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Fragile X Syndrome

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https://www.readbyqxmd.com/read/29040924/early-social-communication-in-infants-with-fragile-x-syndrome-and-infant-siblings-of-children-with-autism-spectrum-disorder
#1
Laura J Hahn, Nancy C Brady, Lindsay McCary, Lisa Rague, Jane E Roberts
BACKGROUND: Little research in fragile X syndrome (FXS) has prospectively examined early social communication. AIMS: To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. METHODS AND PROCEDURES: Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5-14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants...
October 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29040584/strategies-to-advance-drug-discovery-in-rare-monogenic-intellectual-disability-syndromes
#2
Nuwan C Hettige, Karla Manzano-Vargas, Malvin Jefri, Carl Ernst
Some intellectual disability (ID) syndromes are caused by a mutation in a single gene and have been the focus of therapeutic intervention attempts such as Fragile X and Rett Syndrome, albeit with limited success. The rate at which new drugs are discovered and tested in humans for ID is progressing at a relatively slow pace, and this is particularly true for rare diseases where so few patients make high-quality clinical trials challenging. We discuss how new advances in human stem cell reprogramming and gene editing can facilitate preclinical study design and propose new workflows for how the preclinical to clinical trajectory might proceed given the small number of subjects available in rare monogenic ID syndromes...
October 6, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29040407/genetic-reduction-of-matrix-metalloproteinase-9-promotes-formation-of-perineuronal-nets-around-parvalbumin-expressing-interneurons-and-normalizes-auditory-cortex-responses-in-developing-fmr1-knock-out-mice
#3
Teresa H Wen, Sonia Afroz, Sarah M Reinhard, Arnold R Palacios, Kendal Tapia, Devin K Binder, Khaleel A Razak, Iryna M Ethell
Abnormal sensory responses associated with Fragile X Syndrome (FXS) and autism spectrum disorders include hypersensitivity and impaired habituation to repeated stimuli. Similar sensory deficits are also observed in adult Fmr1 knock-out (KO) mice and are reversed by genetic deletion of Matrix Metalloproteinase-9 (MMP-9) through yet unknown mechanisms. Here we present new evidence that impaired development of parvalbumin (PV)-expressing inhibitory interneurons may underlie hyper-responsiveness in auditory cortex of Fmr1 KO mice via MMP-9-dependent regulation of perineuronal nets (PNNs)...
October 13, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29036014/a-family-with-two-cases-of-melanocytic-tumors-and-fragile-x-syndrome
#4
Candice Lesage, Isabelle Coupier, Bernard Guillot
Fragile X syndrome (FXS), a leading cause of inherited intellectual disability, most commonly results from an expansion of the CGG trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene to more than 200 copies (full mutation). The FXS phenotype differs by sex and is associated with intellectual and cognitive impairment, characteristic physical features, epilepsy, and/or behavioral challenges including autism spectrum disorder. In this patient population, tumors involving blood cells, digestive organs, the central nervous system, and testes have been described, but melanocytic tumors have not been reported...
October 13, 2017: Melanoma Research
https://www.readbyqxmd.com/read/29034517/medication-use-by-adolescents-and-adults-with-fragile-x-syndrome
#5
D J Laxman, J S Greenberg, L S DaWalt, J Hong, M G Aman, M Mailick
BACKGROUND: The behavioural challenges and medical conditions associated with fragile X syndrome (FXS) can lead to increased need for medications. METHOD: This longitudinal study examined the use of prescription medications for psychotropic and non-psychotropic purposes by adolescents and adults with FXS drawn from a North American community sample (N = 105). Odds and probabilities of continuing or discontinuing medication were calculated. Predictors of medication use were calculated...
October 15, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29032290/inferential-language-use-by-youth-with-down-syndrome-during-narration
#6
Shealyn A Ashby, Marie Moore Channell, Leonard Abbeduto
We examined inferential language use by youth with Down syndrome (DS) in the context of narrative storytelling relative to younger typically developing (TD) children and same-aged peers with fragile X syndrome (FXS) matched on nonverbal cognitive ability level. Participants' narratives were coded for the use of different types of inferential language. Participants with DS used proportionately less inferential language overall relative to their counterparts with TD or FXS, although mean length of utterance accounted for group differences observed for the DS-TD group comparison only...
October 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29021279/long-term-fragility-of-y-chromosomes-is-dominated-by-short-term-resolution-of-sexual-antagonism
#7
Heath Blackmon, Yaniv Brandvain
The evolution of heteromorphic sex chromosomes has fascinated biologists, inspiring theoretical models, experimental studies, and studies of genome structure. This work has produced a clear model, in which heteromorphic sex chromosomes result from repeated fixations of inversions (or other recombination suppression mechanisms) that tether sexually antagonistic alleles to sex-determining regions, followed by the degeneration of these regions induced by the lack of sex chromosome recombination in the heterogametic sex...
October 11, 2017: Genetics
https://www.readbyqxmd.com/read/29019551/caries-experience-and-salivary-aspects-in-individuals-with-fragile-x-syndrome
#8
Cristhiane Olívia Ferreira do Amaral, Fabiana Gouveia Straioto, Marcelo Henrique Napimoga, Elizabeth Ferreira Martinez
Fragile X syndrome (FXS) is the most common cause of hereditary mental retardation, but studies on the oral health condition of these patients are rare. The aim of this study was to determine the experience of dental caries in individuals with FXS, by examining the saliva profile, oral hygiene, socioeconomic characteristics and use of controlled drugs in these patients. Dental health was estimated using the decayed, missing and filled teeth index (DMF-T) and sialometry, and the pH value and buffering capacity of the saliva, colony forming units of S...
September 28, 2017: Brazilian Oral Research
https://www.readbyqxmd.com/read/29019321/beyond-excitation-inhibition-imbalance-in-multidimensional-models-of-neural-circuit-changes-in-brain-disorders
#9
Cian O'Donnell, J Tiago Gonçalves, Carlos Portera-Cailliau, Terrence J Sejnowski
A leading theory holds that neurodevelopmental brain disorders arise from imbalances in excitatory and inhibitory (E/I) brain circuitry. However, it is unclear whether this one-dimensional model is rich enough to capture the multiple neural circuit alterations underlying brain disorders. Here we combined computational simulations with analysis of in vivo 2-photon Ca(2+) imaging data from somatosensory cortex of Fmr1 knock-out (KO) mice, a model of Fragile-X Syndrome, to test the E/I imbalance theory. We found that: 1) The E/I imbalance model cannot account for joint alterations in the observed neural firing rates and correlations; 2) Neural circuit function is vastly more sensitive to changes in some cellular components over others; 3) The direction of circuit alterations in Fmr1 KO mice changes across development...
October 11, 2017: ELife
https://www.readbyqxmd.com/read/29016848/mdm2-mediates-fmrp-and-gp1-mglur-dependent-protein-translation-and-neural-network-activity
#10
Dai-Chi Liu, Joseph Seimetz, Kwan Young Lee, Auinash Kalsotra, Hee Jung Chung, Hua Lu, Nien-Pei Tsai
Activating Group 1 (Gp1) metabotropic glutamate receptors (mGluRs), including mGluR1 and mGluR5, elicits translation-dependent neural plasticity mechanisms that are crucial to animal behavior and circuit development. Dysregulated Gp1 mGluR signaling has been observed in numerous neurological and psychiatric disorders. However, the molecular pathways underlying Gp1 mGluR-dependent plasticity mechanisms are complex and have been elusive. In this study, we identified a novel mechanism through which Gp1 mGluR mediates protein translation and neural plasticity...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28984295/r-baclofen-reverses-cognitive-deficits-and-improves-social-interactions-in-two-lines-of-16p11-2-deletion-mice
#11
Laura J Stoppel, Tatiana M Kazdoba, Melanie D Schaffler, Anthony R Preza, Arnold Heynen, Jacqueline N Crawley, Mark F Bear
Human chromosome 16p11.2 microdeletion is among the most common gene copy number variations (CNVs) known to confer risk for intellectual disability (ID) and autism spectrum disorder (ASD), and affects an estimated 3 in 10 000 people. Caused by a single copy deletion of ~27 genes, 16p11.2 microdeletion syndrome is characterized by ID, impaired language, communication and socialization skills, and ASD. Studies in animal models where a single copy of the syntenic 16p11.2 region has been deleted have revealed morphological, behavioral, and electrophysiological abnormalities...
October 6, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28967713/reduction-in-the-number-of-cgg-repeats-on-the-fmr1-gene-in-carriers-of-genetic-disorders-versus-noncarriers
#12
Alexandra Peyser, Tomer Singer, Christine Mullin, Avner Hershlag
OBJECTIVE: CGG repeat expansion on the fragile X mental retardation 1 (FMR1) gene is used to diagnose fragile X syndrome. Previous studies have discussed the correlation between the number of CGG repeats and its associated phenotypic components. The objective of this study is to determine whether the number of CGG repeats differ between carriers of genetic disorders versus noncarriers. METHODS: We performed a retrospective chart review of 2867 patients who received genetic screening at our fertility clinic between June 2013 and July 2015...
October 2, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28960190/fragile-x-syndrome
#13
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
September 29, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28960184/fragile-x-syndrome
#14
REVIEW
Randi J Hagerman, Elizabeth Berry-Kravis, Heather Cody Hazlett, Donald B Bailey, Herve Moine, R Frank Kooy, Flora Tassone, Ilse Gantois, Nahum Sonenberg, Jean Louis Mandel, Paul J Hagerman
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene and the consequent loss of its product, fragile X mental retardation 1 protein (FMRP). FMRP has a central role in gene expression and regulates the translation of potentially hundreds of mRNAs, many of which are involved in the development and maintenance of neuronal synaptic connections...
September 29, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28956679/distance-delivery-of-a-spoken-language-intervention-for-school-aged-and-adolescent-boys-with-fragile-x-syndrome
#15
Andrea McDuffie, Amy Banasik, Lauren Bullard, Sarah Nelson, Robyn Tempero Feigles, Randi Hagerman, Leonard Abbeduto
A small randomized group design (N = 20) was used to examine a parent-implemented intervention designed to improve the spoken language skills of school-aged and adolescent boys with FXS, the leading cause of inherited intellectual disability. The intervention was implemented by speech-language pathologists who used distance video-teleconferencing to deliver the intervention. The intervention taught mothers to use a set of language facilitation strategies while interacting with their children in the context of shared story-telling...
September 28, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28956331/phosphodiesterase-4b-as-a-therapeutic-target-for-cognitive-impairment-and-obesity-related-metabolic-diseases
#16
Steven J Clapcote
People in modern, affluent societies are living longer but also becoming increasingly overweight. With increased life expectancy comes increased risk of developing age-related cognitive decline and neurodegenerative diseases, such that an increasing proportion of life may be lived with cognitive impairment as age increases. Obesity is associated with poorer cognitive function in elderly subjects, and often leads to ill-health arising from various complications such as metabolic syndrome and type-2 diabetes mellitus...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28955201/fragile-x-associated-diminished-ovarian-reserve-and-primary-ovarian-insufficiency-from-molecular-mechanisms-to-clinical-manifestations
#17
REVIEW
Limor Man, Jovana Lekovich, Zev Rosenwaks, Jeannine Gerhardt
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55-200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28948586/-introduction-to-genetic-rare-disease-and-the-application-of-genetic-counseling
#18
Shao-Yin Chu, Chun-Ying Weng
Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare...
October 2017: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/28946865/differential-effects-of-anxiety-and-autism-on-social-scene-scanning-in-males-with-fragile-x-syndrome
#19
REVIEW
Hayley Crawford, Joanna Moss, Chris Oliver, Deborah Riby
BACKGROUND: Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication difficulties alongside high social motivation. However, studies investigating social attention in males with FXS are scarce. Using eye tracking, this study investigates social attention and its relationship with both anxiety and autism symptomatology in males with FXS...
September 25, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28943283/step-inhibition-reverses-behavioral-electrophysiologic-and-synaptic-abnormalities-in-fmr1-ko-mice
#20
Manavi Chatterjee, Pradeep K Kurup, Camilla J Lundbye, Anna Karina Hugger Toft, Jeemin Kwon, Jessie Benedict, Marija Kamceva, Tue G Banke, Paul J Lombroso
Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability, with additional symptoms including attention deficit and hyperactivity, anxiety, impulsivity, and repetitive movements or actions. The majority of FXS cases are attributed to a CGG expansion that leads to transcriptional silencing and diminished expression of fragile X mental retardation protein (FMRP). FMRP, an RNA binding protein, regulates the synthesis of dendritically-translated mRNAs by stalling ribosomal translation. Loss of FMRP leads to increased translation of some of these mRNAs, including the CNS-specific tyrosine phosphatase STEP (STriatal-Enriched protein tyrosine Phosphatase)...
September 21, 2017: Neuropharmacology
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