Global ETD Search
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Showing 1 to 20 of 35 for “"Fragile X Syndrome (FXS)"”.
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Deletion of FMR1 results in sex-specific changes in behavior.
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by excessive trinucleotide (CGG) repeats in the FMR1 gene coding for fragile x mental retardation protein (FMRP). In humans, this disorder is characterized by intellectual disability, as well as other behavioral abnormalities, such as …
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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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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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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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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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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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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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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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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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Polarizable Simulations of the bcl-2 DNA G-Quadruplex and FMRP RNA G-Quadruplex:Duplex Junction Binding Protein
… the second is the sc1 RNA GQ, which binds to the Fragile-X Mental Retardation Protein (FMRP) and is implicated in the development of Fragile X Syndrome (FXS). Aberrant bcl-2 GQ conformations result in increased production of the BCL2 protein, which is an apoptosis inhibitor. As such, we aim to …
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Episodic Detail Production and Semantic Coherence in Down Syndrome and Fragile X Syndrome: Longitudinal Findings from Expressive Language Sampling
… coherence in children and adolescents with Down syndrome (DS) and Fragile X syndrome (FXS) using conversational samples from the Expressive Language Sampling (ELS) Conversation task (Abbeduto et al., 2020, 2023). Participants (N = 50) contributed one matched autobiographical topic at two visits …
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The Domestic Chick as a Model for Studying Early Social Behaviors and Dopaminergic Dysfunctions in Autism and Fragile X Syndrome
… of a CRISPR-based genetic model of Fragile X Syndrome (FXS) in chicks, targeting FMR1 to establish a novel avian model for studying ASD-related dysfunctions. By bridging behavioral phenotyping with neurobiological analyses, this work aims to offer new insights into the role of DA in …
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CONSEQUENCES OF CHROMATIN MOSAICISM AND PERSISTENCE IN NEURONAL PLASTICITY AND DISEASE
… heterogeneity contributes to variability in fragile X syndrome (FXS), a neurodevelopmental disorder, cell-type identities, and neuronal plasticity. In FXS, using imaging and genome-wide H3K9me3 profiling in patient-derived neural progenitor cells, I find that the mutation-length CGG expansion …
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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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Ultrastructure and morphometric analysis of hippocampal synapses in the Fmr1-/y mouse model of fragile X syndrome
Fragile X Syndrome (FXS) is a prevalent monogenic disease, often presenting with cognitive and neurological disorders including autism and epilepsy. The Fmr1 gene - transcriptionally silenced in FXS - normally encodes the Fragile X Mental Retardation Protein (FMRP), which acts as an activity …
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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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Examination of the effect of a diet high in vitamin D in a preclinical model of fragile X syndrome.
… affect approximately 17% of the population. Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder that is the most common form of inherited intellectual disability and is a monogenic cause of autism spectrum disorder (ASD). Individuals with FXS lack the ability to synthesize …
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The study of Murine double minute-2 (Mdm2) in regulating neuronal activity-dependent protein translation
… to the elevation of neural activity. Using a fragile X syndrome (FXS) mouse model, we demonstrated this phenomenon is modulated by FMRP-dependent Mdm2 down-regulation. This study provides a possible direction for rescuing the dysregulated Gp1 mGluR signaling observed in fragile X syndrome …
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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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