Abstract
This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome ...(FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural history study of FXS, were analyzed using descriptive statistics and multivariate linear and logistic regression models to examine SS and signs of HA, their impact on behavioral regulation and limitations on the subject/family. The sample (N = 933) consisted of 720 males and 213 females. More males were affected with SS (87% vs. 68%) and signs of HA (92% vs. 79%). Subjects who were endorsed as having a strong sensory response had more comorbidities, including behavioral problems. The predominant SS was difficulty with eye gaze that increased with age in both genders. As individuals age, there was less use of non-medication therapies, such as occupational therapy (OT)/physical therapy (PT), but there was more use of psychopharmacological medications and investigational drugs for behaviors. Multiple regression models suggested that endorsing SS and signs of HA was associated with statistically significantly increased ABC-C-I subscale scores and limited participation in everyday activities. This study improves our understanding of SS and signs of HA as well as their impact in FXS. It supports the need for more research regarding these clinical symptoms, especially to understand how they contribute to well-known behavioral concerns.
The Transition Radiation Array for Cosmic Energetic Radiation (TRACER) cosmic-ray detector, first flown on long-duration balloon (LDB) in 2003 for observations of the major primary cosmic-ray nuclei ...from oxygen (Z = 8) to iron (Z = 26), has been upgraded to also measure the energies of the lighter nuclei, including the secondary species boron (Z = 5). The instrument was used in another LDB flight in 2006. The properties and performance of the modified detector system are described, and the analysis of the data from the 2006 flight is discussed. The energy spectra of the primary nuclei carbon (Z = 6), oxygen, and iron over the range from 1 GeV amu--1 to 2 TeV amu--1 are reported. The data for oxygen and iron are found to be in good agreement with the results of the previous TRACER flight. The measurement of the energy spectrum of boron also extends into the TeV amu--1 region. The relative abundances of the primary nuclei, such as carbon, oxygen, and iron, above ~10 GeV amu--1 are independent of energy, while the boron abundance, i.e., the B/C abundance ratio, decreases with energy as expected. However, there is an indication that the previously reported E --0.6 dependence of the B/C ratio does not continue to the highest energies.
Key Clinical Message
A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although ...initial genetic findings helped make a correct fragile X syndrome (FXS) determination, the report was insufficient. Ten years later, we repeated and conducted additional genetic and clinical studies to determine whether more information could assist with treatment and counseling. The genetic findings were very consistent with his high functioning and would have enabled us to be more confident about a good developmental outcome had they been available previously. As FXS enters the mainstream of well‐understood genetic disorders and technological advancements improve genetic tests, it should be clearer to clinical providers what a full FXS assessment could include to provide high quality information for care. For individuals with FXS who are high functioning, their families and clinical professionals would benefit from knowing more genetic findings, including, most importantly, methylation status, but also the FMR1 protein (FMRP) level and mRNA level. While we now know that obtaining only the CGG repeat number is not always adequate to inform accurate clinical care, future studies are likely to show the benefit of studying other biomarkers, such as mRNA levels.
Molecular analysis of FMR1 allele for Patient A.
Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We ...employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABC
FX
). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABC
FX
profiles, and adequate non-overlap (≥ 71%): “Mild” (31%), “Moderate without Social Impairment” (32%), “Moderate with Social Impairment” (7%), “Moderate with Disruptive Behavior” (20%), and “Severe” (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development.
The TRACER instrument (Transition Radiation Array for Cosmic Energetic Radiation) has been developed for direct measurements of the heavier primary cosmic-ray nuclei at high energies. The instrument ...had a successful long- duration balloon flight in Antarctica in 2003. The detector system and measurement process are described, details of the data analysis are discussed, and the individual energy spectra of the elements O, Ne, Mg, Si, S, Ar, Ca, and Fe (nuclear charge image -26) are presented. The large geometric factor of TRACER and the use of a transition radiation detector make it possible to determine the spectra up to energies in excess of 10 super(14) eV per particle. A power-law fit to the individual energy spectra above 20 GeV amu super(-1) exhibits nearly the same spectral index for all elements, without noticeable dependence on the elemental charge Z.
Cardiac surgery patients are among those most at risk for developing pressure ulcers (PUs), with a reported incidence as high as 29.5%. Although numerous studies documenting PU risk factors and ...prevention strategies exist, the availability of literature examining risk factors specific to the cardiac surgery population is limited.
A systematic review was completed that aimed to identify the risk factors associated with PU development in critically ill, adult, cardiac surgery patients.
The MEDLINE, CINAHL, and Cochrane databases were searched. Studies that focused on PU risk factors in critical care, surgical intensive care, or cardiac surgery populations and used PU occurrences as an outcome variable were included in the review.
Twelve high-quality studies were retrieved and included in the review; they revealed 30 potential PU risk factors. Current evidence is limited in 2 important ways. First, the impact of intraoperative factors, such as cardiopulmonary bypass time or body temperature, appears to be underexplored. Second, a substantive discussion of the risk factors associated specifically with deep tissue injuries, a unique PU category, is absent.
The relatively high PU incidence among cardiac surgery patients suggests that typical PU prevention methods are insufficient for this population. Targeted prevention measures must be developed and implemented. Completion of this task required identification of risk factors unique to this population. Specific risk factors likely to increase risk among cardiac surgery patients include prolonged exposure to pressure during long surgical procedures, vascular disease, and/or vasopressor use postoperatively. Additional research concerning risk factors specific to this population is urgently needed.
Toilet Training in Fragile X Syndrome Berry-Kravis, Elizabeth; Kidd, Sharon A; Lachiewicz, Ave M ...
Journal of developmental and behavioral pediatrics,
12/2019, Volume:
40, Issue:
9
Journal Article
Peer reviewed
Open access
To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors.
Using baseline data from ...the Fragile X Online Registry With Accessible Research Database (FORWARD), bivariate analyses and logistic regression models were used to identify differences between subjects who were and were not bowel and/or bladder trained by the age of 10 years. Cox proportional hazard models were used to assess the rate of completion of toilet training (TT) as a function of sex and autism spectrum disorder (ASD) diagnosis.
In bivariate analyses, male sex, lower language level, inability to write one's name, more impaired intellectual level, ASD, and more severe behavioral deficits all predicted lack of bladder training (n = 313, p < 0.001) and bowel training (n = 300, p = 0.0004-0.0001) by the age of 10 years. In logistic regression models, lower level of language acquisition (p < 0.001) and higher Aberrant Behavior Checklist Irritability scores (p < 0.04) were associated with lower odds of bladder training by the age of 10 years. Lower level of language acquisition (p < 0.001) and ASD (p < 0.025) were associated with lower odds of bowel training by the age of 10 years. For both bladder and bowel training, Cox proportional hazard models indicated that delayed training was associated with male sex, lower levels of language acquisition, and ASD for both bladder training (n = 486; p < 0.001) and bowel training (n = 472; p < 0.001).
These findings emphasize the importance of both slower language development and ASD diagnosis in predicting bowel and bladder training delays and can be used to develop and evaluate targeted approaches to TT based on sex, ASD diagnosis, and other clinical features identified in this study.
A measurement of the absolute fluorescence yield of the 337 nm nitrogen band, relevant to ultra-high energy cosmic ray (UHECR) detectors, is reported. Two independent calibrations of the fluorescence ...emission induced by a 120 GeV proton beam were employed: Cherenkov light from the beam particle and calibrated light from a nitrogen laser. The fluorescence yield in air at a pressure of 1013 hPa and temperature of 293 K was found to be Y 337 = 5.61 +/- 0.06 stat +/- 0.22 syst photons/MeV. When compared to the fluorescence yield currently used by UHECR experiments, this measurement improves the uncertainty by a factor of three, and has a significant impact on the determination of the energy scale of the cosmic ray spectrum.
In the direct searches for Weakly Interacting Massive Particles (WIMPs) as Dark Matter candidates, the sensitivity of the detector to the incom- ing particle direction could provide a smoking gun ...signature for an interesting event. The SCENE collaboration firstly suggested the possible directional de- pendence of a dual-phase argon Time Projection Chamber through the columnar recombination effect. The Recoil Directionality project (ReD) within the Global Argon Dark Matter Collaboration aims to characterize the light and charge re- sponse of a liquid Argon dual-phase TPC to neutron-induced nuclear recoils to probe for the hint by SCENE. In this work, the directional sensitivity of the de- tector in the energy range of interest for WIMPs (20-100 keV) is investigated with a data-driven analysis involving a Machine Learning algorithm.
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