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Fragile X Syndrome

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https://www.readbyqxmd.com/read/29683194/clinical-experience-with-multigene-carrier-panels-in-the-reproductive-setting
#1
Catherine Terhaar, Nicole Teed, Rachel Allen, Lindsay Dohany, Christina Settler, Carol Holland, Ryan E Longman
OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with three commercial laboratory panels varying in size from 3 to 218 disorders. METHODS: We reviewed outcomes for three multigene carrier screening panels: Trio (3 diseases), Standard (23 diseases), and Global (218 diseases)...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29681800/early-retinal-defects-in-fmr1-y-mice-toward-a-critical-role-of-visual-dys-sensitivity-in-the-fragile-x-syndrome-phenotype
#2
Olivier Perche, Chloé Felgerolle, Maryvonne Ardourel, Audrey Bazinet, Arnaud Pâris, Rafaëlle Rossignol, Géraldine Meyer-Dilhet, Anne-Laure Mausset-Bonnefont, Betty Hébert, David Laurenceau, Céline Montécot-Dubourg, Arnaud Menuet, Jean-Charles Bizot, Jacques Pichon, Isabelle Ranchon-Cole, Sylvain Briault
Fragile X Syndrome (FXS) is caused by a deficiency in Fragile X Mental Retardation Protein (FMRP) leading to global sensorial abnormalities, among which visual defects represent a critical part. These visual defects are associated with cerebral neuron immaturity especially in the primary visual cortex. However, we recently demonstrated that retinas of adult Fmr1 -/y mice, the FXS murine model, present molecular, cellular and functional alterations. However, no data are currently available on the evolution pattern of such defects...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29671637/reading-in-children-with-fragile-x-syndrome-phonological-awareness-and-feasibility-of-intervention
#3
Suzanne M Adlof, Jessica Klusek, Anne Hoffmann, Kerrie L Chitwood, Allison Brazendale, Karen Riley, Leonard J Abbeduto, Jane E Roberts
Individuals with fragile X syndrome (FXS) present with significant deficits in reading skills, but scant research exists to understand the characteristics of the reading delays or best practices for reading instruction with this population. Study 1 examined the relationship between phonological awareness and reading skills in individuals with FXS. Study 2 evaluated the feasibility of a web-based reading intervention, which incorporated phonological awareness and phonics instruction but was originally developed for mainstream students, for children with FXS...
May 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29668986/hits-clip-in-various-brain-areas-reveals-new-targets-and-new-modalities-of-rna-binding-by-fragile-x-mental-retardation-protein
#4
Thomas Maurin, Kevin Lebrigand, Sara Castagnola, Agnès Paquet, Marielle Jarjat, Alexandra Popa, Mauro Grossi, Florence Rage, Barbara Bardoni
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding protein involved in translational regulation of many messenger RNAs, playing key roles in synaptic morphology and plasticity. To date, no effective treatment for FXS is available. We searched for FMRP targets by HITS-CLIP during early development of multiple mouse brain regions (hippocampus, cortex and cerebellum) at a time of brain development when FMRP is most highly expressed and synaptogenesis reaches a peak...
April 14, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#5
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29664322/substitution-of-venous-for-arterial-blood-sampling-in-the-determination-of-regional-rates-of-cerebral-protein-synthesis-with-l-1-11-c-leucine-pet-a-validation-study
#6
Giampaolo Tomasi, Mattia Veronese, Alessandra Bertoldo, Carolyn B Smith, Kathleen C Schmidt
We developed and validated a method to estimate input functions for determination of regional rates of cerebral protein synthesis (rCPS) with L-[1-11 C]leucine PET without arterial sampling. The method is based on a population-derived input function (PDIF) approach, with venous samples for calibration. Population input functions were constructed from arterial blood data measured in 25 healthy 18-24-year-old males who underwent L-[1-11 C]leucine PET scans while awake. To validate the approach, three additional groups of 18-27-year-old males underwent L-[1-11 C]leucine PET scans with both arterial and venous blood sampling: 13 awake healthy volunteers, 10 sedated healthy volunteers, and 5 sedated subjects with fragile X syndrome...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29659612/effects-of-shortened-scanning-intervals-on-calculated-regional-rates-of-cerebral-protein-synthesis-determined-with-the-l-1-11c-leucine-pet-method
#7
Giampaolo Tomasi, Mattia Veronese, Alessandra Bertoldo, Carolyn Beebe Smith, Kathleen C Schmidt
To examine effects of scan duration on estimates of regional rates of cerebral protein synthesis (rCPS), we reanalyzed data from thirty-nine previously reported L-[1-11C]leucine PET studies. Subjects consisted of 12 healthy volunteers studied twice, awake and under propofol sedation, and 15 subjects with fragile X syndrome (FXS) studied once under propofol sedation. All scans were acquired on a high resolution scanner. We used a basis function method for voxelwise estimation of parameters of the kinetic model of L-[1-11C]leucine and rCPS over the interval beginning at the time of tracer injection and ending 30, 45, 60, 75 or 90 min later...
2018: PloS One
https://www.readbyqxmd.com/read/29655507/response-to-name-and-its-value-for-the-early-detection-of-developmental-disorders-insights-from-autism-spectrum-disorder-rett-syndrome-and-fragile-x-syndrome-a-perspectives-paper
#8
Dajie Zhang, Laura Roche, Katrin D Bartl-Pokorny, Magdalena Krieber, Laurie McLay, Sven Bölte, Luise Poustka, Jeff Sigafoos, Markus Gugatschka, Christa Einspieler, Peter B Marschik
BACKGROUND: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. AIMS: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across syndromes. METHODS AND PROCEDURES: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies...
April 11, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29653083/aberrant-rna-translation-in-fragile-x-syndrome-from-fmrp-mechanisms-to-emerging-therapeutic-strategies
#9
Anwesha Banerjee, Marius F Ifrim, Arielle N Valdez, Nisha Raj, Gary J Bassell
Research in the past decades has unfolded the multifaceted role of Fragile X mental retardation protein (FMRP) and how its absence contributes to the pathophysiology of Fragile X syndrome (FXS). Excess signaling through group 1 metabotropic glutamate receptors is commonly observed in mouse models of FXS, which in part is attributed to dysregulated translation and downstream signaling. Considering the wide spectrum of cellular and physiologic functions that loss of FMRP can affect in general, it may be advantageous to pursue disease mechanism based treatments that directly target translational components or signaling factors that regulate protein synthesis...
April 10, 2018: Brain Research
https://www.readbyqxmd.com/read/29643767/utility-of-the-hebb-williams-maze-paradigm-for-translational-research-in-fragile-x-syndrome-a-direct-comparison-of-mice-and-humans
#10
Isabelle Boutet, Charles A Collin, Lindsey S MacLeod, Claude Messier, Matthew R Holahan, Elizabeth Berry-Kravis, Reno M Gandhi, Cary S Kogan
To generate meaningful information, translational research must employ paradigms that allow extrapolation from animal models to humans. However, few studies have evaluated translational paradigms on the basis of defined validation criteria. We outline three criteria for validating translational paradigms. We then evaluate the Hebb-Williams maze paradigm (Hebb and Williams, 1946; Rabinovitch and Rosvold, 1951) on the basis of these criteria using Fragile X syndrome (FXS) as model disease. We focused on this paradigm because it allows direct comparison of humans and animals on tasks that are behaviorally equivalent (criterion #1) and because it measures spatial information processing, a cognitive domain for which FXS individuals and mice show impairments as compared to controls (criterion #2)...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29624914/fragile-x-checklists-a-meta-analysis-and-development-of-a-simplified-universal-clinical-checklist
#11
Toni Kasole Lubala, Aimé Lumaka, Gray Kanteng, Léon Mutesa, Olivier Mukuku, Stanislas Wembonyama, Randi Hagerman, Oscar Numbi Luboya, Prosper Lukusa Tshilobo
BACKGROUND: Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing. METHODS: All published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis...
April 6, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29619043/first-case-report-of-prader-willi-like-syndrome-in-colombia
#12
Estephania Candelo, Max M Feinstein, Diana Ramirez-Montaño, Juan F Gomez, Harry Pachajoa
Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29617515/development-of-white-matter-circuitry-in-infants-with-fragile-x-syndrome
#13
Meghan R Swanson, Jason J Wolff, Mark D Shen, Martin Styner, Annette Estes, Guido Gerig, Robert C McKinstry, Kelly N Botteron, Joseph Piven, Heather C Hazlett
Importance: Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder and the most common inherited cause of intellectual disability in males. However, there are no published data on brain development in children with FXS during infancy. Objective: To characterize the development of white matter at ages 6, 12, and 24 months in infants with FXS compared with that of typically developing controls. Design, Setting, and Participants: Longitudinal behavioral and brain imaging data were collected at 1 or more time points from 27 infants with FXS and 73 typically developing controls between August 1, 2008, and June 14, 2016, at 2 academic medical centers...
April 4, 2018: JAMA Psychiatry
https://www.readbyqxmd.com/read/29605426/translation-relevant-eeg-phenotypes-in-a-mouse-model-of-fragile-x-syndrome
#14
Jonathan W Lovelace, Iryna M Ethell, Devin K Binder, Khaleel A Razak
Identification of comparable biomarkers in humans and validated animal models will facilitate pre-clinical to clinical therapeutic pipelines to treat neurodevelopmental disorders. Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability with symptoms that include increased anxiety, social and sensory processing deficits. Recent EEG studies in humans with FXS have identified neural oscillation deficits that include enhanced resting state gamma power and reduced inter-trial coherence of sound evoked gamma oscillations...
March 29, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29604051/clinical-implication-of-fmr1-intermediate-alleles-in-a-spanish-population
#15
M I Alvarez-Mora, I Madrigal, F Martinez, M I Tejada, S Izquierdo-Alvarez, P S-V de Saz, A Caro-Llopis, O Villate, B Rodríguez-Santiago, L A Pérez-Jurado, L Rodriguez-Revenga, M Milà
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear...
March 31, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29603880/fmr1-premutation-frequency-in-a-large-ethnically-diverse-population-referred-for-carrier-testing
#16
Kailey M Owens, Lindsay Dohany, Carol Holland, Jeana DaRe, Tobias Mann, Christina Settler, Ryan E Longman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (CGG) repeats in the FMR1 gene. Female premutation allele carriers (55-200 CGG repeats) are at risk to have an affected child. Currently, specific population-based carrier screening for FXS is not recommended. Previous studies exploring female premutation carrier frequency have been limited by size or ethnicity. This retrospective study provides a pan-ethnic estimate of the Fragile X premutation carrier frequency in a large, ethnically diverse population of women referred for routine carrier screening during a specified time period at Progenity, Inc...
March 31, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29599705/of-men-and-mice-modeling-the-fragile-x-syndrome
#17
Regina Dahlhaus
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1 , FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29593596/neural-dynamics-of-autistic-repetitive-behaviors-and-fragile-x-syndrome-basal-ganglia-movement-gating-and-mglur-modulated-adaptively-timed-learning
#18
Stephen Grossberg, Devika Kishnan
This article develops the iSTART neural model that proposes how specific imbalances in cognitive, emotional, timing, and motor processes that involve brain regions like prefrontal cortex, temporal cortex, amygdala, hypothalamus, hippocampus, and cerebellum may interact together to cause behavioral symptoms of autism. These imbalances include underaroused emotional depression in the amygdala/hypothalamus, learning of hyperspecific recognition categories that help to cause narrowly focused attention in temporal and prefrontal cortices, and breakdowns of adaptively timed motivated attention and motor circuits in the hippocampus and cerebellum...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29590342/protein-synthesis-levels-are-increased-in-a-subset-of-individuals-with-fragile-x-syndrome
#19
Sébastien Jacquemont, Laura Pacini, Aia E Jønch, Giulia Cencelli, Izabela Rozenberg, Yunsheng He, Laura D'Andrea, Giorgia Pedini, Marwa Eldeeb, Rob Willemsen, Fabrizio Gasparini, Flora Tassone, Randi Hagerman, Baltazar Gomez-Mancilla, Claudia Bagni
Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits in synaptic architecture and plasticity. Preclinical studies revealed that pharmacological interventions restore those deficits, which are thought to mediate the FXS cognitive and behavioral symptoms. Here we characterized the de novo rate of protein synthesis in patients with FXS and their relationship with clinical severity...
March 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29549980/-mathematical-learning-disability-a-multiple-origin-examples-of-turner-and-fragile-x-syndromes
#20
C Deffrennes, M De Clercq, L Vallée, M-P Lemaître
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities...
March 14, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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