Symptoms of Autism Spectrum Disorder (ASD) in individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): a systematic review

The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments

VLTI/AMBER spectro-interferometry of the late-type supergiants V766 Cen (=HR 5171 A), sigma Oph, BM Sco, and HD 206859

We add four warmer late-type supergiants to our previous spectro-interferometric studies of red giants and supergiants. V766 Cen (=HR 5171 A) is found to be a high-luminosity log(L/L_sun)=5.8+-0.4 source of Teff 4290+-760 K and radius 1490+-540 Rsun located close to both the Hayashi and Eddington limits; this source is consistent with a 40 Msun evolutionary track without rotation and current mass 27-36 Msun. It exhibits NaI in emission arising from a shell of radius 1.5 Rphot and a photocenter displacement of about 0.1 Rphot. V766 Cen shows strong extended molecular (CO) layers and a dusty circumstellar background component. This suggest an optically thick pseudo-photosphere at about 1.5 Rphot at the onset of the wind. V766 Cen is a red supergiant located close to the Hayashi limit instead of a yellow hypergiant already evolving back toward warmer Teff as previously discussed. The stars sigma Oph, BM Sco, and HD 206859 are found to have lower luminosities of about log(L/Lsun)=3.4-3.5 and Teff of 3900-5300 K, corresponding to 5-9 Msun tracks. They do not show extended molecular layers as observed for higher luminosity red supergiants of our sample. BM Sco shows an unusually strong contribution by an over-resolved circumstellar dust component. These stars are more likely high-mass red giants instead of red supergiants. This leaves us with an unsampled locus in the HR diagram corresponding to luminosities log(L/Lsun)~3.8-4.8 or masses 10-13 Msun, possibly corresponding to the mass region where stars explode as type II-P supernovae during the RSG stage. Our previously found relation of increasing strength of extended molecular layers with increasing luminosities is now confirmed to extend to double our previous luminosities and up to the Eddington limit. This might further point to steadily increasing radiative winds with increasing luminosity. [Abridged]Comment: 16 pages, 14 figures, accepted for publication in Astronomy and Astrophysics (A&A

Tests of stellar model atmospheres by optical interferometry III: NPOI and VINCI interferometry of the M0 giant gamma Sge covering 0.5 - 2.2 microns

Aims: We present a comparison of the visual and NIR intensity profile of the M0 giant gamma Sagittae to plane-parallel ATLAS 9 as well as to plane-parallel & spherical PHOENIX model atmospheres. Methods: We use previously described visual interferometric data obtained with the NPOI in July 2000. We apply the recently developed technique of coherent integration, and thereby obtain visibility data of more spectral channels and with higher precision than before. In addition, we employ new measurements of the K-band diameter of gamma Sagittae obtained with the instrument VINCI at the VLTI in 2002. Results: The spherical PHOENIX model leads to a precise definition of the Rosseland angular diameter and a consistent high-precision diameter value for our NPOI and VLTI/VINCI data sets of Theta_Ross=6.06 pm 0.02 mas, with the Hipparcos parallax corresponding to R_Ross=55 pm 4 R_sun, and with the bolometric flux corresponding to an effective temperature T_eff=3805 pm 55 K. Our visual visibility data close to the first minimum and in the second lobe constrain the limb-darkening effect and are generally consistent with the model atmosphere predictions. The visual closure phases exhibit a smooth transition between 0 and pi. Conclusions: The agreement between the NPOI and VINCI diameter values increases the confidence in the model atmosphere predictions from optical to NIR wavelengths as well as in the calibration and accuracy of both interferometric facilities. The consistent night-by-night diameter values of VINCI give additional confidence in the given uncertainties. The closure phases suggest a slight deviation from circular symmetry, which may be due to surface features, an asymmetric extended layer, or a faint unknown companion.Comment: 12 pages, 9 figures, accepted by A&A. Also available from http://www.aanda.org/articles/aa/pdf/forth/aa5853_06.pd

Silicon isotopic abundance toward evolved stars and its application for presolar grains

Galactic chemical evolution (GCE) is important for understanding the composition of the present-day interstellar medium (ISM) and of our solar system. In this paper, we aim to track the GCE by using the 29Si/30Si ratios in evolved stars and tentatively relate this to presolar grain composition. We used the APEX telescope to detect thermal SiO isotopologue emission toward four oxygen-rich M-type stars. Together with the data retrieved from the Herschel science archive and from the literature, we were able to obtain the 29Si/30Si ratios for a total of 15 evolved stars inferred from their optically thin 29SiO and 30SiO emission. These stars cover a range of masses and ages, and because they do not significantly alter 29Si/30Si during their lifetimes, they provide excellent probes of the ISM metallicity (or 29Si/30Si ratio) as a function of time. The 29Si/30Si ratios inferred from the thermal SiO emission tend to be lower toward low-mass oxygen-rich stars (e.g., down to about unity for W Hya), and close to an interstellar or solar value of 1.5 for the higher-mass carbon star IRC+10216 and two red supergiants. There is a tentative correlation between the 29Si/30Si ratios and the mass-loss rates of evolved stars, where we take the mass-loss rate as a proxy for the initial stellar mass or current stellar age. This is consistent with the different abundance ratios found in presolar grains. We found that older objects (up to possibly 10 Gyr old) in our sample trace a previous, lower 29Si/30Si value of about 1. Material with this isotopic ratio is present in two subclasses of presolar grains, providing independent evidence of the lower ratio. Therefore, the 29Si/30Si ratio derived from the SiO emission of evolved stars is a useful diagnostic tool for the study of the GCE and presolar grains.Comment: 7 pages, 4 figure

The VLTI/MIDI view on the inner mass loss of evolved stars from the Herschel MESS sample

The mass-loss process from evolved stars is a key ingredient for our understanding of many fields of astrophysics, including stellar evolution and the chemical enrichment of the interstellar medium via stellar yields. One the main unsolved questions is the geometry of the mass-loss process. Taking advantage of the results from the Herschel Mass loss of Evolved StarS (MESS) programme, we initiated a coordinated effort to characterise the geometry of mass loss from evolved red giants at various spatial scales. For this purpose we used the MID-infrared interferometric Instrument (MIDI) to resolve the inner envelope of 14 asymptotic giant branch stars (AGBs) in the MESS sample. In this contribution we present an overview of the interferometric data collected within the frame of our Large Programme, and we also add archive data for completeness. We studied the geometry of the inner atmosphere by comparing the observations with predictions from different geometric models. Asymmetries are detected for five O-rich and S-type, suggesting that asymmetries in the N band are more common among stars with such chemistry. We speculate that this fact is related to the characteristics of the dust grains. Except for one star, no interferometric variability is detected, i.e. the changes in size of the shells of non-mira stars correspond to changes of the visibility of less than 10%. The observed spectral variability confirms previous findings from the literature. The detection of dust in our sample follows the location of the AGBs in the IRAS colour-colour diagram: more dust is detected around oxygen-rich stars in region II and in the carbon stars in region VII. The SiC dust feature does not appear in the visibility spectrum of UAnt and SSct, which are two carbon stars with detached shells. This finding has implications for the theory of SiC dust formation.Comment: 43 pages, 31 figures; accepted for publication in Astronomy & Astrophysics. Abstract shortened for compilation reasons. Metadata correcte

Unexpectedly large mass loss during the thermal pulse cycle of the red giant R Sculptoris!

The asymptotic giant branch star R Sculptoris is surrounded by a detached shell of dust and gas. The shell originates from a thermal pulse during which the star undergoes a brief period of increased mass loss. It has hitherto been impossible to constrain observationally the timescales and mass-loss properties during and after a thermal pulse - parameters that determine the lifetime on the asymptotic giant branch and the amount of elements returned by the star. Here we report observations of CO emission from the circumstellar envelope and shell around R Sculptoris with an angular resolution of 1.3 arcsec. What was hitherto thought to be only a thin, spherical shell with a clumpy structure, is revealed to contain a spiral structure. Spiral structures associated with circumstellar envelopes have been seen previously, from which it was concluded that the systems must be binaries. Using the data, combined with hydrodynamic simulations, we conclude that R Sculptoris is a binary system that underwent a thermal pulse approximately 1800 years ago, lasting approximately 200 years. About 0.003 Msun of mass was ejected at a velocity of 14.3 km s-1 and at a rate approximately 30 times higher than the prepulse mass-loss rate. This shows that approximately 3 times more mass is returned to the interstellar medium during and immediately after a pulse than previously thought.Comment: Accepted by Natur

AMBER observations of the AGB star RS Cap: extended atmosphere and comparison with stellar models

We report on K-band VLTI/AMBER observations at medium spectral resolution ($\sim$1500) of RS Capricorni, an M6/M7III semi-regular AGB star. From the spectrally-dispersed visibilities, we measure the star diameter as a function of observing wavelength from 2.13 to 2.47 microns. We derive a Rosseland angular diameter of $7.95 \pm 0.07$ mas, which corresponds to an effective temperature of $3160 \pm 160$ K. We detect size variations of around 10% in the CO band heads, indicating strong opacity effects of CO in the stellar photosphere. We also detect a linear increase of the size as a function of wavelength, beginning at 2.29 microns. Models of the stellar atmosphere, based on the mass of the star as estimated from stellar-evolution models, predict CO-size effects about half of those observed, and cannot reproduce the linear size increase with wavelength, redward of 2.29 microns. We are able to model this linear size increase with the addition of an extended water-vapor envelope around the star. However, we are not able to fit the data in the CO bandheads. Either the mass of the star is overestimated by the stellar-evolution models and/or there is an additional extended CO envelope in the outer part of the atmosphere. In any case, neither the water-vapor envelope, nor the CO envelope, can be explained using the current models.Comment: 8 pages, 6 figures. Accepted for publication in A&

An original interferometric study of NGC 1068 with VISIR BURST mode images

We present 12.8 microns images of the core of NGC 1068 obtained with the BURST mode of the VLT/VISIR. We trace structures under the diffraction limit of one UT and we investigate the link between dust in the vicinity of the central engine of NGC 1068, recently resolved by interferometry with MIDI, and more extended structures. This step is mandatory for a multi-scale understanding of the sources of mid-infrared emission in AGNs. A speckle processing of VISIR BURST mode images was performed to extract very low spatial-frequency visibilities, first considering the full field of VISIR BURST mode images and then limiting it to the mask used for the acquisition of MIDI data. Extracted visibilities are reproduced with a multi-component model. We identify two major sources of emission: one compact < 85 mas, associated with the dusty torus, and an elliptical one, (< 140) mas x 1187 mas at P.A.=-4 degrees from N to E. This is consistent with previous deconvolution processes. The combination with MIDI data reveals the close environment of the dusty torus to contribute to about 83 percent of the MIR flux seen by MIDI. This strong contribution has to be considered in modeling long baseline interferometric data. It must be related to the NS elongated component which is thought to originate from individually unresolved dusty clouds and is located inside the ionization cone. Low temperatures of the dusty torus are not challenged, emphasizing the scenarios of clumpy torus.Comment: 10 pages, 7 figures, accepted for publication in A&

An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene

Background: Multiple sclerosis (MS) is a complex trait in which genes in the MHC class II region exert the single strongest effect on genetic susceptibility. The principal MHC class II haplotype that increases MS risk in individuals of Northern European descent are those that bear HLA-DRB1*15. However, several other HLA-DRB1 alleles have been positively and negatively associated with MS and each of the main allelotypes is composed of many sub-allelotypes with slightly different sequence composition. Given the role of this locus in antigen presentation it has been suggested that variations in the peptide binding site of the allele may underlie allelic variation in disease risk. Methods: In an investigation of 7,333 individuals from 1,352 MS families, we assessed the nucleotide sequence of HLA-DRB1 for any effects on disease susceptibility extending a recently published method of statistical analysis for family-based association studies to the particular challenges of hyper-variable genetic regions. Results: We found that amino acid 60 of the HLA-DRB1 peptide sequence, which had previously been postulated based on structural features, is unlikely to play a major role. Instead, empirical evidence based on sequence information suggests that MS susceptibility arises primarily from amino acid 13. Conclusion: Identifying a single amino acid as a major risk factor provides major practical implications for risk and for the exploration of mechanisms, although the mechanism of amino acid 13 in the HLA-DRB1 sequence's involvement in MS as well as the identity of additional variants on MHC haplotypes that influence risk need to be uncovered