| 1. |
- Schael, S, et al.
(författare)
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Precision electroweak measurements on the Z resonance
- 2006
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454
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Forskningsöversikt (refereegranskat)abstract
- We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
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| 2. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 3. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 4. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 5. |
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| 6. |
- Dornelas, M., et al.
(författare)
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BioTIME: A database of biodiversity time series for the Anthropocene
- 2018
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Ingår i: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 27:7, s. 760-786
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Tidskriftsartikel (refereegranskat)abstract
- Motivation: The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene. Main types of variables included: The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive. In addition, the database contains metadata relating to sampling methodology and contextual information about each record. Spatial location and grain: BioTIME is a global database of 547,161 unique sampling locations spanning the marine, freshwater and terrestrial realms. Grain size varies across datasets from 0.0000000158 km(2) (158 cm(2)) to 100 km(2) (1,000,000,000,000 cm(2)). Time period and grainBio: TIME records span from 1874 to 2016. The minimal temporal grain across all datasets in BioTIME is a year. Major taxa and level of measurement: BioTIME includes data from 44,440 species across the plant and animal kingdoms, ranging from plants, plankton and terrestrial invertebrates to small and large vertebrates.
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| 7. |
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| 8. |
- van Rheenen, W, et al.
(författare)
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- 2021
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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| 9. |
- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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| 10. |
- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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| 11. |
- Jakosky, B. M., et al.
(författare)
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MAVEN observations of the response of Mars to an interplanetary coronal mass ejection
- 2015
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 350:6261
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Tidskriftsartikel (refereegranskat)abstract
- Coupling between the lower and upper atmosphere, combined with loss of gas from the upper atmosphere to space, likely contributed to the thin, cold, dry atmosphere of modern Mars. To help understand ongoing ion loss to space, the Mars Atmosphere and Volatile Evolution (MAVEN) spacecraft made comprehensive measurements of the Mars upper atmosphere, ionosphere, and interactions with the Sun and solar wind during an interplanetary coronal mass ejection impact in March 2015. Responses include changes in the bow shock and magnetosheath, formation of widespread diffuse aurora, and enhancement of pick-up ions. Observations and models both show an enhancement in escape rate of ions to space during the event. Ion loss during solar events early in Mars history may have been a major contributor to the long-term evolution of the Mars atmosphere.
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| 12. |
- Jakosky, B. M., et al.
(författare)
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The Mars Atmosphere and Volatile Evolution (MAVEN) Mission
- 2015
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Ingår i: Space Science Reviews. - : Springer Science and Business Media LLC. - 0038-6308 .- 1572-9672. ; 195:1-4, s. 3-48
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Forskningsöversikt (refereegranskat)abstract
- The MAVEN spacecraft launched in November 2013, arrived at Mars in September 2014, and completed commissioning and began its one-Earth-year primary science mission in November 2014. The orbiter's science objectives are to explore the interactions of the Sun and the solar wind with the Mars magnetosphere and upper atmosphere, to determine the structure of the upper atmosphere and ionosphere and the processes controlling it, to determine the escape rates from the upper atmosphere to space at the present epoch, and to measure properties that allow us to extrapolate these escape rates into the past to determine the total loss of atmospheric gas to space through time. These results will allow us to determine the importance of loss to space in changing the Mars climate and atmosphere through time, thereby providing important boundary conditions on the history of the habitability of Mars. The MAVEN spacecraft contains eight science instruments (with nine sensors) that measure the energy and particle input from the Sun into the Mars upper atmosphere, the response of the upper atmosphere to that input, and the resulting escape of gas to space. In addition, it contains an Electra relay that will allow it to relay commands and data between spacecraft on the surface and Earth.
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| 13. |
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| 14. |
- Abbott, R., et al.
(författare)
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Hybridization and speciation
- 2013
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Ingår i: Journal of Evolutionary Biology. - : Wiley. - 1010-061X .- 1420-9101. ; 26:2, s. 229-246
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Forskningsöversikt (refereegranskat)abstract
- Hybridization has many and varied impacts on the process of speciation. Hybridization may slow or reverse differentiation by allowing gene flow and recombination. It may accelerate speciation via adaptive introgression or cause near-instantaneous speciation by allopolyploidization. It may have multiple effects at different stages and in different spatial contexts within a single speciation event. We offer a perspective on the context and evolutionary significance of hybridization during speciation, highlighting issues of current interest and debate. In secondary contact zones, it is uncertain if barriers to gene flow will be strengthened or broken down due to recombination and gene flow. Theory and empirical evidence suggest the latter is more likely, except within and around strongly selected genomic regions. Hybridization may contribute to speciation through the formation of new hybrid taxa, whereas introgression of a few loci may promote adaptive divergence and so facilitate speciation. Gene regulatory networks, epigenetic effects and the evolution of selfish genetic material in the genome suggest that the Dobzhansky-Muller model of hybrid incompatibilities requires a broader interpretation. Finally, although the incidence of reinforcement remains uncertain, this and other interactions in areas of sympatry may have knock-on effects on speciation both within and outside regions of hybridization.
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| 15. |
- Behm, K. T., et al.
(författare)
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A spectrometer for ultrashort gamma-ray pulses with photon energies greater than 10 MeV
- 2018
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Ingår i: Review of Scientific Instruments. - : AIP Publishing. - 1089-7623 .- 0034-6748. ; 89:11
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Tidskriftsartikel (refereegranskat)abstract
- © 2018 Author(s). We present a design for a pixelated scintillator based gamma-ray spectrometer for non-linear inverse Compton scattering experiments. By colliding a laser wakefield accelerated electron beam with a tightly focused, intense laser pulse, gamma-ray photons up to 100 MeV energies and with few femtosecond duration may be produced. To measure the energy spectrum and angular distribution, a 33 × 47 array of cesium-iodide crystals was oriented such that the 47 crystal length axis was parallel to the gamma-ray beam and the 33 crystal length axis was oriented in the vertical direction. Using an iterative deconvolution method similar to the YOGI code, modeling of the scintillator response using GEANT4 and fitting to a quantum Monte Carlo calculated photon spectrum, we are able to extract the gamma ray spectra generated by the inverse Compton interaction.
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| 16. |
- Cole, J. M., et al.
(författare)
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Experimental Evidence of Radiation Reaction in the Collision of a High-Intensity Laser Pulse with a Laser-Wakefield Accelerated Electron Beam
- 2018
-
Ingår i: Physical Review X. - 2160-3308. ; 8:1
-
Tidskriftsartikel (refereegranskat)abstract
- The dynamics of energetic particles in strong electromagnetic fields can be heavily influenced by the energy loss arising from the emission of radiation during acceleration, known as radiation reaction. When interacting with a high-energy electron beam, today's lasers are sufficiently intense to explore the transition between the classical and quantum radiation reaction regimes. We present evidence of radiation reaction in the collision of an ultrarelativistic electron beam generated by laser-wakefield acceleration (μ 500 MeV) with an intense laser pulse (a0 > 10). We measure an energy loss in the postcollision electron spectrum that is correlated with the detected signal of hard photons (γ rays), consistent with a quantum description of radiation reaction. The generated γ rays have the highest energies yet reported from an all-optical inverse Compton scattering scheme, with critical energy > 30 MeV.
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| 17. |
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| 18. |
- Baird, Denis A., et al.
(författare)
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Identification of Novel Loci Associated With Hip Shape : A Meta-Analysis of Genomewide Association Studies.
- 2019
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Ingår i: Journal of Bone and Mineral Research. - : Wiley-Blackwell. - 0884-0431 .- 1523-4681. ; 34:2, s. 241-251
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Tidskriftsartikel (refereegranskat)abstract
- We aimed to report the first genomewide association study (GWAS) meta-analysis of dual-energy X-ray absorptiometry (DXA)-derived hip shape, which is thought to be related to the risk of both hip osteoarthritis and hip fracture. Ten hip shape modes (HSMs) were derived by statistical shape modeling using SHAPE software, from hip DXA scans in the Avon Longitudinal Study of Parents and Children (ALSPAC; adult females), TwinsUK (mixed sex), Framingham Osteoporosis Study (FOS; mixed), Osteoporotic Fractures in Men study (MrOS), and Study of Osteoporotic Fractures (SOF; females) (total N = 15,934). Associations were adjusted for age, sex, and ancestry. Five genomewide significant (p < 5 × 10-9 , adjusted for 10 independent outcomes) single-nucleotide polymorphisms (SNPs) were associated with HSM1, and three SNPs with HSM2. One SNP, in high linkage disequilibrium with rs2158915 associated with HSM1, was associated with HSM5 at genomewide significance. In a look-up of previous GWASs, three of the identified SNPs were associated with hip osteoarthritis, one with hip fracture, and five with height. Seven SNPs were within 200 kb of genes involved in endochondral bone formation, namely SOX9, PTHrP, RUNX1, NKX3-2, FGFR4, DICER1, and HHIP. The SNP adjacent to DICER1 also showed osteoblast cis-regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia. For three of the lead SNPs, SNPs in high LD (r2 > 0.5) were identified, which intersected with open chromatin sites as detected by ATAC-seq performed on embryonic mouse proximal femora. In conclusion, we identified eight SNPs independently associated with hip shape, most of which were associated with height and/or mapped close to endochondral bone formation genes, consistent with a contribution of processes involved in limb growth to hip shape and pathological sequelae. These findings raise the possibility that genetic studies of hip shape might help in understanding potential pathways involved in hip osteoarthritis and hip fracture. © 2018 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals, Inc.
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| 19. |
- Baird, DT, et al.
(författare)
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Female contraception over 40
- 2009
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Ingår i: Human reproduction update. - : Oxford University Press (OUP). - 1460-2369 .- 1355-4786. ; 15:6, s. 599-612
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Tidskriftsartikel (refereegranskat)
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| 20. |
- Baird, DT, et al.
(författare)
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Nutrition and reproduction in women
- 2006
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Ingår i: Human reproduction update. - : Oxford University Press (OUP). - 1355-4786 .- 1460-2369. ; 12:3, s. 193-207
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Tidskriftsartikel (refereegranskat)
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| 21. |
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| 22. |
- Chakroborty, Anand, et al.
(författare)
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Modified Hederagenin Derivatives Demonstrate Ex Vivo Anthelmintic Activity against Fasciola hepatica
- 2023
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Ingår i: Pharmaceutics. - : MDPI AG. - 1999-4923. ; 15:7
-
Tidskriftsartikel (refereegranskat)abstract
- Infection with Fasciola hepatica (liver fluke) causes fasciolosis (or fascioliasis) and poses a considerable economic as well as welfare burden to both the agricultural and animal health sectors. Here, we explore the ex vivo anthelmintic potential of synthetic derivatives of hederagenin, isolated in bulk from Hedera helix. Thirty-six compounds were initially screened against F. hepatica newly excysted juveniles (NEJs) of the Italian strain. Eleven of these compounds were active against NEJs and were selected for further study, using adult F. hepatica derived from a local abattoir (provenance unknown). From these eleven compounds, six demonstrated activity and were further assessed against immature liver flukes of the Italian strain. Subsequently, the most active compounds (n = 5) were further evaluated in ex vivo dose response experiments against adult Italian strain liver flukes. Overall, MC042 was identified as the most active molecule and the EC50 obtained from immature and adult liver fluke assays (at 24 h post co-culture) are estimated as 1.07 & mu;M and 13.02 & mu;M, respectively. When compared to the in vitro cytotoxicity of MDBK bovine cell line, MC042 demonstrated the highest anthelmintic selectivity (44.37 for immature and 3.64 for adult flukes). These data indicate that modified hederagenins display properties suitable for further investigations as candidate flukicides.
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| 23. |
- Da Via, C, et al.
(författare)
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Lightwave Analogue Links For LHC Detector Front-ends
- 1994
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 344:1, s. 199-211
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Tidskriftsartikel (refereegranskat)abstract
- The requirements on optical links for transferring analog and digital signals from the detector front-ends to the readout electronics at future high-luminosity colliders are reviewed. The advantages of external modulation techniques are discussed. An outline is given of the the R&D programme recently started at CERN by a collaboration involving high-energy physics institutes, optoelectronics research laboratories and industry, in order to develop electro-optic intensity modulator arrays, particularly for analogue applications, and to investigate the feasibility of volume production. The design of multichannel demonstrators in lithium niobate and III-V semiconductor technology is described. Preliminary results of the performance measurements are presented.
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| 24. |
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| 25. |
- Hop, Paul J., et al.
(författare)
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
- 2022
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Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science. - 1946-6234 .- 1946-6242. ; 14:633
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation-based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions.
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| 26. |
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| 27. |
- Livesey, Michael G., et al.
(författare)
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Acromion morphology is associated with glenoid bone loss in posterior glenohumeral instability
- 2023
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Ingår i: JOURNAL OF SHOULDER AND ELBOW SURGERY. - : Elsevier BV. - 1058-2746 .- 1532-6500. ; 32:9, s. 1850-1856
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Tidskriftsartikel (refereegranskat)abstract
- Background: The acromion morphology in a shoulder with posterior instability differs from that of a shoulder without glenohumeral instability. Specifically, the acromion with a flatter sagittal tilt, greater posterior acromial height, and less posterior coverage is associated with posterior instability. However, the association between acromion morphology and glenoid bone loss (GBL) in the setting of posterior glenohumeral instability has not previously been investigated. The purpose of this study was to determine whether acromial morphology influences the extent or pattern of posterior GBL in a cohort of patients with posterior glenohumeral instability. Methods: This multicenter retrospective study identified 89 shoulders with unidirectional posterior glenohumeral instability. Total area GBL was measured using the best-fit circle method on magnetic resonance imaging (MRI). Shoulders were divided into 3 groups: (1) no GBL (n = 30), (2) GBL 0%-13.5% (n = 45), or (3) GBL > 13.5% (n = 14). Acromion measurements were performed on MRI and included acromial tilt, posterior acromial height, anterior acromial coverage, and posterior acromial coverage. Results: Patients without GBL had a steeper acromial tilt (58.5 degrees +/- 1.4 degrees) compared with those with 0%-13.5% GBL (64.3 degrees +/- 1.5 degrees) or GBL >= 13.5% (67.7 degrees +/- 1.8 degrees) (P =.004). Patients without GBL also had greater posterior coverage (65.4 degrees +/- 1.7 degrees) compared with those with GBL (60.3 degrees +/- 1.4 degrees) (P =.015). Posterior acromion height was not significantly different among groups. Conclusion: The results demonstrate that an acromion with a flatter sagittal tilt and less posterior coverage is associated with GBL in the setting of posterior glenohumeral instability. This is important to consider as posterior GBL has been identified as a risk factor for failure of posterior soft tissue-stabilizing procedures. Level of evidence: Anatomy Study; Imaging (c) 2023 Published by Elsevier Inc. on behalf of Journal of Shoulder and Elbow Surgery Board of Trustees.
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| 28. |
- Pinto, Dalila, et al.
(författare)
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.
- 2014
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Ingår i: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 94:5, s. 677-694
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Tidskriftsartikel (refereegranskat)abstract
- Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0× 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7× 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
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| 29. |
- Sim, Thomas G., et al.
(författare)
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Regional variability in peatland burning at mid-to high-latitudes during the Holocene
- 2023
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Ingår i: Quaternary Science Reviews. - : Elsevier. - 0277-3791 .- 1873-457X. ; 305
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Tidskriftsartikel (refereegranskat)abstract
- Northern peatlands store globally-important amounts of carbon in the form of partly decomposed plant detritus. Drying associated with climate and land-use change may lead to increased fire frequency and severity in peatlands and the rapid loss of carbon to the atmosphere. However, our understanding of the patterns and drivers of peatland burning on an appropriate decadal to millennial timescale relies heavily on individual site-based reconstructions. For the first time, we synthesise peatland macrocharcoal re-cords from across North America, Europe, and Patagonia to reveal regional variation in peatland burning during the Holocene. We used an existing database of proximal sedimentary charcoal to represent regional burning trends in the wider landscape for each region. Long-term trends in peatland burning appear to be largely climate driven, with human activities likely having an increasing influence in the late Holocene. Warmer conditions during the Holocene Thermal Maximum (similar to 9e6 cal. ka BP) were associated with greater peatland burning in North America's Atlantic coast, southern Scandinavia and the Baltics, and Patagonia. Since the Little Ice Age, peatland burning has declined across North America and in some areas of Europe. This decline is mirrored by a decrease in wider landscape burning in some, but not all sub-regions, linked to fire-suppression policies, and landscape fragmentation caused by agricultural expansion. Peatlands demonstrate lower susceptibility to burning than the wider landscape in several instances, probably because of autogenic processes that maintain high levels of near-surface wetness even during drought. Nonetheless, widespread drying and degradation of peatlands, particularly in Europe, has likely increased their vulnerability to burning in recent centuries. Consequently, peatland restoration efforts are important to mitigate the risk of peatland fire under a changing climate. Finally, we make recommendations for future research to improve our understanding of the controls on peatland fires.(c) 2023 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 30. |
- ten Kate, M., et al.
(författare)
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MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study
- 2018
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Ingår i: Alzheimers Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Background: With the shift of research focus towards the pre-dementia stage of Alzheimer's disease (AD), there is an urgent need for reliable, non-invasive biomarkers to predict amyloid pathology. The aim of this study was to assess whether easily obtainable measures from structural MRI, combined with demographic data, cognitive data and apolipoprotein E (APOE) epsilon 4 genotype, can be used to predict amyloid pathology using machine-learning classification. Methods: We examined 810 subjects with structural MRI data and amyloid markers from the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery study, including subjects with normal cognition (CN, n = 337, age 66.5 +/- 72, 50% female, 27% amyloid positive), mild cognitive impairment (MCI, n = 375, age 69. 1 +/- 7.5, 53% female, 63% amyloid positive) and AD dementia (n = 98, age 67.0 +/- 7.7, 48% female, 97% amyloid positive). Structural MRI scans were visually assessed and Freesurfer was used to obtain subcortical volumes, cortical thickness and surface area measures. We first assessed univariate associations between MRI measures and amyloid pathology using mixed models. Next, we developed and tested an automated classifier using demographic, cognitive, MRI and APOE epsilon 4 information to predict amyloid pathology. A support vector machine (SVM) with nested 10-fold cross-validation was applied to identify a set of markers best discriminating between amyloid positive and amyloid negative subjects. Results: In univariate associations, amyloid pathology was associated with lower subcortical volumes and thinner cortex in AD-signature regions in CN and MCI. The multi-variable SVM classifier provided an area under the curve (AUC) of 0.81 +/- O. 07 in MCI and an AUC of 0.74 +/- 0.08 in CN. In CN, selected features for the classifier included APOE epsilon 4, age, memory scores and several MRI measures such as hippocampus, amygdala and accumbens volumes and cortical thickness in temporal and parahippocampal regions. In MCI, the classifier including demographic and APOE epsilon 4 information did not improve after additionally adding imaging measures. Conclusions: Amyloid pathology is associated with changes in structural MRI measures in CN and MCI. An automated classifier based on clinical, imaging and APOE epsilon 4 data can identify the presence of amyloid pathology with a moderate level of accuracy. These results could be used in clinical trials to pre-screen subjects for anti-amyloid therapies.
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| 31. |
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| 32. |
- Zheng, J., et al.
(författare)
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Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures
- 2019
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431 .- 1523-4681. ; 34:10, s. 1824-1836
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Tidskriftsartikel (refereegranskat)abstract
- In bone, sclerostin is mainly osteocyte-derived and plays an important local role in adaptive responses to mechanical loading. Whether circulating levels of sclerostin also play a functional role is currently unclear, which we aimed to examine by two-sample Mendelian randomization (MR). A genetic instrument for circulating sclerostin, derived from a genomewide association study (GWAS) meta-analysis of serum sclerostin in 10,584 European-descent individuals, was examined in relation to femoral neck bone mineral density (BMD; n = 32,744) in GEFOS and estimated bone mineral density (eBMD) by heel ultrasound (n = 426,824) and fracture risk (n = 426,795) in UK Biobank. Our GWAS identified two novel serum sclerostin loci, B4GALNT3 (standard deviation [SD]) change in sclerostin per A allele (beta = 0.20, p = 4.6 x 10(-49)) and GALNT1 (beta = 0.11 per G allele, p = 4.4 x 10(-11)). B4GALNT3 is an N-acetyl-galactosaminyltransferase, adding a terminal LacdiNAc disaccharide to target glycocoproteins, found to be predominantly expressed in kidney, whereas GALNT1 is an enzyme causing mucin-type O-linked glycosylation. Using these two single-nucleotide polymorphisms (SNPs) as genetic instruments, MR revealed an inverse causal relationship between serum sclerostin and femoral neck BMD (beta = -0.12, 95% confidence interval [CI] -0.20 to -0.05) and eBMD (beta = -0.12, 95% CI -0.14 to -0.10), and a positive relationship with fracture risk (beta = 0.11, 95% CI 0.01 to 0.21). Colocalization analysis demonstrated common genetic signals within the B4GALNT3 locus for higher sclerostin, lower eBMD, and greater B4GALNT3 expression in arterial tissue (probability >99%). Our findings suggest that higher sclerostin levels are causally related to lower BMD and greater fracture risk. Hence, strategies for reducing circulating sclerostin, for example by targeting glycosylation enzymes as suggested by our GWAS results, may prove valuable in treating osteoporosis. (c) 2019 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals, Inc.
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| 33. |
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| 34. |
- Bartholomée, Océane, et al.
(författare)
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Shining a light on bumblebee foraging strategies: bumblebee species niche partitioning is related to visual sensory traits
- 2023
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Ingår i: Proceedings of the Royal Society B: Biological Sciences. - 1471-2954. ; 290:1996
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Tidskriftsartikel (refereegranskat)abstract
- Local coexistence of bees has been explained by flower resource partitioning, but coexisting bumblebee species often have strongly overlapping diets. We investigated if light microhabitat niche separation, underpinned by visual traits, could serve as an alternative mechanism underlying local coexistence of bumblebee species. To this end, we focused on a homogeneous flower resource—bilberry—in a heterogeneous light environment—hemi-boreal forests. We found that bumblebee communities segregated along a gradient of light intensity. The community-weighted mean of the eye parameter—a metric measuring the compromise between light sensitivity and visual resolution—decreased with light intensity, showing a higher investment in light sensitivity of communities observed in darker conditions. This pattern was consistent at the species level. In general, species with higher eye parameter (larger investment in light sensitivity) foraged in dimmer light than those with a lower eye parameter (higher investment in visual resolution). Moreover, species realized niche optimum was linearly related to their eye parameter. These results suggest microhabitat niche partitioning to be a potential mechanism underpinning bumblebee species coexistence. This study highlights the importance of considering sensory traits when studying pollinator habitat use and their ability to cope with changing environments.
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| 35. |
- Bartholomée, Océane, et al.
(författare)
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Shining a light on species coexistence : visual traits drive bumblebee communities
- 2023
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Ingår i: Proceedings of the Royal Society of London. Biological Sciences. - 0962-8452 .- 1471-2954. ; 290:1996
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Tidskriftsartikel (refereegranskat)abstract
- Local coexistence of bees has been explained by flower resource partitioning, but coexisting bumblebee species often have strongly overlapping diets. We investigated if light microhabitat niche separation, underpinned by visual traits, could serve as an alternative mechanism underlying local coexistence of bumblebee species. To this end, we focused on a homogeneous flower resource—bilberry—in a heterogeneous light environment—hemi-boreal forests. We found that bumblebee communities segregated along a gradient of light intensity. The community-weighted mean of the eye parameter—a metric measuring the compromise between light sensitivity and visual resolution—decreased with light intensity, showing a higher investment in light sensitivity of communities observed in darker conditions. This pattern was consistent at the species level. In general, species with higher eye parameter (larger investment in light sensitivity) foraged in dimmer light than those with a lower eye parameter (higher investment in visual resolution). Moreover, species realized niche optimum was linearly related to their eye parameter. These results suggest microhabitat niche partitioning to be a potential mechanism underpinning bumblebee species coexistence. This study highlights the importance of considering sensory traits when studying pollinator habitat use and their ability to cope with changing environments.
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| 36. |
- Bisschop, G., et al.
(författare)
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The impact of global selection on local adaptation and reproductive isolation
- 2020
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Ingår i: Philosophical Transactions of the Royal Society B-Biological Sciences. - : The Royal Society. - 0962-8436 .- 1471-2970. ; 375:1806
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Tidskriftsartikel (refereegranskat)abstract
- Despite the homogenizing effect of strong gene flow between two populations, adaptation under symmetric divergent selection pressures results in partial reproductive isolation: adaptive substitutions act as local barriers to gene flow, and if divergent selection continues unimpeded, this will result in complete reproductive isolation of the two populations, i.e. speciation. However, a key issue in framing the process of speciation as a tension between local adaptation and the homogenizing force of gene flow is that the mutation process is blind to changes in the environment and therefore tends to limit adaptation. Here we investigate how globally beneficial mutations (GBMs) affect divergent local adaptation and reproductive isolation. When phenotypic divergence is finite, we show that the presence of GBMs limits local adaptation, generating a persistent genetic load at the loci that contribute to the trait under divergent selection and reducing genome-wide divergence. Furthermore, we show that while GBMs cannot prohibit the process of continuous differentiation, they induce a substantial delay in the genome-wide shutdown of gene flow. This article is part of the theme issue 'Towards the completion of speciation: the evolution of reproductive isolation beyond the first barriers'.
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| 37. |
- Bos, I., et al.
(författare)
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The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics
- 2018
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Ingår i: Alzheimers Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Background: There is an urgent need for novel, noninvasive biomarkers to diagnose Alzheimer's disease (AD) in the predementia stages and to predict the rate of decline. Therefore, we set up the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study. In this report we describe the design of the study, the methods used and the characteristics of the participants. Methods: Participants were selected from existing prospective multicenter and single-center European studies. Inclusion criteria were having normal cognition (NC) or a diagnosis of mild cognitive impairment (MCI) or AD-type dementia at baseline, age above 50 years, known amyloid-beta (A beta) status, availability of cognitive test results and at least two of the following materials: plasma, DNA, magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF). Targeted and untargeted metabolomic and proteomic analyses were performed in plasma, and targeted and untargeted proteomics were performed in CSF. Genome-wide SNP genotyping, next-generation sequencing and methylation profiling were conducted in DNA. Visual rating and volumetric measures were assessed on MRI. Baseline characteristics were analyzed using ANOVA or chi-square, rate of decline analyzed by linear mixed modeling. Results: We included 1221 individuals (NC n = 492, MCI n = 527, AD-type dementia n = 202) with a mean age of 67.9 (SD 8.3) years. The percentage A beta+ was 26% in the NC, 58% in the MCI, and 87% in the AD-type dementia groups. Plasma samples were available for 1189 (97%) subjects, DNA samples for 929 (76%) subjects, MRI scans for 862 (71%) subjects and CSF samples for 767 (63%) subjects. For 759 (62%) individuals, clinical follow-up data were available. In each diagnostic group, the APOE e4 allele was more frequent amongst A beta+ individuals (p < 0.001). Only in MCI was there a difference in baseline Mini Mental State Examination (MMSE) score between the A groups (p< 0.001). A beta+ had a faster rate of decline on the MMSE during follow-up in the NC (p < 0.001) and MCI (p < 0.001) groups. Conclusions: The characteristics of this large cohort of elderly subjects at various cognitive stages confirm the central roles of A beta and APOE epsilon 4 in AD pathogenesis. The results of the multimodal analyses will provide new insights into underlying mechanisms and facilitate the discovery of new diagnostic and prognostic AD biomarkers. All researchers can apply for access to the EMIF-AD MBD data by submitting a research proposal via the EMIF-AD Catalog.
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| 38. |
- Chakroborty, Anand, et al.
(författare)
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Flukicidal effects of abietane diterpenoid derived analogues against the food borne pathogen Fasciola hepatica
- 2022
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Ingår i: Veterinary parasitology. - : Elsevier BV. - 0304-4017 .- 1873-2550. ; 309, s. 109766-
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Tidskriftsartikel (refereegranskat)abstract
- Control of liver fluke infections remains a significant challenge in the livestock sector due to widespread distribution of drug resistant parasite populations. In particular, increasing prevalence and economic losses due to infection with Fasciola hepatica is a direct result of drug resistance to the gold standard flukicide, triclabendazole. Sustainable control of this significant zoonotic pathogen, therefore, urgently requires the identification of new anthelmintics. Plants represent a source of molecules with potential flukicidal effects and, amongst their secondary metabolites, the diterpenoid abietic acids can be isolated in large quantities. In this study, nineteen (19) chemically modified abietic acid analogues (MC_X) were first evaluated for their anthelmintic activities against F. hepatica newly excysted juveniles (NEJs, from the laboratory-derived Italian strain); from this, 6 analogues were secondly evaluated for their anthelmintic activities against adult wild strain flukes. One analogue, MC010, was progressed further against 8-week immature- and 12-week mature Italian strain flukes. Here, MC010 demonstrated moderate activity against both of these intra-mammalian fluke stages (with an adult fluke EC50 = 12.97 mu M at 72 h post culture). Overt mammalian cell toxicity of MC010 was inferred from the Madin-Darby bovine kidney (MDBK) cell line (CC50 = 17.52 mu M at 24 h post culture) and demonstrated that medicinal chemistry improvements are necessary before abietic acid analogues could be considered as potential anthelmintics against liver fluke pathogens
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| 39. |
- Chaplin-Kramer, R., et al.
(författare)
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Transformation for inclusive conservation : Evidence on values, decisions, and impacts in protected areas
- 2023
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Ingår i: Current Opinion in Environmental Sustainability. - : Elsevier. - 1877-3435 .- 1877-3443. ; 64
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Tidskriftsartikel (refereegranskat)abstract
- As countries consider new area-based conservation targets under the Convention on Biological Diversity, protected areas (PAs) and their impacts on people and nature are coming under increasing scrutiny. We review the evidence base on PA impacts, combining the findings from existing rigorous impact evaluations with local case studies developed for this study. We identify characteristics of PA establishment and management that improve the sustainability of biodiversity conservation and justice for local communities. We find that recognizing and respecting local values and knowledge about natural resource stewardship, colearning, and comanagement are key to achieving positive impacts for nature and people. Transforming PA governance toward more inclusive conservation depends upon the ability of PAs to be designed and implemented around the values and needs of local people.
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| 40. |
- Collins, J, et al.
(författare)
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Genetic aspects of female reproduction
- 2008
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Ingår i: Human reproduction update. - : Oxford University Press (OUP). - 1460-2369 .- 1355-4786. ; 14:4, s. 293-307
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Tidskriftsartikel (refereegranskat)
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| 41. |
- Cuzick, J, et al.
(författare)
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Perimenopausal risk factors and future health
- 2011
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Ingår i: Human reproduction update. - : Oxford University Press (OUP). - 1460-2369 .- 1355-4786. ; 17:5, s. 706-717
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Tidskriftsartikel (refereegranskat)
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| 42. |
- Dessne, Petter, et al.
(författare)
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OTEC matters 2015
- 2015
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- For mankind as a whole, and in many respects, the world is becoming a better place each year. In both rich and poor countries the standard of living has improved steadily for a very long time. This progress has a serious drawback, the negative effects on Earth’s climate. It is clear that the only way we can live sustainably is by consuming much less. However, this is not enough: there is an undeniable need for new energy sources. As the world’s population grows, many countries will also face more severe shortages of food and of fresh, disease-free water. Most developing countries are situated in tropical regions and are therefore hit hard by increasing tropical storms and similar weather-based disasters, adding to these problems. Ocean Thermal Energy Conversion (OTEC) technology has been proven to be an ideal candidate for addressing and resolving all of these problems for small island developing states (SIDS), and a few months ago, the EU set aside€72 million euros for constructing OTEC plants outside Martinique. Built on a much larger scale, OTEC can, as the only technology known to man, supply the world with its total energy and fresh water needs, increase seafood production many times over, and cooling off parts of the sea surface when they become too hot – all this without any atmospheric emissions. Thus, it is with great excitement that this very first issue of the only journal dedicated to OTEC is being published. The publication covers many facets of OTEC and related matters, such as OTEC technology, sustainability including gender and other social studies, renewable energy, marine biology, metallurgy, and research on developing countries. The publication is aimed at two different audiences, scientists directly or indirectly involved with OTEC technology, and a more diverse group of people consisting of scientists from non-technical fields, industry people, politicians, investors, educators, and more. This volume is published as part of the publication series of the University of Borås, a progressive Swedish university with a high interest in and knowledge about sustainability.
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| 43. |
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| 44. |
- Foote, Andrew D., et al.
(författare)
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Genome-culture coevolution promotes rapid divergence of killer whale ecotypes
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Analysing population genomic data from killer whale ecotypes, which we estimate have globally radiated within less than 250,000 years, we show that genetic structuring including the segregation of potentially functional alleles is associated with socially inherited ecological niche. Reconstruction of ancestral demographic history revealed bottlenecks during founder events, likely promoting ecological divergence and genetic drift resulting in a wide range of genome-wide differentiation between pairs of allopatric and sympatric ecotypes. Functional enrichment analyses provided evidence for regional genomic divergence associated with habitat, dietary preferences and post-zygotic reproductive isolation. Our findings are consistent with expansion of small founder groups into novel niches by an initial plastic behavioural response, perpetuated by social learning imposing an altered natural selection regime. The study constitutes an important step towards an understanding of the complex interaction between demographic history, culture, ecological adaptation and evolution at the genomic level.
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| 45. |
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| 46. |
- Green, Dido, et al.
(författare)
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A pilot study of psychopathology in Developmental Coordination Disorder
- 2006
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Ingår i: Child Care Health and Development. - : John Wiley & Sons. - 0305-1862 .- 1365-2214. ; 32:6, s. 741-750
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Tidskriftsartikel (refereegranskat)abstract
- Background:This paper explores the prevalence of emotional and behavioural disorders in children referred to a Community Paediatric Occupational Therapy service for assessment and treatment of problems with development of motor skills.Methods:Parents of 47 children from a clinical sample of children who had been identified with Developmental Coordination Disorder (DCD) returned the Strengths and Difficulties Questionnaire (SDQ) - a brief measure of the pro-social behaviour and psychopathology that can be completed by parents, teachers or youths.Results: Significant emotional and behavioural problems were reported by 29 parents (62%) with a further six (13%) reporting problems in the borderline range. Seven children (15%) were without significant problems in one or more area although only four of these (9%) were outside the borderline range for all of the sub-domains of the SDQ.Discussion:A significant proportion of children with DCD were reported by their parents to be at risk of psychopathology. Further research is needed to understand the relationship between motor difficulties and emotional and behavioural symptoms; however, it is recommended that interventions for children with DCD should support mental health and behavioural problems as well as motor development.
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| 47. |
- Green, Dido, et al.
(författare)
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Brief Report : DSM-5 Sensory Behaviours in Children With and Without an Autism Spectrum Disorder
- 2016
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Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 46:11, s. 3597-3606
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Tidskriftsartikel (refereegranskat)abstract
- Atypical responses to sensory stimuli are a new criterion in DSM-5 for the diagnosis of an autism spectrum disorder (ASD) but are also reported in other developmental disorders. Using the Short Sensory profile (SSP) and Autism Diagnostic Interview-Revised we compared atypical sensory behaviour (hyper- or hypo-reactivity to sensory input or unusual sensory interests) in children aged 10–14 years with (N = 116) or without an ASD but with special educational needs (SEN; N = 72). Atypical sensory behaviour was reported in 92 % of ASD and 67 % of SEN children. Greater sensory dysfunction was associated with increased autism severity (specifically restricted and repetitive behaviours) and behaviour problems (specifically emotional subscore) on teacher and parent Strengths and Difficulties Questionnaires but not with IQ.
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| 48. |
- Green, Dido, et al.
(författare)
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Impairment in movement skills of children with autistic spectrum disorders
- 2009
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Ingår i: Developmental Medicine & Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 51:4, s. 311-316
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Tidskriftsartikel (refereegranskat)abstract
- Aim:We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range.Methods:Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n = 101: 89 males, 12 females; mean age 11 y 4 mo, SD 10 mo; range 10 y-14 y 3 mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment (n = 97 with complete M-ABCs and DCDQs).Results:Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties.Interretation:Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation.
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| 49. |
- Green, Dido, et al.
(författare)
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Is questionnaire-based screening part of the solution to waiting lists for children with developmental coordination disorder?
- 2005
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Ingår i: British Journal of Occupational Therapy. - : Sage Publications. - 0308-0226 .- 1477-6006. ; 68:1, s. 2-10
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Tidskriftsartikel (refereegranskat)abstract
- This study was undertaken to determine whether questionnaire-based screening could be part of the solution to a long waiting list of referrals for occupational therapy assessment by identifying the requirement for clinical assessments. The performance of two questionnaires - the Developmental Coordination Disorder Questionnaire (DCDQ) completed by parents and the Checklist of the Movement Assessment Battery for Children (C-ABC) completed by teachers - was compared with a more traditional clinical assessment for the identification of DCD in children already referred to occupational therapy. It was found that the parent report was quite reliable in the identification of DCD if no other developmental problem was present. However, there was little benefit to using the teacher report to screen children. Several confounding variables, including an unequal proportion of children with DCD in the sample and the inclusion of children who were younger than the age range of the DCDQ, may have influenced how well the questionnaires performed. Although questionnaires cannot replace a full clinical assessment, the results showed that there may be some value in including the parent report in the identification of DCD.
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| 50. |
- Green, Dido, et al.
(författare)
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The severity and nature of motor impairment in Asperger's syndrome : A comparison with Specific Developmental Disorder of Motor Function
- 2002
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Ingår i: Journal of Child Psychology and Psychiatry. - : Wiley. - 0021-9630 .- 1469-7610. ; 43:5, s. 655-668
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Tidskriftsartikel (refereegranskat)abstract
- Background:The aims of this study were to measure objectively the extent and severity of motor impairment in children with Asperger's syndrome and to determine whether the motor difficulties experienced by such children differed in any way from those classified as having a Specific Developmental Disorder of Motor Function (SDD-MF). Criteria derived from ICD 10-R were used to identify 11 children with Asperger's syndrome and a matched group of 9 children with a Specific Developmental Disorder of Motor Function. Children in both groups were required to have a verbal IQ of 80 or greater on the WISC IIIR.Method:The Autism Diagnostic Interview (Revised; Lord, Rutter, & LeCouteur, 1994) was used to identify features of AS in the first group and to exclude them in the latter. The Movement Assessment Battery for Children (Henderson & Sugden, 1992) provided a standardised test of motor impairment. A Gesture Test based on that by Cermak, Coster, and Drake (1980) was used to assess the child's ability to mime the use of familiar tools and to imitate meaningless sequences of movements.Results:All the children with Asperger's syndrome turned out to meet our criterion for a diagnosis of motor impairment, five of the six most severely motor impaired children in the whole study being from this group. Performance of the Asperger group was also slightly poorer on the Gesture Test. The profile of performance on each test was examined in detail but no evidence of group differences in the pattern of impairment was found.Conclusions:This study is consistent with others suggesting a high prevalence of clumsiness in Asperger's syndrome. Our findings also attest to the widespread prevalence of motor impairment in developmental disorders and the problems such co-morbidity poses for attempts to posit discrete and functionally coherent impairments underlying distinct syndromes.
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