66 research outputs found
Diagnosis of the fragile X syndrome in males using methylation-specific PCR of the FMRI locus
Geophysical Surveys of a Known Karst Feature, Oak Ridge Y-12 Plant, Oak Ridge, Tennessee
Geophysical data were acquired at a site on the Oak Ridge Reservation, Tennessee to determine the characteristics of a mud-filled void and to evaluate the effectiveness of a suite of geophysical methods at the site. Methods that were used included microgravity, electrical resistivity, and seismic refraction. Both microgravity and resistivity were able to detect the void as well as overlying structural features. The seismic data provide bedrock depth control for the other two methods, and show other effects that are caused by the void
Geophysical Surveys of a Known Karst Feature, Oak Ridge Y-12 Plant, Oak Ridge, Tennessee
Geophysical data were acquired at a site on the Oak Ridge Reservation, Tennessee to determine the characteristics of a mud-filled void and to evaluate the effectiveness of a suite of geophysical methods at the site. Methods that were used included microgravity, electrical resistivity, and seismic refraction. Both microgravity and resistivity were able to detect the void as well as overlying structural features. The seismic data provide bedrock depth control for the other two methods, and show other effects that are caused by the void
Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome
Selective Cerebral Volume Reduction in Rett Syndrome: A Multiple-Approach MR Imaging Study
Development of socio-communicative skills in 9-to 12-month-old individuals with fragile X syndrome
Item does not contain fulltextWe investigated the early socio-communicative development of individuals with fragile X syndrome (FXS) by undertaking a retrospective analysis of family videos. Videos were analyzed to identify existing communicative forms and functions. Analyses were undertaken on seven children who were later diagnosed with FXS. The children were filmed when they were 9-12 months old and before being diagnosed. Fourteen different communicative forms and six different communicative functions were observed. All participants were observed to express the functions of 'Attention to self' and 'Answering', but none indicated 'Requesting action', 'Requesting information', 'Choice making', or 'Imitating'. Results suggest that children with FXS may have a limited range of communicative forms and functions when they are from 9 to 12 months of age. However, further research is necessary to gain a specific developmental profile of socio-communicative forms and functions in FXS
Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal of this study was to better understand seizures in individuals with FXS using the Fragile X Online Registry with Accessible Research Database, a multisite observational study initiated in 2012 involving FXS clinics in the Fragile X Clinic and Research Consortium. Seizure data were available for 1,607 participants, mostly male (77%) and white (74.5%). The overall prevalence of at least one seizure was 12%, with this rate being significantly higher in males than females (13.7 vs. 6.2%, p 80%) having onset of seizures which was before 10. For those with epilepsy, about half (52%) had seizures for more than 3 years. This group was found to have greater cognitive and language impairment, but not behavioral disruptions, compared with those with seizures for <3 years. Antiepileptic drugs were more often used in males (60.6%) than females (34.8%), and females more often required more than one medication. The most commonly used anticonvulsants were oxcarbazepine, valproic acid, lamotrigine, and levetiracetam. The current study is the largest and first longitudinal study ever conducted to describe seizures in FXS. Overall, this study confirms previous reports of seizures in FXS and extends previous findings by further defining the cognitive and behavioral phenotype of those with epilepsy in FXS. Future studies should further investigate the natural history of seizures in FXS and the characteristics of seizures in FXS in adulthood. Copyright © 2021 Berry-Kravis, Filipink, Frye, Golla, Morris, Andrews, Choo, Kaufmann and the FORWARD Consortium.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]
“Time-Ruler” superior to GSSPs and calibrations — a formatted correlation table as a standard of chronostratigraphy
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