sensory processing skills; all of which are commonly …
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Living with Fragile X Syndrome: Occupations as an Outcome Measure in a Clinical Trial
… measure in a clinical trial for children with fragile X syndrome (FXS). A qualitative approach was used to analyze twenty-five parent interviews with children with FXS who participated in a double-blind medication trial. Each participant received either sertraline or a placebo. The aim of this …
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Identification of Loss of Specific FMRP-RNA Interactions as a Cause of Fragile X Syndrome
<p>Fragile X Syndrome presents with a clinical picture of moderate to severe mental retardation and behavioral abnormalities including autistic features resulting from the loss of function of a RNA-binding protein, Fragile X mental retardation protein (FMRP). This work is devoted to the …
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Identification And Rescue Of Misregulated Insulin Signaling In A Drosophila Model Of Fragile X Syndrome
Fragile X syndrome (FXS) is an undertreated neurodevelopmental disorder characterized by low IQ and a range of symptoms including disordered sleep and autism. Although FXS is the most prevalent inherited cause of intellectual disability, its mechanistic underpinnings are not well understood. Using …
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Exploring Neural Activities in the Prefrontal Cortex of Fragile X Syndrome Mouse Models Using Electroencephalography
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a leading monogenic contributor to autism spectrum disorder. Human EEG studies have identified alterations in gamma power, alpha slowing, cross-frequency coupling, and reduced signal complexity, suggesting …
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A Prospective, Longitudinal Evaluation of Early Temperament Indicators of Autism in Males with Fragile X Syndrome
… of autism in infants and young children with fragile X syndrome over time, a sample also at high-risk for developing autism. Using extant data, 11 males with fragile X syndrome were followed from 9 months to 106 months of age to examine temperament characteristics as a predictor of the …
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Effects of Sertraline Treatment for Young Children with Fragile X Syndrome: Family Perspectives via Case Studies
<p>Current research on children with Fragile X Syndrome (FXS) lacks inclusion of qualitative outcomes on the child’s daily occupational performance. Standardized measurements are frequently utilized and provide useful information, however, can be less sensitive to change (Berry Kravis et al., 2013) …
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