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https://www.readbyqxmd.com/read/29785777/paradoxical-effect-of-baclofen-on-social-behavior-in-the-fragile-x-syndrome-mouse-model
#1
Shimriet Zeidler, Andreea S Pop, Israa A Jaafar, Helen de Boer, Ronald A M Buijsen, Celine E F de Esch, Ingeborg Nieuwenhuizen-Bakker, Renate K Hukema, Rob Willemsen
INTRODUCTION: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability, autism spectrum features, and a broad range of other psychiatric and medical problems. FXS is caused by the lack of the fragile X mental retardation protein (FMRP), a translational regulator of specific mRNAs at the postsynaptic compartment. The absence of FMRP leads to aberrant synaptic plasticity, which is believed to be caused by an imbalance in excitatory and inhibitory network functioning of the synapse...
April 26, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29781139/early-gesture-use-in-fragile-x-syndrome
#2
L Rague, K Caravella, B Tonnsen, J Klusek, J Roberts
BACKGROUND: Emerging evidence suggests that children with fragile X syndrome (FXS) exhibit abnormal gesture use early in development, although few studies have investigated the emergence of gesture use in this population or the impact of autism spectrum disorder (ASD) features on these behaviours. The present study examined the longitudinal development of gesture use in infants with FXS relative to low-risk controls and infant siblings of children with ASD (high-risk siblings), with the goal of establishing potentially unique patterns of gesture development in infants with FXS and understanding the relative impact of ASD symptom severity on these patterns...
May 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29778627/impaired-spatial-processing-in-a-mouse-model-of-fragile-x-syndrome
#3
Mohamed Ghilan, Luis Bettio, Athena Noonan, Patricia S Brocardo, Joana Gil-Mohapel, Brian R Christie
Fragile X syndrome (FXS) is the most common form of inherited intellectual impairment. The Fmr1-/y mouse model has been previously shown to have deficits in context discrimination tasks but not in the elevated plus-maze. To further characterize this FXS mouse model and determine whether hippocampal-mediated behaviours are affected in these mice, dentate gyrus (DG)-dependent spatial processing and Cornu Ammonis 1 (CA1)-dependent temporal order discrimination tasks were evaluated. In agreement with previous findings of long-term potentiation deficits in the DG of this transgenic model of FXS, the results reported here demonstrate that Fmr1-/y mice perform poorly in the DG-dependent metric change spatial processing task...
May 17, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#4
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29774230/early-vocal-development-in-autism-spectrum-disorder-rett-syndrome-and-fragile-x-syndrome-insights-from-studies-using-retrospective-video-analysis
#5
Laura Roche, Dajie Zhang, Katrin D Bartl-Pokorny, Florian B Pokorny, Björn W Schuller, Gianluca Esposito, Sven Bölte, Herbert Roeyers, Luise Poustka, Markus Gugatschka, Hannah Waddington, Ralf Vollmann, Christa Einspieler, Peter B Marschik
This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first two years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies), and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings...
March 2018: Advances in Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#6
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29771335/loss-of-fragile-x-protein-fmrp-impairs-homeostatic-synaptic-downscaling-through-tumor-suppressor-p53-and-ubiquitin-e3-ligase-nedd4-2
#7
Kwan Young Lee, Kathryn A Jewett, Hee Jung Chung, Nien-Pei Tsai
Synaptic scaling allows neurons to homeostatically readjust synaptic strength upon chronic neural activity perturbations. Although altered synaptic scaling has been implicated to underlie imbalanced brain excitability in neurological disorders such as autism spectrum disorders and epilepsy, the molecular dysregulation and restoration of synaptic scaling in those diseases have not been demonstrated. Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, Fragile X Syndrome (FXS)...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29766482/-fragile-x-syndrome-new-therapeutic-strategies
#8
S Zeidler, B Dierckx, K Lubbers, A M van Eeghen, C R Lincke, J A Kievit, R Willemsen, A Rietman
Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking. In the past decades an enormous amount of knowledge has been obtained concerning the involved molecular pathways, introducing potential targets for disease modifying therapy.<br/> AIM: To present an overview of the development of targeted treatment for fxs.<br/> METHOD: Several important publications were collected and indexed.<br/> RESULTS: While preclinical animal model studies with targeted interventions are promising, the translation to the clinic has been disappointing...
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29766042/bc-rna-mislocalization-in-the-fragile-x-premutation
#9
Ilham A Muslimov, Taesun Eom, Anna Iacoangeli, Shih-Chieh Chuang, Renate K Hukema, Rob Willemsen, Dimitre G Stefanov, Robert K S Wong, Henri Tiedge
Fragile X premutation disorder is caused by CGG triplet repeat expansions in the 5' untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2. As a result, BC1 RNA is mislocalized in vivo, as its synapto-dendritic presence is severely diminished in brains of CGG-repeat knock-in animals (a premutation mouse model). Lack of BC1 RNA is known to cause seizure activity and cognitive dysfunction...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29760651/human-dna-helicase-b-as-a-candidate-for-unwinding-secondary-cgg-repeat-structures-at-the-fragile-x-mental-retardation-gene
#10
Gulfem D Guler, Zev Rosenwaks, Jeannine Gerhardt
The fragile X syndrome (FXS) is caused by a CGG repeat expansion at the fragile X mental retardation ( FMR1 ) gene. FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate deficiency. CGG repeats were reported to be able to form secondary structures, such as hairpins, in vitro . When such secondary structures are formed, repeats can lead to replication fork stalling even in the absence of any additional perturbation. Indeed, it was recently shown that the replication forks stall at the endogenous FMR1 locus in unaffected and FXS cells, suggesting the formation of secondary repeat structures at the FMR1 gene in vivo ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#11
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29734272/general-anesthetic-use-in-fragile-x-spectrum-disorders
#12
Andrew Ligsay, Marwa El-Deeb, Maria J Salcedo-Arellano, Nina Schloemerkemper, Jeremy S Grayson, Randi Hagerman
The fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X- associated disorders...
May 4, 2018: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/29730505/a-comparison-of-functional-academic-and-daily-living-skills-in-males-with-fragile-x-syndrome-with-and-without-autism
#13
Melissa Raspa, Vitor Franco, Ellen Bishop, Anne C Wheeler, Amanda Wylie, Donald B Bailey
BACKGROUND: Adaptive behaviors, such as functional academic and daily living skills, are critical for independence in adults with intellectual and developmental disabilities. However, little is known about these skills in fragile X syndrome (FXS), the most common form of inherited intellectual disability. AIMS: The purposes of this study were to describe the functional academic and daily living skills of males diagnosed with FXS across different age groups and compare skill attainment by autism status and other common co-occurring conditions...
May 3, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29722449/overactivity-impulsivity-and-repetitive-behaviour-in-males-with-fragile-x-syndrome-contrasting-developmental-trajectories-in-those-with-and-without-elevated-autism-symptoms
#14
H Crawford, J Moss, C Stinton, G Singla, C Oliver
BACKGROUND: Hyperactivity and repetitive behaviour are characteristic features of fragile X syndrome (FXS). However, little is known about the influence of autism symptomatology on how these characteristics develop over time. We investigate the profiles and developmental trajectories of overactivity, impulsivity and repetitive behaviour, in males with FXS over three time points spanning 8 years. METHOD: Participants formed two subgroups, those who displayed elevated symptoms of autism at Time 1 (n = 37; Mage  = 16...
May 3, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29717432/classifying-dysmorphic-syndromes-by-using-artificial-neural-network-based-hierarchical-decision-tree
#15
Merve Erkınay Özdemir, Ziya Telatar, Osman Eroğul, Yusuf Tunca
Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features...
May 1, 2018: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/29715444/dynamic-duo-fmrp-and-tdp-43-regulating-common-targets-causing-different-diseases
#16
Diana Ferro, Stephen Yao, Daniela C Zarnescu
RNA binding proteins play essential roles during development and aging, and are also involved in disease pathomechanisms. RNA sequencing and omics analyses have provided a window into systems level alterations in neurological disease, and have identified RNA processing defects among notable disease mechanisms. This review focuses on two seemingly distinct neurological disorders, the RNA binding proteins they are linked to, and their newly discovered functional relationship. When deficient, Fragile X Mental Retardation Protein (FMRP) causes developmental deficits and autistic behaviors while TAR-DNA Binding Protein (TDP-43) dysregulation causes age dependent neuronal degeneration...
April 28, 2018: Brain Research
https://www.readbyqxmd.com/read/29713264/modeling-fragile-x-syndrome-in-drosophila
#17
REVIEW
Małgorzata Drozd, Barbara Bardoni, Maria Capovilla
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 ( FMR1 ) encoding the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA metabolism and modulating the expression level of many targets. Most cases of FXS are caused by silencing of FMR1 due to CGG expansions in the 5'-UTR of the gene. Humans also carry the FXR1 and FXR2 paralogs of FMR1 while flies have only one FMR1 gene, here called dFMR1 , sharing the same level of sequence homology with all three human genes, but functionally most similar to FMR1 ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29706865/mental-illnesses-associated-fxr1-and-its-negative-regulator-gsk3%C3%AE-are-modulators-of-anxiety-and-glutamatergic-neurotransmission
#18
Jivan Khlghatyan, Alesya Evstratova, Simon Chamberland, Aleksandra Marakhovskaia, Arash Bahremand, Katalin Toth, Jean-Martin Beaulieu
Genetic variants of the fragile X mental retardation syndrome-related protein 1 ( FXR1) have been associated to mood regulation, schizophrenia, and bipolar disorders. Nonetheless, genetic association does not indicate a functional link of a given gene to neuronal activity and associated behaviors. In addition, interaction between multiple genes is often needed to sculpt complex traits such as behavior. Thus, modulation of neuronal functions by a given gene product, such as Fxr1, has to be thoroughly studied in the context of its interactions with other gene products...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29704597/modelling-fragile-x-syndrome-in-the-laboratory-setting-a-behavioral-perspective
#19
REVIEW
Francesca Melancia, Viviana Trezza
Fragile X syndrome is the most common form of inherited mental retardation and the most frequent monogenic cause of syndromic autism spectrum disorders. The syndrome is caused by the loss of the Fragile X Mental Retardation Protein (FMRP), a key RNA-binding protein involved in synaptic plasticity and neuronal morphology. Patients show intellectual disability, social deficits, repetitive behaviors and impairments in social communication. The aim of this review is to outline the importance of behavioral phenotyping of animal models of FXS from a developmental perspective, by showing how the behavioral characteristics of FXS at the clinical level can be translated into effective, developmentally-specific and clinically meaningful behavioral readouts in the laboratory setting...
April 25, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29703945/critical-period-inhibition-of-nkcc1-rectifies-synapse-plasticity-in-the-somatosensory-cortex-and-restores-adult-tactile-response-maps-in-fragile-x-mice
#20
Qionger He, Erica D Arroyo, Samuel N Smukowski, Jian Xu, Claire Piochon, Jeffrey N Savas, Carlos Portera-Cailliau, Anis Contractor
Sensory perturbations in visual, auditory and tactile perception are core problems in fragile X syndrome (FXS). In the Fmr1 knockout mouse model of FXS, the maturation of synapses and circuits during critical period (CP) development in the somatosensory cortex is delayed, but it is unclear how this contributes to altered tactile sensory processing in the mature CNS. Here we demonstrate that inhibiting the juvenile chloride co-transporter NKCC1, which contributes to altered chloride homeostasis in developing cortical neurons of FXS mice, rectifies the chloride imbalance in layer IV somatosensory cortex neurons and corrects the development of thalamocortical excitatory synapses during the CP...
April 27, 2018: Molecular Psychiatry
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