Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis

BACKGROUND Cognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies differentiating between partial performance disorders and mental retardation in common. This study focused on the evaluation of reading performance and the frequency of dyslexia in adult DM1 patients. METHODS We performed a prospective cohort study including genetically confirmed adult DM1 patients registered in the DM registry of Germany or the internal database of the Friedrich-Baur-Institute, Munich, Germany. For the assessment of the patients' reading and spelling performance, we used the standardized and validated test 'Salzburger Lese- und Rechtschreibtest' (SLRT II). The 'CFT-20 R Grundintelligenztest Skala 2' in revised ("R") version (CFT 20-R), determining the intelligence level, was appropriate to differentiate between dyslexia and general mental retardation. The diagnosis of dyslexia, the combined reading and spelling disorder, was based on the guidelines for diagnosis and therapy of children and adolescents with dyslexia 2015 (S3-guideline) providing (1) the criterion of the divergence from age level and (2) the criterion of IQ-divergence. RESULTS Fifty-seven DM1 patients participated in our study. Evaluating the reading performance, 16 patients fulfilled the divergence criteria of the age level and 2 patients the IQ-divergence criteria. In total, the diagnosis of a reading disorder was given in 18 DM1 patients (31.6 %). In 11 out of these 18 patients with a reading disorder, a relevant impairment of spelling performance was observed with at least three spelling errors. As there are no normative values for adults in spelling performance, we assume a combined reading disorder and dyslexia, in those 11 DM1 patients (19.3 %). Regarding the separate analyses of the test procedures, in the SLRT II the performance was below average in 40.4 % of all patients for 'word reading' and in 61.4 % of all patients for 'pseudoword reading'. There was a significant positive correlation between the CTG expansion size and a reading disorder (p=0.027). The average IQ of 17 examined DM1 patients was in the lower normal range (86.1 ± 19.1). 54.5 % of patients with reading disorder had a normal IQ. CONCLUSION The calculated prevalence of dyslexia in the DM1 study cohort was 19.3 % and thus considerably increased compared to the normal German population. As dyslexia is not equivalent to a general cognitive impairment, it is important not to miss dyslexic features in cognitive inconspicuous DM1 patients. Case-by-case one should consider a differential diagnostic approach, as individualized therapies can be offered to support dyslexic patients in their performance

Closed orbit feed-back from low-β\beta quadrupole movements at LEP

Left and right of each of the four LEP interaction points superconducting low-beta quadrupole magnets are installed to squeeze the vertical beam size at the interaction points. These magnets are the dominant source of vertical closed orbit drifts at LEP because of their strength, the large vertical beta function and their support. Hydrostatic Levelling Systems and resistor-based position sensors were installed to measure the vertical movements of these magnets continuously. The correlation between the mechanical movements and closed orbit variations has been studied. The analysis has shown that the orbit can be kept stable by acting on one correction dipole per low-beta quadrupole pair. This has led to a feed-back system which uses the mechanical measurements to correct the closed orbit and to prevent large orbit variations

Determination of the Chromaticity of the TI 8 Transfer Line Based on Kick Response Measurements

The 3 km long TI 8 transfer line is used to transfer 450 GeV proton and ion beams from the SPS to LHC collider. As part of a detailed optics investigation program the chromaticity of the transfer line was measured. Kick response data of the transfer line was recorded for various extraction energy offsets in the SPS. The quadrupolar and sextupolar field errors (b2 and b3, respectively) over the whole transfer line dipoles, a systematic error of the main quadrupole strengths and the initial momentum error were estimated by a fit. Using the updated model, the chromaticity of the line was then calculated

Trim Magnet Polarities, Dispersion, and Response Data in Sector 23

During the first LHC injection test, on 10 August 2008, the horizontal dispersion measured with beam 1 at the end of Sector 23 differed from the model prediction close to point 3. Beam-based polarity checks performed during the same period indicated an inversion of the trim quadrupole QTL11.R2. Combined with other evidence, like electrical drawings and earlier Hall-probe measurements of warm magnets, this gave rise to the hypothesis of a systematic error. Indeed a model inversion of all trim quadrupoles (QT or QTL) attached to a defocusing main quadrupole (actually the odd-numbered trim quadrupoles in Sector 23) reproduced the dispersion measurement. An analysis of kick-response measurements independently revealed an optics error left of point 3, and confirmed the inversion of the odd-numbered trim quadrupoles in this sector. After changing the polarity of the suspected set of quadrupoles prior to the second injection test on August 24, the measured dispersion nicely traced the model prediction

Design of beam optics for the Future Circular Collider e+e- -collider rings

A beam optics scheme has been designed for the Future Circular Collider-e+e- (FCC-ee). The main characteristics of the design are: beam energy 45 to 175 GeV, 100 km circumference with two interaction points (IPs) per ring, horizontal crossing angle of 30 mrad at the IP and the crab-waist scheme [1] with local chromaticity correction. The crab-waist scheme is implemented within the local chromaticity correction system without additional sextupoles, by reducing the strength of one of the two sextupoles for vertical chromatic correction at each side of the IP. So-called "tapering" of the magnets is applied, which scales all fields of the magnets according to the local beam energy to compensate for the effect of synchrotron radiation (SR) loss along the ring. An asymmetric layout near the interaction region reduces the critical energy of SR photons on the incoming side of the IP to values below 100 keV, while matching the geometry to the beam line of the FCC proton collider (FCC-hh) [2] as closely as possible. Sufficient transverse/longitudinal dynamic aperture (DA) has been obtained, including major dynamical effects, to assure an adequate beam lifetime in the presence of beamstrahlung and top-up injection. In particular, a momentum acceptance larger than +/-2% has been obtained, which is better than the momentum acceptance of typical collider rings by about a factor of 2. The effects of the detector solenoids including their compensation elements are taken into account as well as synchrotron radiation in all magnets. The optics presented in this paper is a step toward a full conceptual design for the collider. A number of issues have been identified for further study

Machine studies during beam commissioning of the SPS-to-LHC transfer lines

Through May to September 2008, further beam commissioning of the SPS-to-LHC transfer lines was performed. For the first time, optics and dispersion measurements were also taken in the last part of the lines, and into the LHC. Extensive trajectory and optics studies were conducted, in parallel with hardware checks. In particular dispersion measurements and their comparison with the beam line model were analysed in detail and led to propose the addition of a dispersion-free steering algorithm in the existing trajectory correction program. Its effectiveness was simulated and is briefly discussed

First Year Physics at CNGS, presented at PAC09, Vancouver, Canada, 4-8 May 2009

The CNGS facility (CERN Neutrinos to Gran Sasso) aims at directly detecting νμ→ντ neutrino oscillations [1]. An intense νμ beam (1017 νμ per day) is generated at CERN and directed over 732 km towards the Gran Sasso National Laboratory, LNGS, in Italy, where two large and complex detectors, OPERA and ICARUS, are located. Having resolved successfully some initial issues that occurred since its commissioning in 2006, that will be briefly summarized here, the facility had its first complete year of physics with 1.78×10^19 protons extracted towards CNGS. The experiences gained in operating this 500 kW neutrino beam facility along with highlights of the beamperformance in 2008 are discussed