Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

International audienceBackground: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. Methodology: The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. Findings: FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. Conclusions: The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism

T2K neutrino flux prediction

cited By 15 art_number: 012001 affiliation: Centre for Particle Physics, Department of Physics, University of Alberta, Edmonton, AB, Canada; Albert Einstein Center for Fundamental Physics, Laboratory for High Energy Physics (LHEP), University of Bern, Bern, Switzerland; Department of Physics, Boston University, Boston, MA, United States; Department of Physics and Astronomy, University of British Columbia, Vancouver, BC, Canada; Department of Physics and Astronomy, University of California Irvine, Irvine, CA, United States; IRFU, CEA Saclay, Gif-sur-Yvette, France; Institute for Universe and Elementary Particles, Chonnam National University, Gwangju, South Korea; Department of Physics, University of Colorado at Boulder, Boulder, CO, United States; Department of Physics, Colorado State University, Fort Collins, CO, United States; Department of Physics, Dongshin University, Naju, South Korea; Department of Physics, Duke University, Durham, NC, United States; IN2P3-CNRS, Laboratoire Leprince-Ringuet, Ecole Polytechnique, Palaiseau, France; Institute for Particle Physics, ETH Zurich, Zurich, Switzerland; Section de Physique, DPNC, University of Geneva, Geneva, Switzerland; H. Niewodniczanski Institute of Nuclear Physics PAN, Cracow, Poland; High Energy Accelerator Research Organization (KEK), Tsukuba, Ibaraki, Japan; Institut de Fisica d’Altes Energies (IFAE), Bellaterra (Barcelona), Spain; IFIC (CSIC and University of Valencia), Valencia, Spain; Department of Physics, Imperial College London, London, United Kingdom; INFN Sezione di Bari, Dipartimento Interuniversitario di Fisica, Università e Politecnico di Bari, Bari, Italy; INFN Sezione di Napoli and Dipartimento di Fisica, Università di Napoli, Napoli, Italy; INFN Sezione di Padova, Dipartimento di Fisica, Università di Padova, Padova, Italy; INFN Sezione di Roma, Università di Roma la Sapienza, Roma, Italy; Institute for Nuclear Research, Russian Academy of Sciences, Moscow, Russian Federation; Kobe University, Kobe, Japan; Department of Physics, Kyoto University, Kyoto, Japan; Physics Department, Lancaster University, Lancaster, United Kingdom; Department of Physics, University of Liverpool, Liverpool, United Kingdom; Department of Physics and Astronomy, Louisiana State University, Baton Rouge, LA, United States; Université de Lyon, Université Claude Bernard Lyon 1, IPN Lyon (IN2P3), Villeurbanne, France; Department of Physics, Miyagi University of Education, Sendai, Japan; National Centre for Nuclear Research, Warsaw, Poland; State University of New York at Stony Brook, Stony Brook, NY, United States; Department of Physics and Astronomy, Osaka City University, Department of Physics, Osaka, Japan; Department of Physics, Oxford University, Oxford, United Kingdom; UPMC, Université Paris Diderot, Laboratoire de Physique Nucléaire et de Hautes Energies (LPNHE), Paris, France; Department of Physics and Astronomy, University of Pittsburgh, Pittsburgh, PA, United States; School of Physics, Queen Mary University of London, London, United Kingdom; Department of Physics, University of Regina, Regina, SK, Canada; Department of Physics and Astronomy, University of Rochester, Rochester, NY, United States; III. Physikalisches Institut, RWTH Aachen University, Aachen, Germany; Department of Physics and Astronomy, Seoul National University, Seoul, South Korea; Department of Physics and Astronomy, University of Sheffield, Sheffield, United Kingdom; University of Silesia, Institute of Physics, Katowice, Poland; STFC, Rutherford Appleton Laboratory, Harwell Oxford, Warrington, United Kingdom; Department of Physics, University of Tokyo, Tokyo, Japan; Institute for Cosmic Ray Research, Kamioka Observatory, University of Tokyo, Kamioka, Japan; Institute for Cosmic Ray Research, Research Center for Cosmic Neutrinos, University of Tokyo, Kashiwa, Japan; Department of Physics, University of Toronto, Toronto, ON, Canada; TRIUMF, Vancouver, BC, Canada; Department of Physics and Astronomy, University of Victoria, Victoria, BC, Canada; Faculty of Physics, University of Warsaw, Warsaw, Poland; Institute of Radioelectronics, Warsaw University of Technology, Warsaw, Poland; Department of Physics, University of Warwick, Coventry, United Kingdom; Department of Physics, University of Washington, Seattle, WA, United States; Department of Physics, University of Winnipeg, Winnipeg, MB, Canada; Faculty of Physics and Astronomy, Wroclaw University, Wroclaw, Poland; Department of Physics and Astronomy, York University, Toronto, ON, Canada references: Astier, P., (2003) Nucl. Instrum. Methods Phys. Res., Sect. A, 515, p. 800. , (NOMAD Collaboration), NIMAER 0168-9002 10.1016/j.nima.2003.07.054; Ahn, M., (2006) Phys. Rev. D, 74, p. 072003. , (K2K Collaboration), PRVDAQ 1550-7998 10.1103/PhysRevD.74.072003; Adamson, P., (2008) Phys. Rev. D, 77, p. 072002. , (MINOS Collaboration), PRVDAQ 1550-7998 10.1103/PhysRevD.77.072002; Aguilar-Arevalo, A., (2009) Phys. Rev. D, 79, p. 072002. , (MiniBooNE Collaboration), PRVDAQ 1550-7998 10.1103/PhysRevD.79.072002; (2003) Letter of Intent: Neutrino Oscillation Experiment at JHF, , http://neutrino.kek.jp/jhfnu/loi/loi_JHFcor.pdf, T2K Collaboration; Abe, K., (2011) Nucl. Instrum. Methods Phys. Res., Sect. A, 659, p. 106. , (T2K Collaboration), NIMAER 0168-9002 10.1016/j.nima.2011.06.067; Abe, K., (2011) Phys. Rev. Lett., 107, p. 041801. , (T2K Collaboration), PRLTAO 0031-9007 10.1103/PhysRevLett.107.041801; Abe, K., (2012) Phys. Rev. D, 85, p. 031103. , (T2K Collaboration), PRVDAQ 1550-7998 10.1103/PhysRevD.85.031103; Fukuda, Y., (2003) Nucl. Instrum. Methods Phys. Res., Sect. A, 501, p. 418. , NIMAER 0168-9002 10.1016/S0168-9002(03)00425-X; Beavis, D., Carroll, A., Chiang, I., (1995), Physics Design Report, BNL 52459Abgrall, N., (2011) Phys. Rev. C, 84, p. 034604. , (NA61/SHINE Collaboration), PRVCAN 0556-2813 10.1103/PhysRevC.84.034604; Abgrall, N., (2012) Phys. Rev. C, 85, p. 035210. , (NA61/SHINE Collaboration), PRVCAN 0556-2813 10.1103/PhysRevC.85.035210; Bhadra, S., (2013) Nucl. Instrum. Methods Phys. Res., Sect. A, 703, p. 45. , NIMAER 0168-9002 10.1016/j.nima.2012.11.044; Van Der Meer, S., Report No. CERN-61-07Palmer, R., Report No. CERN-65-32, 141Ichikawa, A., (2012) Nucl. Instrum. Methods Phys. Res., Sect. A, 690, p. 27. , NIMAER 0168-9002 10.1016/j.nima.2012.06.045; Matsuoka, K., (2010) Nucl. Instrum. Methods Phys. Res., Sect. A, 624, p. 591. , NIMAER 0168-9002 10.1016/j.nima.2010.09.074; Abe, K., (2012) Nucl. Instrum. Methods Phys. Res., Sect. A, 694, p. 211. , (T2K Collaboration), NIMAER 0168-9002 10.1016/j.nima.2012.03.023; Abgrall, N., (2011) Nucl. Instrum. Methods Phys. Res., Sect. A, 637, p. 25. , (T2K ND280 TPC Collaboration), NIMAER 0168-9002 10.1016/j.nima.2011.02. 036; Amaudruz, P.-A., (2012) Nucl. Instrum. Methods Phys. Res., Sect. A, 696, p. 1. , (T2K ND280 FGD Collaboration), NIMAER 0168-9002 10.1016/j.nima.2012.08. 020; Battistoni, G., Cerutti, F., Fasso, A., Ferrari, A., Muraro, S., Ranft, J., Roesler, S., Sala, P.R., (2007) AIP Conf. Proc., 896, p. 31. , APCPCS 0094-243X 10.1063/1.2720455; A. Ferrari, P. R. Sala, A. Fasso, and J. Ranft, Report No. CERN-2005-010A. Ferrari P. R. Sala A. Fasso J. Ranft Report No. SLAC-R-773A. Ferrari P. R. Sala A. Fasso J. Ranft Report No. INFN-TC-05-11R. Brun, F. Carminati, and S. Giani, Report No. CERN-W5013Zeitnitz, C., Gabriel, T.A., (1993) Proceedings of International Conference on Calorimetry in High Energy Physics, , in Elsevier Science B.V., Tallahassee, FL; Fasso, A., Ferrari, A., Ranft, J., Sala, P.R., Proceedings of the International Conference on Calorimetry in High Energy Physics, 1994, , in; Beringer, J., (2012) Phys. Rev. D, 86, p. 010001. , (Particle Data Group), PRVDAQ 1550-7998 10.1103/PhysRevD.86.010001; Eichten, T., (1972) Nucl. Phys. B, 44, p. 333. , NUPBBO 0550-3213 10.1016/0550-3213(72)90120-4; Allaby, J.V., Tech. Rep. 70-12 (CERN, 1970)Chemakin, I., (2008) Phys. Rev. C, 77, p. 015209. , PRVCAN 0556-2813 10.1103/PhysRevC.77.015209; Abrams, R.J., Cool, R., Giacomelli, G., Kycia, T., Leontic, B., Li, K., Michael, D., (1970) Phys. Rev. D, 1, p. 1917. , PRVDAQ 0556-2821 10.1103/PhysRevD.1.1917; Allaby, J.V., (1970) Yad. Fiz., 12, p. 538. , IDFZA7 0044-0027; Allaby, J.V., (1969) Phys. Lett. B, 30, p. 500. , PYLBAJ 0370-2693 10.1016/0370-2693(69)90184-1; Allardyce, B.W., (1973) Nucl. Phys. A, 209, p. 1. , NUPABL 0375-9474 10.1016/0375-9474(73)90049-3; Bellettini, G., Cocconi, G., Diddens, A.N., Lillethun, E., Matthiae, G., Scanlon, J.P., Wetherell, A.M., (1966) Nucl. Phys., 79, p. 609. , NUPHA7 0029-5582 10.1016/0029-5582(66)90267-7; Bobchenko, B.M., (1979) Sov. J. Nucl. Phys., 30, p. 805. , SJNCAS 0038-5506; Carroll, A.S., (1979) Phys. Lett. B, 80, p. 319. , PYLBAJ 0370-2693 10.1016/0370-2693(79)90226-0; Cronin, J.W., Cool, R., Abashian, A., (1957) Phys. Rev., 107, p. 1121. , PHRVAO 0031-899X 10.1103/PhysRev.107.1121; Chen, F.F., Leavitt, C., Shapiro, A., (1955) Phys. Rev., 99, p. 857. , PHRVAO 0031-899X 10.1103/PhysRev.99.857; Denisov, S.P., Donskov, S.V., Gorin, Yu.P., Krasnokutsky, R.N., Petrukhin, A.I., Prokoshkin, Yu.D., Stoyanova, D.A., (1973) Nucl. Phys. B, 61, p. 62. , NUPBBO 0550-3213 10.1016/0550-3213(73)90351-9; Longo, M.J., Moyer, B.J., (1962) Phys. Rev., 125, p. 701. , PHRVAO 0031-899X 10.1103/PhysRev.125.701; Vlasov, A.V., (1978) Sov. J. Nucl. Phys., 27, p. 222. , SJNCAS 0038-5506; Feynman, R., (1969) Phys. Rev. Lett., 23, p. 1415. , PRLTAO 0031-9007 10.1103/PhysRevLett.23.1415; Bonesini, M., Marchionni, A., Pietropaolo, F., Tabarelli De Fatis, T., (2001) Eur. Phys. J. C, 20, p. 13. , EPCFFB 1434-6044 10.1007/s100520100656; Barton, D.S., (1983) Phys. Rev. D, 27, p. 2580. , PRVDAQ 0556-2821 10.1103/PhysRevD.27.2580; Skubic, P., (1978) Phys. Rev. D, 18, p. 3115. , PRVDAQ 0556-2821 10.1103/PhysRevD.18.3115; Feynman, R.P., (1972) Photon-Hadron Interactions, , Benjamin, New York; Bjorken, J.D., Paschos, E.A., (1969) Phys. Rev., 185, p. 1975. , PHRVAO 0031-899X 10.1103/PhysRev.185.1975; Taylor, F.E., Carey, D., Johnson, J., Kammerud, R., Ritchie, D., Roberts, A., Sauer, J., Walker, J., (1976) Phys. Rev. D, 14, p. 1217. , PRVDAQ 0556-2821 10.1103/PhysRevD.14.1217; Abgrall, N., (2013) Nucl. Instrum. Methods Phys. Res., Sect. A, 701, p. 99. , NIMAER 0168-9002 10.1016/j.nima.2012.10.079; Hayato, Y., (2002) Nucl. Phys. B, Proc. Suppl., 112, p. 171. , NPBSE7 0920-5632 10.1016/S0920-5632(02)01759-0 correspondence_address1: Abe, K.; Institute for Cosmic Ray Research, Kamioka Observatory, University of Tokyo, Kamioka, Japan coden: PRVDA abbrev_source_title: Phys Rev D Part Fields Gravit Cosmol document_type: Article source: Scopu

First muon-neutrino disappearance study with an off-axis beam

We report a measurement of muon-neutrino disappearance in the T2K experiment. The 295-km muon-neutrino beam from Tokai to Kamioka is the first implementation of the off-axis technique in a long-baseline neutrino oscillation experiment

Evidence of electron neutrino appearance in a muon neutrino beam

The T2K collaboration reports evidence for electron neutrino appearance at the atmospheric mass splitting, |\Delta m_{32}^2|=2.4x10^{-3} eV^2. An excess of electron neutrino interactions over background is observed from a muon neutrino beam with a peak energy of 0.6 GeV at the Super-Kamiokande (SK) detector 295 km from the beam's origin. Signal and background predictions are constrained by data from near detectors located 280 m from the neutrino production target. We observe 11 electron neutrino candidate events at the SK detector when a background of 3.3\pm0.4(syst.) events is expected. The background-only hypothesis is rejected with a p-value of 0.0009 (3.1\sigma), and a fit assuming \nu_{\mu}->\nu_e oscillations with sin^2(2\theta_{23})=1, \delta_{CP}=0 and |\Delta m_{32}^2|=2.4x10^{-3} eV^2 yields sin^2(2\theta_{13})=0.088^{+0.049}_{-0.039}(stat.+syst.)

Risk and the welfare state

The British welfare state developed as a state-centred response to the problem of handling the risks encountered in a typical life-course. The influential work of Giddens and others implies that the traditional welfare state is under attack from two directions: a changing international politico-economic environment limits the freedom of national governments to pursue independent policies involving relatively high taxation to finance social spending. At the same time, changes in the experience of risk and declining confidence in the expertise of welfare state planners and professionals undermine support for state-centred solutions. This approach fails to acknowledge that available non-state services are often inadequate to meet many everyday life risks and that the authority of private sector advisers, insurers and professionals is also increasingly open to question. This article discusses whether people reject welfare state solutions to problems of risk in the context of research on the perceptions and behaviour of people buying or selling their homes, considering provision for long-term care needs and defrauding social security carried out by the ESRC's Economic Beliefs and Behaviour programme. Individual responses endorse the continued provision of state welfare in order to meet unprovided risks alongside disenchantment with the record of both state and private professionals and planners and awareness that state retrenchment requires greater individual responsibility for meeting one's own needs. The theory of risk society requires development to recognize that citizens are not necessarily alienated from state welfare

Measurement of the inclusive <em>ν_μ</em> charged current cross section on carbon in the near detector of the T2K experiment

T2K has performed the first measurement of νμ inclusive charged current interactions on carbon at neutrino energies of ∼1  GeV where the measurement is reported as a flux-averaged double differential cross section in muon momentum and angle. The flux is predicted by the beam Monte Carlo and external data, including the results from the NA61/SHINE experiment. The data used for this measurement were taken in 2010 and 2011, with a total of 10.8×1019 protons-on-target. The analysis is performed on 4485 inclusive charged current interaction candidates selected in the most upstream fine-grained scintillator detector of the near detector. The flux-averaged total cross section is ⟨σCC⟩ϕ=(6.91±0.13(stat)±0.84(syst))×10−39  cm2nucleon for a mean neutrino energy of 0.85 GeV