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118 results on '"Mcconachie P."'

1. A confirmed deficit of hot and cold dust emission in the most luminous Little Red Dots

Author

Setton, David J., Greene, Jenny E., Spilker, Justin S., Williams, Christina C., Labbe, Ivo, Ma, Yilun, Wang, Bingjie, Whitaker, Katherine E., Leja, Joel, de Graaff, Anna, Alberts, Stacey, Bezanson, Rachel, Boogaard, Leindert A., Brammer, Gabriel, Cutler, Sam E., Cleri, Nikko J., Cooper, Olivia R., Dayal, Pratika, Fujimoto, Seiji, Furtak, Lukas J., Goulding, Andy D., Hirschmann, Michaela, Kokorev, Vasily, Maseda, Michael V., McConachie, Ian, Matthee, Jorryt, Miller, Tim B., Naidu, Rohan P., Oesch, Pascal A., Pan, Richard, Price, Sedona H., Suess, Katherine A., Weaver, John R., Xiao, Mengyuan, Zhang, Yunchong, and Zitrin, Adi

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

Luminous broad H$\alpha$ emission and red rest-optical SEDs are the hallmark of compact Little Red Dots (LRDs), implying highly attenuated dusty starbursts and/or obscured active galactic nuclei. However, the lack of observed FIR emission has proved difficult to reconcile with the implied attenuated luminosity in these models. Here, we utilize deep new ALMA imaging, new and existing JWST/MIRI imaging, and archival Spitzer/Herschel imaging of two of the rest-optically brightest LRDs ($z=3.1$ and $z=4.47$) to place the strongest constraints on the IR luminosity in LRDs to date. The detections at $\lambda_\mathrm{rest}=1-4 \ \mu$m imply flat slopes in the rest-IR, ruling out a contribution from hot ($T\gtrsim500$ K) dust. Similarly, FIR non-detections rule out any appreciable cold ($T\lesssim75$ K) dust component. Assuming energy balance, these observations are inconsistent with the typical FIR dust emission of dusty starbursts and quasar torii, which usually show a mixture of cold and hot dust. Additionally, our [$\mathrm{C}_{II}$] non-detections rule out typical dusty starbursts. We compute empirical maximum IR SEDs and find that both LRDs must have $\log(L_\mathrm{IR}/L_\odot) \lesssim 12.2$ at the $3\sigma$ level. These limits are in tension with the predictions of rest-optical spectrophotometric fits, be they galaxy only, AGN only, or composite. It is unlikely that LRDs are highly dust-reddened intrinsically blue sources with a dust temperature distribution that conspires to avoid current observing facilities. Rather, we favor an intrinsically redder LRD SED model that alleviates the need for strong dust attenuation., Comment: 16 pages, 5 figures, 3 tables. Submitted to ApJ Letters. Comments welcome!

Published
2025

2. MAGAZ3NE: Evidence for Galactic Conformity in $z\gtrsim3$ Protoclusters

Author

McConachie, Ian, Wilson, Gillian, Forrest, Ben, Marsan, Z. Cemile, Muzzin, Adam, Cooper, M. C., Annunziatella, Marianna, Marchesini, Danilo, Gomez, Percy, Chang, Wenjun, Stawinski, Stephanie M. Urbano, McDonald, Michael, Webb, Tracy, Noble, Allison, Lemaux, Brian C., Shah, Ekta A., Staab, Priti, Lubin, Lori M., and Gal, Roy R.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We examine the quiescent fractions of massive galaxies in six $z\gtrsim3$ spectroscopically-confirmed protoclusters in the COSMOS field, one of which is newly confirmed and presented here. We report the spectroscopic confirmation of MAGAZ3NE~J100143+023021 at $z=3.122^{+0.007}_{-0.004}$ by the Massive Ancient Galaxies At $z>3$ NEar-infrared (MAGAZ3NE) survey. MAGAZ3NE~J100143+023021 contains a total of 79 protocluster members (28 spectroscopic and 51 photometric). Three spectroscopically-confirmed members are star-forming ultra-massive galaxies ($\log(M_{\star}/{\rm M}_\odot)>11$; UMGs), the most massive of which has $\log(M_{\star}/{\rm M}_\odot)=11.15^{+0.05}_{-0.06}$. Combining Keck/MOSFIRE spectroscopy and the COSMOS2020 photometric catalog, we use a weighted Gaussian kernel density estimator to map the protocluster and measure its total mass $2.25^{+1.55}_{-0.65}\times10^{14}~{\rm M}_{\odot}$ in the dense ``core'' region. For each of the six COSMOS protoclusters, we compare the quiescent fraction to the status of the central UMG as star-forming or quiescent. We observe that galaxies in these protoclusters appear to obey galactic conformity: elevated quiescent fractions are found in protoclusters with $UVJ$ quiescent UMGs and low quiescent fractions are found in protoclusters containing $UVJ$ star-forming UMGs. This correlation of star-formation/quiescence in UMGs and the massive galaxies nearby in these protoclusters is the first evidence for the existence of galactic conformity at $z>3$. Despite disagreements over mechanisms behind conformity at low redshifts, its presence at these early cosmic times would provide strong constraints on the physics proposed to drive galactic conformity., Comment: 6 figures, 5 tables. Accepted for publication in the Astrophysical Journal

Published
2024

3. Little Red Dots at an Inflection Point: Ubiquitous 'V-Shaped' Turnover Consistently Occurs at the Balmer Limit

Author

Setton, David J., Greene, Jenny E., de Graaff, Anna, Ma, Yilun, Leja, Joel, Matthee, Jorryt, Bezanson, Rachel, Boogaard, Leindert A., Cleri, Nikko J., Katz, Harley, Labbe, Ivo, Maseda, Michael V., McConachie, Ian, Miller, Tim B., Price, Sedona H., Suess, Katherine A., van Dokkum, Pieter, Wang, Bingjie, Weibel, Andrea, Whitaker, Katherine E., and Williams, Christina C.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

Among the most puzzling early discoveries of JWST are "Little Red Dots" -- compact red sources that host broad Balmer emission lines and, in many cases, exhibit a "V shaped" change in slope in the rest-optical. The physical properties of Little Red Dots currently have order-of-magnitude uncertainties, because models to explain the continuum of these sources differ immensely. Here, we leverage the complete selection of red sources in the RUBIES program, supplemented with public PRISM spectra, to study the origin of this "V shape". By fitting a broken power law with a flexible inflection point, we find that a large fraction (20/44, nearly all spatially unresolved) of extremely red H$\alpha$ emitters at $2

Published
2024

4. RUBIES: JWST/NIRSpec resolves evolutionary phases of dusty star-forming galaxies at $z\sim2$

Author

Cooper, Olivia R., Brammer, Gabriel, Heintz, Kasper E., Toft, Sune, Casey, Caitlin M., Setton, David J., de Graaff, Anna, Boogaard, Leindert, Cleri, Nikko J., Gillman, Steven, Gottumukkala, Rashmi, Greene, Jenny E., Gullberg, Bitten, Hirschmann, Michaela, Hviding, Raphael E., Lambrides, Erini, Leja, Joel, Long, Arianna S., Manning, Sinclaire M., Maseda, Michael V., McConachie, Ian, McKinney, Jed, Narayanan, Desika, Price, Sedona H., Strait, Victoria, Weibel, Andrea, and Williams, Christina C.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

The dearth of high quality spectroscopy of dusty star-forming galaxies (DSFGs) -- the main drivers of the assembly of dust and stellar mass at the peak of activity in the Universe -- greatly hinders our ability to interpret their physical processes and evolutionary pathways. We present JWST/NIRSpec observations from RUBIES of four submillimeter-selected, ALMA-detected DSFGs at cosmic noon, $z\sim2.3-2.7$. While photometry uniformly suggests vigorous ongoing star formation for the entire sample in line with canonical DSFGs, the spectra differ: one source has spectroscopic evidence of an evolved stellar population, indicating a recent transition to a post-starburst phase, while the remainder show strong spectroscopic signatures of ongoing starbursts. All four galaxies are infrared-luminous (log$_{10}$$L_{\rm{IR}}$/L$_{\rm \odot}$ $>12.4$), massive (log$_{10}\,M_\star$/M$_{\rm \odot}$ $>11$), and very dust-obscured ($A_V\sim3-4$ ABmag). Leveraging detections of multiple Balmer and Paschen lines, we derive an optical attenuation curve consistent with Calzetti overall, yet an optical extinction ratio $R_V\sim2.5$, potentially indicating smaller dust grains or differences in star-dust geometry. This case study provides some of the first detailed spectroscopic evidence that the DSFGs encompass a heterogeneous sample spanning a range of star formation properties and evolutionary stages, and illustrates the advantages of synergistic JWST and ALMA analysis of DSFGs., Comment: 20 pages, 4 figures; submitted to ApJ

Published
2024

5. RUBIES: a complete census of the bright and red distant Universe with JWST/NIRSpec

Author

de Graaff, Anna, Brammer, Gabriel, Weibel, Andrea, Lewis, Zach, Maseda, Michael V., Oesch, Pascal A., Bezanson, Rachel, Boogaard, Leindert A., Cleri, Nikko J., Cooper, Olivia R., Gottumukkala, Rashmi, Greene, Jenny E., Hirschmann, Michaela, Hviding, Raphael E., Katz, Harley, Labbé, Ivo, Leja, Joel, Matthee, Jorryt, McConachie, Ian, Miller, Tim B., Naidu, Rohan P., Price, Sedona H., Rix, Hans-Walter, Setton, David J., Suess, Katherine A., Wang, Bingjie, Whitaker, Katherine E., and Williams, Christina C.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present the Red Unknowns: Bright Infrared Extragalactic Survey (RUBIES), providing JWST/NIRSpec spectroscopy of red sources selected across ~150 arcmin$^2$ from public JWST/NIRCam imaging in the UDS and EGS fields. RUBIES novel observing strategy offers a well-quantified selection function: the survey is optimised to reach high (>70%) completeness for bright and red (F150W-F444W>2) sources that are very rare. To place these rare sources in context, we simultaneously observe a reference sample of the 23$ using only the G395M disperser. The RUBIES data reveal a highly diverse population of red sources that span a broad redshift range ($z_{spec}\sim1-9$), with photometric redshift scatter and outlier fraction that are 3 times higher than for similarly bright sources that are less red. This diversity is not apparent from the photometric SEDs. Only spectroscopy reveals that the SEDs encompass a mixture of galaxies with dust-obscured star formation, extreme line emission, a lack of star formation indicating early quenching, and luminous active galactic nuclei. As a first demonstration of our broader selection function we compare the stellar masses and rest-frame U-V colours of the red sources and our reference sample: red sources are typically more massive ($M_*\sim10^{10-11.5} M_\odot$) across all redshifts. However, we find that the most massive systems span a wide range in U-V colour. We describe our data reduction procedure and data quality, and publicly release the reduced RUBIES data and vetted spectroscopic redshifts of the first half of the survey through the DJA., Comment: 21 pages, 16 figures; submitted to A&A

Published
2024

6. RUBIES Reveals a Massive Quiescent Galaxy at z=7.3

Author

Weibel, Andrea, de Graaff, Anna, Setton, David J., Miller, Tim B., Oesch, Pascal A., Brammer, Gabriel, Lagos, Claudia D. P., Whitaker, Katherine E., Williams, Christina C., Baggen, Josephine F. W., Bezanson, Rachel, Boogaard, Leindert A., Cleri, Nikko J., Greene, Jenny E., Hirschmann, Michaela, Hviding, Raphael E., Kuruvanthodi, Adarsh, Labbé, Ivo, Leja, Joel, Maseda, Michael V., Matthee, Jorryt, McConachie, Ian, Naidu, Rohan P., Roberts-Borsani, Guido, Schaerer, Daniel, Suess, Katherine A., Valentino, Francesco, van Dokkum, Pieter, and Wang, Bingjie

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We report the spectroscopic discovery of a massive quiescent galaxy at $z_{\rm spec}=7.29\pm0.01$, just $\sim700\,$Myr after the Big Bang. RUBIES-UDS-QG-z7 was selected from public JWST/NIRCam and MIRI imaging from the PRIMER survey and observed with JWST/NIRSpec as part of RUBIES. The NIRSpec/PRISM spectrum reveals one of the strongest Balmer breaks observed thus far at $z>6$, no emission lines, but tentative Balmer and Ca absorption features, as well as a Lyman break. Simultaneous modeling of the NIRSpec/PRISM spectrum and NIRCam and MIRI photometry (spanning $0.9-18\,\mu m$) shows that the galaxy formed a stellar mass of log$(M_*/M_\odot)=10.23^{+0.04}_{-0.04}$ before $z\sim8$, and ceased forming stars $50-100\,$Myr prior to the time of observation, resulting in $\log(\rm{sSFR/Gyr}^{-1})<-1$. We measure a small physical size of $209_{-24}^{+33}\,{\rm pc}$, which implies a high stellar mass surface density within the effective radius of $\log(\Sigma_{*,\rm e}/M_\odot\,kpc^{-2})=10.85_{-0.12}^{+0.11}$ comparable to the highest densities measured in quiescent galaxies at $z\sim2-5$. The 3D stellar mass density profile of RUBIES-UDS-QG-z7 is remarkably similar to the central densities of local massive ellipticals, suggesting that at least some of their cores may have already been in place at $z>7$. The discovery of RUBIES-UDS-QG-z7 has strong implications for galaxy formation models: the estimated number density of quiescent galaxies at $z\sim7$ is $>100\times$ larger than predicted from any model to date, indicating that quiescent galaxies have formed earlier than previously expected., Comment: 22 pages, 8 figures, accepted for publication in ApJ

Published
2024

7. Environmental Effects on the Stellar Mass Function in a z~3.3 Overdensity of Galaxies in the COSMOS Field

Author

Forrest, Ben, Lemaux, Brian C., Shah, Ekta A., Staab, Priti, Gal, Roy R., Lubin, Lori M., Cooper, M. C., Cucciati, Olga, Hung, Denise, McConachie, Ian, Muzzin, Adam, Wilson, Gillian, Bardelli, Sandro, Cassarà, Letizia P., Chang, Wenjun, Giddings, Finn, Golden-Marx, Emmet, Hathi, Nimish, Stawinski, Stephanie M. Urbano, and Zucca, Elena

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present an analysis of the number density of galaxies as a function of stellar mass (i.e., the stellar mass function, SMF) in the COSMOS field at z~3.3, making a comparison between the SMF in overdense environments and the SMF in the coeval field. In particular, this region contains the Elent\'ari proto-supercluster, a system of 6 extended overdensities spanning ~70 cMpc on a side. A clear difference is seen in the high-mass slope of these SMFs, with overdense regions showing an increase in the ratio of high-mass galaxies to low-mass galaxies relative to the field, indicating a more rapid build-up of stellar mass in overdense environments. This result qualitatively agrees with analyses of clusters at z~1, though the differences between protocluster and field SMFs at z~3.3 are smaller. While this is consistent with overdensities enhancing the evolution of their member galaxies, potentially through increased merger rates, whether this enhancement begins in protocluster environments or even earlier in group environments is still unclear. Though the measured fractions of quiescent galaxies between the field and overdense environments do not vary significantly, implying that this stellar mass enhancement is ongoing and any starbursts triggered by merger activity have not yet quenched, we note that spectroscopic observations are biased towards star-forming populations, particularly for low-mass galaxies. If mergers are indeed responsible, high resolution imaging of Elent\'ari and similar structures at these early epochs should then reveal increased merger rates relative to the field. Larger samples of well-characterized overdensities are necessary to draw broader conclusions in these areas., Comment: 15 pages, 8 figures, plus references and appendices. Submitted to ApJ, posted after responding to referee comments. Further comments welcome

Published
2024

8. RUBIES: Evolved Stellar Populations with Extended Formation Histories at $z \sim 7-8$ in Candidate Massive Galaxies Identified with JWST/NIRSpec

Author

Wang, Bingjie, Leja, Joel, de Graaff, Anna, Brammer, Gabriel B., Weibel, Andrea, van Dokkum, Pieter, Baggen, Josephine F. W., Suess, Katherine A., Greene, Jenny E., Bezanson, Rachel, Cleri, Nikko J., Hirschmann, Michaela, Labbe, Ivo, Matthee, Jorryt, McConachie, Ian, Naidu, Rohan P., Nelson, Erica, Oesch, Pascal A., Setton, David J., and Williams, Christina C.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

The identification of red, apparently massive galaxies at $z>7$ in early JWST photometry suggests a strongly accelerated timeline compared to standard models of galaxy growth. A major uncertainty in the interpretation is whether the red colors are caused by evolved stellar populations, dust, or other effects such as emission lines or AGN. Here we show that three of the massive galaxy candidates at $z=6.7-8.4$ have prominent Balmer breaks in JWST/NIRSpec spectroscopy from the RUBIES program. The Balmer breaks demonstrate unambiguously that stellar emission dominates at $\lambda_{\rm rest} = 0.4\,\mu$m, and require formation histories extending hundreds of Myr into the past in galaxies only 600--800 Myr after the Big Bang. Two of the three galaxies also show broad Balmer lines, with H$\beta$ FWHM $>2500~{\rm km\,s^{-1}}$, suggesting that dust-reddened AGN contribute to, or even dominate, the SEDs of these galaxies at $\lambda_{\rm rest}\gtrsim 0.6\,\mu$m. All three galaxies have relatively narrow [O III] lines, seemingly ruling out a high-mass interpretation if the lines arise in dynamically-relaxed, inclined disks. Yet, the inferred masses also remain highly uncertain. We model the high-quality spectra using Prospector to decompose the continuum into stellar and AGN components, and explore limiting cases in stellar/AGN contribution. This produces a wide range of possible stellar masses, spanning $M_\star \sim 10^9 - 10^{11}\,{\rm M_{\odot}}$. Nevertheless, all fits suggest a very early and rapid formation, most of which follow with a truncation in star formation. Potential origins and evolutionary tracks for these objects are discussed, from the cores of massive galaxies to low-mass galaxies with over-massive black holes. Intriguingly, we find all of these explanations to be incomplete; deeper and redder data are needed to understand the physics of these systems., Comment: Accepted for publication in ApJL; 20 pages, 10 figures, 1 table

Published
2024
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9. MAGAZ3NE: Massive, Extremely Dusty Galaxies at $z\sim2$ Lead to Photometric Overestimation of Number Densities of the Most Massive Galaxies at $3<z<4$

Author

Forrest, Ben, Cooper, M. C., Muzzin, Adam, Wilson, Gillian, Marchesini, Danilo, McConachie, Ian, Gomez, Percy, Annunziatella, Marianna, Marsan, Z. Cemile, Braspenning, Joey, Chang, Wenjun, de Lucia, Gabriella, Fontanot, Fabio, Hirschmann, Michaela, Nelson, Dylan, Pillepich, Annalisa, Schaye, Joop, Stawinski, Stephanie M. Urbano, Stefanon, Mauro, and Xie, Lizhi

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present rest-frame optical spectra from Keck/MOSFIRE and Keck/NIRES of 16 candidate ultramassive galaxies targeted as part of the Massive Ancient Galaxies at $z>3$ Near-Infrared (MAGAZ3NE) Survey. These candidates were selected to have photometric redshifts $3\lesssim z_{\rm phot}<4$, photometric stellar masses log($M$/M$_\odot$)$>11.7$, and well-sampled photometric spectral energy distributions (SEDs) from the UltraVISTA and VIDEO surveys. In contrast to previous spectroscopic observations of blue star-forming and post-starburst ultramassive galaxies, candidates in this sample have very red SEDs implying significant dust attenuation, old stellar ages, and/or active galactic nuclei (AGN). Of these galaxies, eight are revealed to be heavily dust-obscured $2.03$, one is a $z\sim1.2$ dusty galaxy, and four galaxies do not have a confirmed spectroscopic redshift. In fact, none of the sample has |$z_{\rm spec}-z_{\rm phot}$|$<0.5$, suggesting difficulties for photometric redshift programs in fitting similarly red SEDs. The prevalence of these red interloper galaxies suggests that the number densities of high-mass galaxies are overestimated at $z\gtrsim3$ in large photometric surveys, helping to resolve the `impossibly early galaxy problem' and leading to much better agreement with cosmological galaxy simulations. A more complete spectroscopic survey of ultramassive galaxies is required to pin down the uncertainties on their number densities in the early universe., Comment: Accepted for publication in ApJ

Published
2024

10. Spectroscopic Confirmation of an Ultra-Massive Galaxy in a Protocluster at $z \sim 4.9$

Author

Stawinski, Stephanie M. Urbano, Cooper, M. C., Forrest, Ben, Muzzin, Adam, Marchesini, Danilo, Wilson, Gillian, Gomez, Percy, McConachie, Ian, Marsan, Z. Cemile, Annuziatella, Marianna, and Chang, Wenjun

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present spectroscopic confirmation of an ultra-massive galaxy (UMG) with $\log(M_\star/M_\odot) = 10.98 \pm 0.07$ at $z_\mathrm{spec} = 4.8947$ in the Extended Groth Strip (EGS), based on deep observations of Ly$\alpha$ emission with Keck/DEIMOS. The ultra-massive galaxy (UMG-28740) is the most massive member in one of the most significant overdensities in the EGS, with four additional photometric members with $\log(M_\star/M_\odot) > 10.5$ within $R_\mathrm{proj} \sim 1$ cMpc. The Ly$\alpha$ profile is highly asymmetric ($A_f = 3.56$), suggesting the presence of neutral gas within the interstellar medium, circumgalactic medium, or via AGN-driven outflows. Spectral energy distribution (SED) fitting using a large suite of star formation histories and two sets of high-quality photometry from ground- and space-based facilities consistently estimates the stellar mass of UMG-28740 to be $\log(M_\star/M_\odot) \sim 11$ with a small standard deviation between measurements ($\sigma = 0.07$). While the best-fit SED models agree on stellar mass, we find discrepancies in the estimated star formation rate for UMG-28740, resulting in either a star-forming or quiescent system. JWST/NIRCam photometry of UMG-28740 strongly favors a quiescent scenario, demonstrating the need for high-quality mid-IR observations. Assuming the galaxy to be quiescent, UMG-28740 formed the bulk of its stars at $z > 10$ and is quenching at $z \sim 8$, resulting in a high star formation efficiency at high redshift ($\epsilon \sim 0.2$ at $z \sim 5$ and $\epsilon \gtrsim 1$ at $z \gtrsim 8$). As the most massive galaxy in its protocluster environment, UMG-28740 is a unique example of the impossibly early galaxy problem., Comment: 11 pages, 6 figures, 2 tables, Accepted to OJA

Published
2024
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11. Efficient formation of a massive quiescent galaxy at redshift 4.9

Author

de Graaff, Anna, Setton, David J., Brammer, Gabriel, Cutler, Sam, Suess, Katherine A., Labbe, Ivo, Leja, Joel, Weibel, Andrea, Maseda, Michael V., Whitaker, Katherine E., Bezanson, Rachel, Boogaard, Leindert A., Cleri, Nikko J., De Lucia, Gabriella, Franx, Marijn, Greene, Jenny E., Hirschmann, Michaela, Matthee, Jorryt, McConachie, Ian, Naidu, Rohan P., Oesch, Pascal A., Price, Sedona H., Rix, Hans-Walter, Valentino, Francesco, Wang, Bingjie, and Williams, Christina C.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

Within the established framework of structure formation, galaxies start as systems of low stellar mass and gradually grow into far more massive galaxies. The existence of massive galaxies in the first billion years of the Universe, suggested by recent observations, appears to challenge this model, as such galaxies would require highly efficient conversion of baryons into stars. An even greater challenge in this epoch is the existence of massive galaxies that have already ceased forming stars. However, robust detections of early massive quiescent galaxies have been challenging due to the coarse wavelength sampling of photometric surveys. Here we report the spectroscopic confirmation with the James Webb Space Telescope of the quiescent galaxy RUBIES-EGS-QG-1 at redshift $z=4.90$, 1.2 billion years after the Big Bang. Deep stellar absorption features in the spectrum reveal that the galaxy's stellar mass of $10^{11}\,M_\odot$, corroborated by the mass implied by its gas kinematics, formed in a short $200\,$Myr burst of star formation, after which star formation activity dropped rapidly and persistently. According to current galaxy formation models, systems with such rapid stellar mass growth and early quenching are too rare to plausibly occur in the small area probed spectroscopically with JWST. Instead, the discovery of RUBIES-EGS-QG-1 implies that early massive quiescent galaxies can be quenched earlier or exhaust gas available for star formation more efficiently than currently assumed., Comment: 9 figures

Published
2024

12. RUBIES: JWST/NIRSpec Confirmation of an Infrared-luminous, Broad-line Little Red Dot with an Ionized Outflow

Author

Wang, Bingjie, de Graaff, Anna, Davies, Rebecca L., Greene, Jenny E., Leja, Joel, Brammer, Gabriel B., Goulding, Andy D., Miller, Tim B., Suess, Katherine A., Weibel, Andrea, Williams, Christina C., Bezanson, Rachel, Boogaard, Leindert A., Cleri, Nikko J., Hirschmann, Michaela, Katz, Harley, Labbe, Ivo, Maseda, Michael V., Matthee, Jorryt, McConachie, Ian, Naidu, Rohan P., Oesch, Pascal A., Rix, Hans-Walter, Setton, David J., and Whitaker, Katherine E.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

The JWST discovery of ``little red dots'' (LRDs) is reshaping our picture of the early Universe, yet the physical mechanisms driving their compact size and UV-optical colors remain elusive. Here we report an unusually bright LRD ($z=3.1$) observed as part of the RUBIES program. This LRD exhibits broad emission lines (FWHM $\sim4000$km/s), a blue UV continuum, a clear Balmer break and a red continuum sampled out to rest 4 $\mu$m with MIRI. We develop a new joint galaxy and AGN model within the Prospector Bayesian inference framework and perform spectrophotometric modeling using NIRCam, MIRI, and NIRSpec/Prism observations. Our fiducial model reveals a $M_*\sim 10^9M_\odot$ galaxy alongside a dust-reddened AGN driving the optical emission. Explaining the rest-frame optical color as a reddened AGN requires $A_{\rm v}\gtrsim3$, suggesting that a great majority of the accretion disk energy is re-radiated as dust emission. Yet despite clear AGN signatures, we find a surprising lack of hot torus emission, which implies that either the dust emission in this object must be cold, or the red continuum must instead be driven by a massive, evolved stellar population of the host galaxy -- seemingly inconsistent with the high EW broad lines (H$\alpha$ EW $\sim800$\AA). The widths and luminosities of Pa$\beta$, Pa$\delta$, Pa$\gamma$, and H$\alpha$ imply a modest black hole mass of $M_{\rm BH}\sim10^8M_\odot$. Additionally, we identify a narrow blue-shifted HeI absorption in G395M spectra, signaling an ionized outflow with kinetic energy up to $\sim1$\% the luminosity of the AGN. The low redshift of RUBIES-BLAGN-1 combined with the depth and richness of the JWST imaging and spectroscopic observations provide a unique opportunity to build a physical model for these so-far mysterious LRDs, which may prove to be a crucial phase in the early formation of massive galaxies and their supermassive black holes., Comment: Accepted for publication in ApJ; 24 pages, 9 figures, 5 tables. Code implementing the joint galaxy and AGN model is made publicly available online as a part of Prospector; the model used in this work corresponds to the state of the Git repository at commit 1cce164 https://github.com/bd-j/prospector/pull/366

Published
2024

13. Elent\'ari: A $z\sim3.3$ Proto-Supercluster in COSMOS

Author

Forrest, Ben, Lemaux, Brian C., Shah, Ekta, Staab, Priti, McConachie, Ian, Cucciati, Olga, Gal, Roy R., Hung, Denise, Lubin, Lori M., Cassarà, Letizia P., Cassata, Paolo, Chang, Wenjun, Cooper, M. C., Decarli, Roberto, Gomez, Percy, Gururajan, Gayathri, Hathi, Nimish, Kashino, Daichi, Marchesini, Danilo, Marsan, Z. Cemile, McDonald, Michael, Muzzin, Adam, Shen, Lu, Stawinski, Stephanie Urbano, Talia, Margherita, Vergani, Daniela, Wilson, Gillian, and Zamorani, Giovanni

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

Motivated by spectroscopic confirmation of three overdense regions in the COSMOS field at $z\sim3.35$, we analyze the uniquely deep multi-wavelength photometry and extensive spectroscopy available in the field to identify any further related structure. We construct a three dimensional density map using the Voronoi tesselation Monte Carlo method and find additional regions of significant overdensity. Here we present and examine a set of six overdense structures at $3.205\sigma$ overdensity separated by up to 70 cMpc, suggestive of a proto-supercluster similar to the Hyperion system at $z\sim2.45$. Upcoming photometric surveys with JWST such as COSMOS-Web, and further spectroscopic follow-up will enable more extensive analysis of the evolutionary effects that such an environment may have on its component galaxies at these early times., Comment: Accepted for publication in MNRAS. 7 pages, 3 figures, 3 tables

Published
2023
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14. MAGAZ3NE: High Stellar Velocity Dispersions for Ultra-Massive Quiescent Galaxies at $z\gtrsim3$

Author

Forrest, Ben, Wilson, Gillian, Muzzin, Adam, MArchesini, Danilo, Cooper, M. C., Marsan, Z. Cemile, Annunziatella, Marianna, McConachie, Ian, Zaidi, Kumail, Gomez, Percy, Stawinski, Stephanie M. Urbano, Chang, Wenjun, de Lucia, Gabriella, La Barbera, Francesco, Lubin, Lori, Nantais, Julie, Peña, Theodore, Saracco, Paolo, Surace, Jason, and Stefanon, Mauro

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

In this work we publish stellar velocity dispersions, sizes, and dynamical masses for 8 ultra-massive galaxies (UMGs; log($M$/M$_\odot>11$, $z\gtrsim3$) from the Massive Ancient Galaxies At $z>3$ NEar-infrared (MAGAZ3NE) Survey, more than doubling the number of such galaxies with velocity dispersion measurements at this epoch. Using the deep Keck/MOSFIRE and Keck/NIRES spectroscopy of these objects in the $H$- and $K$-bandpasses, we obtain large velocity dispersions of $\sim400$ km s$^{-1}$ for most of the objects, which are some of the highest stellar velocity dispersions measured, and $\sim40$\% larger than those measured for galaxies of similar mass at $z\sim1.7$. The sizes of these objects are also smaller by a factor of 1.5-3 compared to this same $z\sim1.7$ sample. We combine these large velocity dispersions and small sizes to obtain dynamical masses. The dynamical masses are similar to the stellar masses of these galaxies, consistent with a Chabrier initial mass function (IMF). Considered alongside previous studies of massive quiescent galaxies across $0.2

Published
2022
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15. Spectroscopic Confirmation of a Protocluster at $z=3.37$ with a High Fraction of Quiescent Galaxies

Author

McConachie, Ian, Wilson, Gillian, Forrest, Ben, Marsan, Z. Cemile, Muzzin, Adam, Cooper, M. C., Annunziatella, Marianna, Marchesini, Danilo, Chan, Jeffrey C. C., Gomez, Percy, Abdullah, Mohamed H., Saracco, Paolo, and Nantais, Julie

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We report the discovery of MAGAZ3NE J095924+022537, a spectroscopically-confirmed protocluster at $z = 3.3665^{+0.0009}_{-0.0012}$ around a spectroscopically-confirmed $UVJ$-quiescent ultra-massive galaxy (UMG; $M_{\star}=2.34^{+0.23}_{-0.34}\times10^{11} {\rm M}_\odot$) in the COSMOS UltraVISTA field. We present a total of 38 protocluster members (14 spectroscopic and 24 photometric), including the UMG. Notably, and in marked contrast to protoclusters previously reported at this epoch which have been found to contain predominantly star-forming members, we measure an elevated fraction of quiescent galaxies relative to the coeval field ($73.3^{+26.7}_{-16.9}\%$ versus $11.6^{+7.1}_{-4.9}\%$ for galaxies with stellar mass $M_{\star} \geq 10^{11} {\rm M}_\odot$). This high quenched fraction provides a striking and important counterexample to the seeming ubiquitousness of star-forming galaxies in protoclusters at $z>2$ and suggests, rather, that protoclusters exist in a diversity of evolutionary states in the early Universe. We discuss the possibility that we might be observing either "early mass quenching" or non-classical "environmental quenching." We also present the discovery of MAGAZ3NE J100028+023349, a second spectroscopically-confirmed protocluster, at a very similar redshift of $z = 3.3801^{+0.0213}_{-0.0281}$. We present a total of 20 protocluster members, 12 of which are photometric and 8 spectroscopic including a post-starburst UMG ($M_{\star}=2.95^{+0.21}_{-0.20}\times10^{11} {\rm M}_\odot$). Protoclusters MAGAZ3NE J0959 and MAGAZ3NE J1000 are separated by 18 arcminutes on the sky (35 comoving Mpc), in good agreement with predictions from simulations for the size of "Coma"-type cluster progenitors at this epoch. It is highly likely that the two UMGs are the progenitors of Brightest Cluster Galaxies (BCGs) seen in massive virialized clusters at lower redshift., Comment: 19 pages, 6 figures, 3 tables. Accepted for publication in ApJ

Published
2021
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16. Tracking Partially-Occluded Deformable Objects while Enforcing Geometric Constraints

Author

Wang, Yixuan, McConachie, Dale, and Berenson, Dmitry

Subjects
Computer Science - Robotics, Computer Science - Computer Vision and Pattern Recognition
Abstract

In order to manipulate a deformable object, such as rope or cloth, in unstructured environments, robots need a way to estimate its current shape. However, tracking the shape of a deformable object can be challenging because of the object's high flexibility, (self-)occlusion, and interaction with obstacles. Building a high-fidelity physics simulation to aid in tracking is difficult for novel environments. Instead we focus on tracking the object based on RGBD images and geometric motion estimates and obstacles. Our key contributions over previous work in this vein are: 1) A better way to handle severe occlusion by using a motion model to regularize the tracking estimate; and 2) The formulation of \textit{convex} geometric constraints, which allow us to prevent self-intersection and penetration into known obstacles via a post-processing step. These contributions allow us to outperform previous methods by a large margin in terms of accuracy in scenarios with severe occlusion and obstacles., Comment: 7 pages, 5 figures, submitted to 2021 International Conference on Robotics and Automation

Published
2020

17. The Number Densities and Stellar Populations of Massive Galaxies at 3 < z < 6: A Diverse, Rapidly Forming Population in the Early Universe

Author

Marsan, Z. Cemile, Muzzin, Adam, Marchesini, Danilo, Stefanon, Mauro, Martis, Nicholas, Annunziatella, Marianna, Chan, Jeffrey C. C., Cooper, Michael C., Forrest, Ben, Gomez, Percy, McConachie, Ian, and Wilson, Gillian

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present the census of massive (log(M$_{*}$/M$_{\odot}$)$\geq 11$) galaxies at $33$. The significant increase in observed number densities at $z\sim4$ ($>\times$ 5 in $\lesssim600$ Myrs) implies that this is the epoch at which log(M$_{*}$/M$_{\odot}$)$\geq 11$ galaxies emerge in significant numbers, with stellar ages ($\approx500-900$ Myrs) indicating rapid formation epochs as early as $z\sim7$. Leveraging ancillary multi-wavelength datasets, we perform panchromatic SED modelling to constrain the total star-formation activity of the sample. The star-formation activity of the sample is generally consistent with being on the star-formation main sequence at the considered redshifts, with $\approx15-25\%$ of the population showing evidence of suppressed star-formation rates, indicating that quenching mechanisms are already at play by $z\sim4$. We stack available HST imaging, confirming their compact nature ($r_{e}\lesssim2.2$ kpc), consistent with expected sizes of high-$z$ star-forming galaxies. Finally, we discuss how our results are in-line with the early formation epochs and short formation timescales inferred from the fossil records of the most massive galaxies in the Universe., Comment: 22 pages, 13 figures, 3 tables (31 pages, 16 figures, 4 tables with Appendix). ApJ submitted. Comments welcome!

Published
2020
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18. The Massive Ancient Galaxies At $z>3$ NEar-infrared (MAGAZ3NE) Survey: Confirmation of Extremely Rapid Star-Formation and Quenching Timescales for Massive Galaxies in the Early Universe

Author

Forrest, Ben, Marsan, Z. Cemile, Annunziatella, Marianna, Wilson, Gillian, Muzzin, Adam, Marchesini, Danilo, Cooper, M. C., Chan, Jeffrey C. C., McConachie, Ian, Gomez, Percy, Kado-Fong, Erin, La Barbera, Francesco, Lange-Vagle, Daniel, Nantais, Julie, Nonino, Mario, Saracco, Paolo, Stefanon, Mauro, and van der Burg, Remco F. J.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present near-infrared spectroscopic confirmations of a sample of 16 photometrically-selected galaxies with stellar masses log(M_star/M_sun) > 11 at redshift z > 3 from the XMM-VIDEO and COSMOS-UltraVISTA fields using Keck/MOSFIRE as part of the MAGAZ3NE survey. Eight of the ultra-massive galaxies (UMGs) have specific star formation rates (sSFR) < 0.03 Gyr-1, with negligible emission lines. Another seven UMGs show emission lines consistent with active galactic nuclei and/or star formation, while only one UMG has sSFR > 1 Gyr-1. Model star formation histories of these galaxies describe systems that formed the majority of their stars in vigorous bursts of several hundred Myr duration around 4 < z < 6during which hundreds to thousands of solar masses were formed per year. These formation ages of < 1 Gyr prior to observation are consistent with ages derived from measurements of Dn(4000) and EW0(H\delta). Rapid quenching followed these bursty star-forming periods, generally occurring less than 350 Myr before observation, resulting in post-starburst SEDs and spectra for half the sample. The rapid formation timescales are consistent with the extreme star formation rates observed in 4 < z < 7 dusty starbursts observed with ALMA, suggesting that such dusty galaxies are progenitors of these UMGs. While such formation histories have been suggested in previous studies, the large sample introduced here presents the most compelling evidence yet that vigorous star formation followed by rapid quenching is almost certainly the norm for high mass galaxies in the early universe. The UMGs presented here were selected to be brighter than Ks = 21.7 raising the intriguing possibility that even (fainter) older quiescent UMGs could exist at this epoch., Comment: Accepted for publication in ApJ. 18 pages, 11 figures in main text

Published
2020
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19. Learning When to Trust a Dynamics Model for Planning in Reduced State Spaces

Author

McConachie, Dale, Power, Thomas, Mitrano, Peter, and Berenson, Dmitry

Subjects
Computer Science - Robotics
Abstract

When the dynamics of a system are difficult to model and/or time-consuming to evaluate, such as in deformable object manipulation tasks, motion planning algorithms struggle to find feasible plans efficiently. Such problems are often reduced to state spaces where the dynamics are straightforward to model and evaluate. However, such reductions usually discard information about the system for the benefit of computational efficiency, leading to cases where the true and reduced dynamics disagree on the result of an action. This paper presents a formulation for planning in reduced state spaces that uses a classifier to bias the planner away from state-action pairs that are not reliably feasible under the true dynamics. We present a method to generate and label data to train such a classifier, as well as an application of our framework to rope manipulation, where we use a Virtual Elastic Band (VEB) approximation to the true dynamics. Our experiments with rope manipulation demonstrate that the classifier significantly improves the success rate of our RRT-based planner in several difficult scenarios which are designed to cause the VEB to produce incorrect predictions in key parts of the environment., Comment: Accepted to IEEE Robotics and Automation Letters with presentation at ICRA 2020. The attached video can be found at https://www.youtube.com/watch?v=2fRP4zrNj7M

Published
2020
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20. Manipulating Deformable Objects by Interleaving Prediction, Planning, and Control

Author

McConachie, Dale, Dobson, Andrew, Ruan, Mengyao, and Berenson, Dmitry

Subjects
Computer Science - Robotics
Abstract

We present a framework for deformable object manipulation that interleaves planning and control, enabling complex manipulation tasks without relying on high-fidelity modeling or simulation. The key question we address is when should we use planning and when should we use control to achieve the task? Planners are designed to find paths through complex configuration spaces, but for highly underactuated systems, such as deformable objects, achieving a specific configuration is very difficult even with high-fidelity models. Conversely, controllers can be designed to achieve specific configurations, but they can be trapped in undesirable local minima due to obstacles. Our approach consists of three components: (1) A global motion planner to generate gross motion of the deformable object; (2) A local controller for refinement of the configuration of the deformable object; and (3) A novel deadlock prediction algorithm to determine when to use planning versus control. By separating planning from control we are able to use different representations of the deformable object, reducing overall complexity and enabling efficient computation of motion. We provide a detailed proof of probabilistic completeness for our planner, which is valid despite the fact that our system is underactuated and we do not have a steering function. We then demonstrate that our framework is able to successfully perform several manipulation tasks with rope and cloth in simulation which cannot be performed using either our controller or planner alone. These experiments suggest that our planner can generate paths efficiently, taking under a second on average to find a feasible path in three out of four scenarios. We also show that our framework is effective on a 16 DoF physical robot, where reachability and dual-arm constraints make the planning more difficult., Comment: Accepted to The International Journal of Robotics Research

Published
2020
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21. An Extremely Massive Quiescent Galaxy at $z=3.493$: Evidence of Insufficiently Rapid Quenching Mechanisms in Theoretical Models

Author

Forrest, Ben, Annunziatella, Marianna, Wilson, Gillian, Marchesini, Danilo, Muzzin, Adam, Cooper, M. C., Marsan, Z. Cemile, McConachie, Ian, Chan, Jeffrey C. C., Gomez, Percy, Kado-Fong, Erin, La Barbera, Francesco, Labbé, Ivo, Lange-Vagle, Daniel, Nantais, Julie, Nonino, Mario, Peña, Theodore, Saracco, Paolo, Stefanon, Mauro, and van der Burg, Remco F. J.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We present spectra of the most massive quiescent galaxy yet discovered at $z>3$, spectroscopically confirmed via the detection of Balmer absorption features in the $H-$ and $K-$bands of Keck/MOSFIRE. The spectra confirm a galaxy with no significant ongoing star formation, consistent with the lack of rest-frame UV flux and overall photometric spectral energy distribution. With a stellar mass of $3.1^{+0.1}_{-0.2} \times 10^{11} ~\rm{M}_\odot$ at $z = 3.493$, this galaxy is nearly three times more massive than the highest redshift spectroscopically confirmed absorption-line identified galaxy known. The star-formation history of this quiescent galaxy implies that it formed $>1000 ~\rm{M}_\odot$/yr for almost 0.5 Gyr beginning at $z\sim7.2$, strongly suggestive that it is the descendant of massive dusty star-forming galaxies at $5

Published
2019
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22. Bandit-Based Model Selection for Deformable Object Manipulation

Author

McConachie, Dale and Berenson, Dmitry

Subjects
Computer Science - Robotics, Computer Science - Artificial Intelligence
Abstract

We present a novel approach to deformable object manipulation that does not rely on highly-accurate modeling. The key contribution of this paper is to formulate the task as a Multi-Armed Bandit problem, with each arm representing a model of the deformable object. To "pull" an arm and evaluate its utility, we use the arm's model to generate a velocity command for the gripper(s) holding the object and execute it. As the task proceeds and the object deforms, the utility of each model can change. Our framework estimates these changes and balances exploration of the model set with exploitation of high-utility models. We also propose an approach based on Kalman Filtering for Non-stationary Multi-armed Normal Bandits (KF-MANB) to leverage the coupling between models to learn more from each arm pull. We demonstrate that our method outperforms previous methods on synthetic trials, and performs competitively on several manipulation tasks in simulation., Comment: Presented at the Workshop on the Algorithmic Foundations of Robotics, 2016, San Francisco, CA

Published
2017
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23. Ultra-Massive Galaxies in Galaxy Protoclusters at z>3

Author

McConachie, Ian

Subjects
Astronomy, Astrophysics, Physics, Galaxy clusters, Galaxy evolution, High redshift, Massive galaxies, Protoclusters
Abstract

In this work, we present a comprehensive study of ultra-massive galaxies (UMGs; $\log(M_{\star}/{\rm M}_\odot)>11$) in three spectroscopically-confirmed protoclusters at $z>3$ discovered by the Massive Ancient Galaxies At $z > 3$ NEar-infrared (MAGAZ3NE) survey in the COSMOS UltraVISTA field. We present the discovery and spectroscopic confirmation of MAGAZ3NE J095924+022537 around a spectroscopically-confirmed $UVJ$-quiescent ultra-massive galaxy {\rm UMG} ID ``COS-DR3-\ensuremath{179370}'' with $\ensuremath{M_{\star}}=2.34^{+0.23}_{-0.34}\times10^{11}~\ensuremath{{\rm M}_\odot}$. We measure an elevated fraction of quiescent galaxies relative to the coeval field for massive galaxies, which provides a striking and important counterexample to the seeming ubiquitousness of star-forming galaxies in protoclusters and highlights the diversity of evolutionary states of protoclusters in the early Universe. We also present the discovery of MAGAZ3NE J100028+023349, a second spectroscopically-confirmed protocluster, at a very similar redshift of $z = 3.3801^{+0.0213}_{-0.0281}$ containing a post-starburst UMG ($\ensuremath{M_{\star}}=2.95^{+0.21}_{-0.20}\times10^{11}~\ensuremath{{\rm M}_\odot}$). Protoclusters MAGAZ3NE J09559 and J1000 are separated by 18 arcminutes on the sky (35 comoving Mpc), in good agreement with predictions from simulations for the size of ``Coma''-type cluster progenitors at this epoch. We show a third spectroscopically-confirmed protocluster, MAGAZ3NE J100143+023021 at $z=3.122^{+0.007}_{-0.004}$ embedded in a large filamentary cosmic protostructure at $z\sim3.1$. We map and measure the mass of MAGAZ3NE J1001 and find good agreement between our results, other observations of this structure, and simulations of protoclusters. MAGAZ3NE J1001 contains three spectroscopically-confirmed members which are star-forming UMGs, the most massive of which has $\log(M_{\star}/{\rm M}_\odot)=11.15^{+0.05}_{-0.06}$. The other two UMGs are identified as a galaxy merger candidate based on their separation of $30$ physical kpc and relative velocity difference $\Delta v \sim 700~\rm{km~s^{-1}}$. We show that while the properties of UMGs and their neighboring galaxies in protoclusters appear to be correlated, UMGs and protoclusters exist in a diversity of evolutionary states at early cosmic times. We find that the other massive galaxies around the protocluster UMGs appear to obey galactic conformity in their rest-frame colors, which would be the first detection of conformity at $z>3$.

Published
2023

24. Central Queensland University's Course Management Systems: Accelerator or Brake in Engaging Change?

Author

McConachie, Jeanne, Danaher, Patrick Alan, Luck, Jo, and Jones, David

Abstract

Central Queensland University (CQU) is a highly complex institution, combining campuses in Central Queensland and distance education programs for Australian domestic students with Australian metropolitan sites for international students and a number of overseas centres, also for international students. In common with many other universities, CQU has recently reviewed its course management systems (CMSs). In doing so, CQU has signalled its desired strategic position in managing its online learning provision for the foreseeable future. This paper analyzes that strategic position from the perspective of the effectiveness of CQU's engagement with current drivers of change. Drawing on online survey results, the authors deploy Introna's (1996) distinction between teleological and ateleological systems to interrogate CQU's current position on CMSs--one of its most significant enterprises--for what it reveals about whether and how CQU's CMSs should be considered an accelerator of, or a brake on, its effective engagement with those drivers of change. The authors contend that a more thorough adoption of an ateleological systems approach is likely to enhance the CMS's status as an accelerator in engaging with such drivers. (Contains 1 figure and 7 tables.)

Published
2005

25. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Author

Casey, Jillian P, Magalhaes, Tiago, Conroy, Judith M, Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C, Abrahams, Brett S, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Foley, Suzanne, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Lamb, Janine A, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lord, Catherine, Lund, Sabata C, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L, Sequeira, Ana F, Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P, Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, Jacob AS, Wallace, Simon, Wang, Kai, Wassink, Thomas H, White, Kathy, and Wing, Kirsty

Subjects
Autism, Genetics, Mental Health, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Biotechnology, Pediatric, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adult, Child, Child Development Disorders, Pervasive, Cluster Analysis, Cohort Studies, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Haplotypes, Homozygote, Humans, Linkage Disequilibrium, Male, Middle Aged, Nuclear Family, Polymorphism, Single Nucleotide, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity
Abstract

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Published
2012

26. A genome-wide scan for common alleles affecting risk for autism

Author

Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R, Correia, Catarina, Abrahams, Brett S, Sykes, Nuala, Pagnamenta, Alistair T, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R, Casallo, Guillermo, Casey, Jillian, Chu, Su H, Cochrane, Lynne, Corsello, Christina, Crawford, Emily L, Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Heron, Elizabeth A, Hill, Matthew, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lionel, Anath C, Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Melhem, Nadine M, Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, and Poustka, Fritz

Subjects
Clinical Research, Human Genome, Mental Health, Genetics, Brain Disorders, Pediatric, Biotechnology, Intellectual and Developmental Disabilities (IDD), Autism, Prevention, Aetiology, 2.1 Biological and endogenous factors, Alleles, Autistic Disorder, DNA Copy Number Variations, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Risk Factors, White People, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

Published
2010

27. Worldwide Disparities in Recovery of Cardiac Testing 1 Year Into COVID-19

Author

Einstein, A, Hirschfeld, C, Williams, M, Vitola, J, Better, N, Villines, T, Cerci, R, Shaw, L, Choi, A, Dorbala, S, Karthikeyan, G, Lu, B, Sinitsyn, V, Ansheles, A, Kudo, T, Bucciarelli-Ducci, C, Norgaard, B, Maurovich-Horvat, P, Campisi, R, Milan, E, Louw, L, Allam, A, Bhatia, M, Sewanan, L, Malkovskiy, E, Cohen, Y, Randazzo, M, Narula, J, Morozova, O, Pascual, T, Pynda, Y, Dondi, M, Paez, D, Hinterleitner, G, Lu, Y, Xu, Z, Erinne, I, Shetty, M, Lopez-Mattei, J, Parwani, P, Goda, A, Shirka, E, Bouyoucef, S, Chelghoum, L, Mansouri, F, Medjahedi, A, Naili, Q, Ridouh, M, Alasia, D, Alberghina, L, Aramayo, N, Buchara, D, Busso, F, Bustos Rivadero, J, Camilletti, J, Campanelli, H, Castro, R, Daicz, M, del Riego, H, Dragonetti, L, Echazarreta, D, Erriest, J, Faccio, F, Facello, A, Gallegos, H, Geronazzo, R, Glait, H, Hasbani, V, Jager, V, Lewkowicz, J, Lotti, J, Maciel, N, Masoli, O, Mastrovito, E, Medus, M, Merani, M, Molteni, S, Montecinos, M, Parisi, G, Sueldo, C, Perez de Arenaza, D, Quintana, L, Radzinschi, A, Redruello, M, Rodriguez, M, Rojas, H, Acuna, A, Schere, D, Traverso, S, Vazquez, G, Zeffiro, S, Sakanyan, M, Beuzeville, S, Boktor, R, Crowley, M, Downie, D, Dwivedi, G, Elison, B, Farouque, O, Jasper, K, Joshi, S, Lee, J, Lee, K, Lui, E, Mcconachie, P, Meaker, J, Nandurkar, D, Neill, J, O'Rourke, E, O'Sullivan, P, Pandos, G, Premaratne, M, Prior, D, Rutherford, N, Saunders, C, Taubman, K, Tauro, A, Taylor, A, Theuerle, J, Thomas, P, Tow, J, Upton, A, Vamadevan, S, Wayne, V, Wegner, E, Wong, D, Younger, J, Beitzke, D, Feuchtner, G, Sommer, O, Weiss, K, Maroz-Vadalazhskaya, N, Tserakhau, U, Homans, F, Van De Heyning, C, Araujo, R, Soldat-Stankovic, V, Stankovic, S, Almeida, A, Anselmi, C, Azevedo, G, Bittencourt, M, Pianta, D, Cabeda, E, Carreira, L, Coelho, I, de Amorim Fernandes, F, de Lorenzo, A, Delgado, R, Erthal, F, Fernandes, F, Fernandes, J, Ferreira de Souza, T, Foppa, M, Matos Alves, W, Gontijo, C, Gottlieb, I, Grossman, G, Albernaz Siqueira, M, Nomura, C, Koga, K, Lima, R, Lopes, R, Marcal Filho, H, Masiero, P, Mastrocola, L, Menezes de Siqueira, M, Mesquita, C, Naves, D, Penna, F, Pinto, I, Rocha, T, Rocha, J, Rodrigues, A, Salioni, L, Sanches, A, Santos, M, Da Silva, L, Schvartzman, P, Matushita, C, Senra, T, Silva, M, Soares, C, Spiro, B, Suaide Silva, C, Torres, R, Monte, G, Vilela, A, Villa, A, Voss, T, Waltrick, R, Zapparoli, M, Naseer, H, Garcheva-Tsacheva, M, Ouattara, T, Thou, S, Varoeun, S, Abikhzer, G, Beanlands, R, Chetrit, M, Dabreo, D, Dennie, C, Friedrich, M, Hafez, M, Hanneman, K, Miller, R, Oikonomou, A, Roifman, I, Small, G, Tandon, V, Trivedi, A, White, J, Zukotynski, K, Alay, R, Concha, C, Massardo, T, Abad, P, Anzola, K, Arturo, H, Benitez, L, Cadena, A, Zamudio, C, Calderon, A, Gutierrez Villamil, C, Jaimes, C, Londono, J, Lopez, N, Merlano-Gaitan, S, Murgieitio-Cabrera, R, Valencia, M, Vergel, D, Santamaria, A, Solis, F, Batinic, T, Franceschi, M, Paar, M, Prpic, M, Felipe Batista, C, Cabrera, L, Peix, 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R., Burger P., Grani C., Kamani C., Kawel-Bohm N., Klaeser B., Manka R., Prior J., Kaewchur T., Khiewvan B., Kositwattanarerk A., Namwongprom S., Thientunyakit T., Sayman H. B., Yuksel M., Sebikali M. J., Okello E., Korol P., Noverko I., Satyr M., Ahmad T., Alfakih K., Andrade I., Buckingham S., Bularga A., Carpenter J. -P., Cole G., Cusack D., David S., Davis P., Fairbairn T., Ghosh A., Ramkumar P. G., Hamilton M., Haque F., Hudson B., Johnstone A., Karthikeyan V. J., Kay M., Khan M. A., Kitt J., Low C. S., Mcalindon E., Mccreavy D., Morrissey B., Motwani M., Na D., Nicol E., Patel D., Rodrigues J., Rofe C., Schofield R., Semple T., Sheikh A., Sinha A., Subedi D., Topping W., Tweed K., Underwood S. R., Weir-Mccall J., Zuhairy H., Abbasi T., Abohashem S., Abramson S., Al-Mallah M., Kumar M. A., Balmer-Swain M., Berman D., Bernheim A., Bhatti S., Biederman R., Bieging E., Bingham S., Bloom S., Blue S., Borges A., Branch K., Bravo P., Buddhe S., Budoff M., Bullock-Palmer R., Cahill M., Candela C., Cao J., Chatterjee S., Chatzizisis Y., Chaudhuri N. R., Cheezum M., Chelliah A., Chen T., Chen M., Chen L., Chokshi A., Chung J., Danciu S., DeSisto W., Dilorenzo M., Doukky R., Duvall W., Ferencik M., Foster C., Fuisz A., Gannon M., German D., Gerson M., Geske J., Hage F., Haider A., Haider S., Hamirani Y., Hassen K., Hendel R., Henkel J., Horgan S., Hyun M., Janardhanan R., Jerome S., Kalra D., Kassop D., Kinkhabwala M., Kinzfogl G., Koch B., Koweek L., Krepp J., Kwon Y., Layer J., Lesser J., Leung S., Lisske B., Magurany K., Markowitz J., Mccullough B., Moalemi A., Moffitt C., Montanez J., Moore W., Morayati S., Mossa-Basha M., Mrsic Z., Murthy V., Nagpal P., Nelson K., Nijjar P., O'Quinn R., Passen E., Patil P., Pursnani A., Quachang N., Rabbat M., Ranjan P., Lozano P. R., Schemmer M., Seifried R., Shah N., Shah A., Shanbhag S., Sharma G., Skotnicki R., Sobczak M., Soman P., Sorrell V., Srichai M., Streeter J., Strickland L., Suliman S., Tebyanian N., Thomas D., Thompson R., Uretsky S., Vallurupalli S., Vandyck-Acquah M., Verma V., Villines T., Weinstein J., Wolinsky D., Zareba K., Zgaljardic M., Beretta M., Ferrando R., Kapitan M., Mut F., Djuraev O., Rozikhodjaeva G., Vera L., Duc B. D., Nguyen X. C., Hiep Nguyen P. 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J., Hirschfeld C., Williams M. C., Vitola J. V., Better N., Villines T. C., Cerci R., Shaw L. J., Choi A. D., Dorbala S., Karthikeyan G., Lu B., Sinitsyn V., Ansheles A. A., Kudo T., Bucciarelli-Ducci C., Norgaard B. L., Maurovich-Horvat P., Campisi R., Milan E., Louw L., Allam A. H., Bhatia M., Sewanan L., Malkovskiy E., Cohen Y., Randazzo M., Narula J., Morozova O., Pascual T. N. B., Pynda Y., Dondi M., Paez D., Hinterleitner G., Lu Y., Xu Z., Hirschfeld C. B., Erinne I., Shetty M., Choi A., Lopez-Mattei J., Parwani P., Goda A., Shirka E., Bouyoucef S., Chelghoum L., Mansouri F., Medjahedi A., Naili Q., Ridouh M., Alasia D., Alberghina L., Aramayo N., Buchara D., Busso F. G., Bustos Rivadero J. J., Camilletti J., Campanelli H., Castro R. B., Daicz M., del Riego H., Dragonetti L., Echazarreta D., Erriest J., Faccio F., Facello A., Gallegos H., Geronazzo R., Glait H., Hasbani V., Jager V., Lewkowicz J. M., Lotti J., Maciel N., Masoli O., Mastrovito E., Medus M., Merani M. F., Molteni S., Montecinos M., Parisi G., Sueldo C. P., Perez de Arenaza D., Quintana L., Radzinschi A., Redruello M., Rodriguez M., Rojas H., Acuna A. R., Schere D., Traverso S., Vazquez G., Zeffiro S., Sakanyan M., Beuzeville S., Boktor R., Crowley M., Downie D. A., Dwivedi G., Elison B., Farouque O., Jasper K., Joshi S., Lee J., Lee K., Lui E., Mcconachie P., Meaker J., Nandurkar D., Neill J., O'Rourke E., O'Sullivan P., Pandos G., Premaratne M., Prior D., Rutherford N., Saunders C., Taubman K., Tauro A., Taylor A., Theuerle J., Thomas P., Tow J., Upton A., Vamadevan S., Wayne V., Wegner E. A., Wong D., Younger J., Beitzke D., Feuchtner G., Sommer O., Weiss K., Maroz-Vadalazhskaya N., Tserakhau U., Homans F., Van De Heyning C. M., Araujo R., Soldat-Stankovic V., Stankovic S., Almeida A., Anselmi C., Azevedo G. S. A., Bittencourt M. S., Pianta D. B., Cabeda E., Carreira L., Coelho I., de Amorim Fernandes F., de Lorenzo A., Delgado R., Erthal F., Fernandes F., Fernandes J., Ferreira de Souza T., Foppa M., Matos Alves W. F., Gontijo C., Gottlieb I., Grossman G., Albernaz Siqueira M. H., Nomura C. H., Koga K. H., Lima R., Lopes R., Marcal Filho H. H., Masiero P., Mastrocola L., Menezes de Siqueira M. E., Mesquita C., Naves D., Penna F., Pinto I., Rocha T., Rocha J. L., Rodrigues A., Salioni L., Sanches A., Santos M., Da Silva L. S., Schvartzman P., Matushita C. S., Senra T., Silva M., Soares C. E., Spiro B., Suaide Silva C. E., Torres R., Monte G. U., Vilela A., Villa A. V., Vitola J., Voss T., Waltrick R., Zapparoli M., Naseer H., Garcheva-Tsacheva M., Ouattara T. F., Thou S., Varoeun S., Abikhzer G., Beanlands R., Chetrit M., Dabreo D., Dennie C., Friedrich M., Hafez M. N., Hanneman K., Miller R., Oikonomou A., Roifman I., Small G., Tandon V., Trivedi A., White J., Zukotynski K., Alay R., Concha C., Massardo T., Abad P., Anzola K., Arturo H., Benitez L., Cadena A., Zamudio C. C., Calderon A., Gutierrez Villamil C. T., Jaimes C., Londono J. L., Lopez N., Merlano-Gaitan S., Murgieitio-Cabrera R., Valencia M., Vergel D., Santamaria A. Z., Solis F., Batinic T., Franceschi M., Paar M. H., Prpic M., Felipe Batista C. J., Cabrera L. O., Peix A., Pena Y., Rochela Vazquez L. M., Ntalas I., Kaminek M., Kincl V., Lang O., Abdulla J., Bottcher M., Busk M., Geisler U., Gormsen L. C., Hansson N., Hess S., Hove J., Jensen L. T., Jensen M. T., Kragholm K. H., Ovrehus K., Rasmussen J., Ronnow Sand N. P., Sondergaard H., Zaremba T., Speckter H., Amores N., Velez M. S., Alrahman T. A., Elsamad S. A., Abdelfattah A., Allam A., Elkaffas S., Hassan M., Hussein E., Ibrahim A., Kandeel A., Ali M. M., Shaaban M., Flores C., Gomez Leiva V. V., Liiver A., Larikka M., Uusitalo V., Agostini D., Berger C., Dietz M., Hyafil F., Ohana M., Prigent K., Regaieg H., Sarda-Mantel L., H-Ici D. O., Ayetey H., Angelidis G., Fragkaki C., Fragkiadaki C., Georgoulias P., Koutelou M., Kyrozi E., Lama N., Prassopoulos V., Spartalis M., Zaglavara T., Gonzalez C., Gutierrez G., Maldonado A., Martinez Y., Kovacs A., Szilveszter B., Banthia N., Bhat V., Choudhury P., Chowdekar V. S., Christopher J., Garg T., Goyal N. K., Gupta R. K., Gupta A., Hephzibah J., Jain S., Krupa J., Kumar P., Kumar S., Lalchandani A., Mishra A., Mishra V. D., Mohan P., Ozair A., Pandey S., Parameswaran R., Patel C., Patel T., Patel S., Vimala L. R., Kumar Sarangi D. P., Sengupta S., Sethi A., Sharma A., Sharma A. K., Sharma P., Shrigiriwar A., Singh S., Singh H., Sood A., Verma A., Vyas A., Soeriadi E. A., Bun E., Hutomo F., Syawaluddin H., Yudistiro R., Albadr A., Assadi M., Emami F., Emami-Ardekani A., Farzanehfar S., Jafari R., Manafi-Farid R., Tajik M., Arnson Y., Fuchs S., Goldkorn R., Kennedy J., Leitman M., Shalev A., Acampa W., Albano D., Alongi P., Arnone G., Assante R., Baritussio A., Bauckneht M., Bianco F., Bonfiglioli R., Bovenzi F., Bruno I., Bruno A., Busnardo E., Califaretti E., Casoni R., Censullo V., Chierichetti F., Chiocchi M., Cittanti C., Clemente A., Cuocolo A., De Rimini M. L., De Vincentis G., Della Tommasina V., Dellegrottaglie S., Erba P. A., Evangelista L., Faggi L., Faragasso E., Florimonte L., Frantellizzi V., Gatti M., Gaudiano A., Gelardi F., Gerali A., Gimelli A., Guglielmo M., Leccisotti L., Liga R., Liguori C., Longo G., Maffione M., Marcassa C., Matassa G., Mele D., Mircoli L., Paccagnella A., Pacella S., Padovano F., Pellegrini D., Pergola V., Pugliese L., Quartuccio N., Rampin L., Ricci F., Rubini G., Russo V., Sambuceti G., Scatteia A., Sciagra R., Spidalieri G., Stefanelli A., Tedeschi C., Ventroni G., Baugh D., Madu E., Aikawa T., Asano H., Fujimoto S., Fujise K., Fukushima Y., Fukuyama K., Ichikawa Y., Ideguchi R., Iguchi N., Imai M., Ishimura H., Isobe S., Ito K., Izawa Y., Kadokami T., Kasai T., Kato T., Kawamoto T., Kiryu S., Kumita S., Manabe O., Maruno H., Matsumoto N., Miyagawa M., Moroi M., Nagamachi S., Nakajima K., Nakazato R., Nanasato M., Naya M., Norikane T., Ohta Y., Otomi Y., Otsuka H., Oyama-Manabe N., Saito M., Sarai M., Sato J., Sato D., Shiraishi S., Takanami K., Takehana K., Taniguchi Y., Teragawa H., Tomizawa N., Umeji K., Wakabayashi Y., Yamada S., Yamazaki S., Yoneyama T., Rawashdeh M., Dautov T., Makhdomi K., Abass M., Garashi M., Siraj Q., Kalnina M., Haidar M., Komiagiene R., Kviecinskiene G., Vajauskas D., Karim N. K. A., Doucoure M., Reichmuth L., Samuel A., Dieng M. L., Naojee A. S., Hernandez E. A., Alducin Tellez C. R., Alexanderson-Rosas E., Barragan E., Cabada M., Calderon D., Carvajal-Juarez I., Esparza J., Gama-Moreno M. G., Quinto V. G., Gonzalez N. C., Herrera-Zarza M. C., Meave A., Medina Verdugo J. G., Melendez G., Morales Murguia R. H., Navarro Quiroz C. S., Ornelas M., Preciado-Anaya A., Preciado-Gutierrez O. U., Puente A., Salazar A. R., Rosales Uvera S. G., Rosales-Uvera S., Serna Macias J. A., Sierra-Galan L., Sierra-Galan L. M., Tirado Alderete J. C., Vallejo E., Faraggi M., Sereegotov E., Ben Rais N., Alaoui N. I., Kyiphyu T., Oo S. T., Win S. M., Zar H., Ghimire R., Neupane M., Glaudemans A., Slart R., Verschure D., Allen B., Edmond J., Mckenzie C., Tie S., Van Pelt N., Worthington K., Young C., Soli I. A., Kana S., Onubogu U., Sani M., Braten A. T., Jorgensen A., Vassbotn H. -E., Al Dhuhli H., Jawa Z., Tag N., Fatima S., Imran M. B., Younis M. N., Saadullah M., Malo Y. H., Lenturut-Katal D., Castillo M., Ortellado J., Akhter A., Cader F. A., Hussain R., Khan S. R., Mandal T., Nasreen F., An Y., Cao D., Gong L., Hou Y., Jia C., Li T., Li C., Liu H., Liu W., Liu J., Ng M. -Y., Shi H., Tang C., Wang X., Wang Z., Wang Y., Wu J., Yi Y., Yuan L., Zhang T., Zhang L., Chavez E., Cruz C., Llontop C., Morales R., Abrihan P., Bustos-Barroso A., Duldulao-Ogbac M., Eduarte C., Obaldo J., Quinon A., San Juan B., San Juan C. J., Sauler-Gomez M. R., Uy M., Kostkiewicz M., Kunikowska J., Teresinska A., Urbanik T., Bettencourt N., Fontes-Carvalho R., Gavina C., Goncalves L., Macedo F., Moreno N., Sousa C., Timoteo A. T., Vidigal M. J., Al Heidous M., Ramanathan S., Arnous S., Aytani S., Byrne A., Gleeson T., Kerins D., O'Brien J., Bang J. -I., Bom H., Cheon M., Cheon G. J., Cho S. -G., Hong C. M., Jeong Y. H., Kang W. J., Kang Y. -K., Kim J. -Y., Oh S. W., So Y., Song H. -C., Won K. S., Yoo S. W., Mitevska I., Vavlukis M., Salobir B. G., Stalc M., Benedek T., Pop M., Stan C., Ansheles A., Dariy O., Gagarina N., Itskovich I., Karalkin A., Kokov A., Marina G., Migunova E., Pospelov V., Ryzhkova D., Sayfullina G., Sergienko V., Shurupova I., Vakhromeeva M., Valiullina N., Zavadovsky K., Zhuravlev K., Abazid R., Al Garni T., Alasnag M., Aljizeeri A., Amer H., Amro A., Hamdy H., Smettei O., Saranovic D. S., Vlajkovic M., Keng F., See J., Berecova Z., Mistinova J. P., Evbuomwan O., Govender N., Hack J., Hadebe B., Hlongwa K., Kaplan M., Lakhi H., Milos K., Modiselle M., More S., Muambadzi N., Scholtz L., Barreiro-Perez M., Blanco I., Broncano J., Camarero A., Casans-Tormo I., De Haro J., Flotats A., Garcia E., Mendiguchia C. G., Jimenez-Heffernan A., Leta R., Diaz J. L., Vega L. L., Manovel-Sanchez A., Monzonis A. M., Patrut B., Pubul V., Perez R. R., Zeidan N., Nanayakkara D., Suliman A., Engblom H., Murtadha M., Ostenfeld E., Simonsson M., Alkadhi H., Buechel R. R., Burger P., Grani C., Kamani C., Kawel-Bohm N., Klaeser B., Manka R., Prior J., Kaewchur T., Khiewvan B., Kositwattanarerk A., Namwongprom S., Thientunyakit T., Sayman H. B., Yuksel M., Sebikali M. J., Okello E., Korol P., Noverko I., Satyr M., Ahmad T., Alfakih K., Andrade I., Buckingham S., Bularga A., Carpenter J. -P., Cole G., Cusack D., David S., Davis P., Fairbairn T., Ghosh A., Ramkumar P. G., Hamilton M., Haque F., Hudson B., Johnstone A., Karthikeyan V. J., Kay M., Khan M. A., Kitt J., Low C. S., Mcalindon E., Mccreavy D., Morrissey B., Motwani M., Na D., Nicol E., Patel D., Rodrigues J., Rofe C., Schofield R., Semple T., Sheikh A., Sinha A., Subedi D., Topping W., Tweed K., Underwood S. R., Weir-Mccall J., Zuhairy H., Abbasi T., Abohashem S., Abramson S., Al-Mallah M., Kumar M. A., Balmer-Swain M., Berman D., Bernheim A., Bhatti S., Biederman R., Bieging E., Bingham S., Bloom S., Blue S., Borges A., Branch K., Bravo P., Buddhe S., Budoff M., Bullock-Palmer R., Cahill M., Candela C., Cao J., Chatterjee S., Chatzizisis Y., Chaudhuri N. R., Cheezum M., Chelliah A., Chen T., Chen M., Chen L., Chokshi A., Chung J., Danciu S., DeSisto W., Dilorenzo M., Doukky R., Duvall W., Ferencik M., Foster C., Fuisz A., Gannon M., German D., Gerson M., Geske J., Hage F., Haider A., Haider S., Hamirani Y., Hassen K., Hendel R., Henkel J., Horgan S., Hyun M., Janardhanan R., Jerome S., Kalra D., Kassop D., Kinkhabwala M., Kinzfogl G., Koch B., Koweek L., Krepp J., Kwon Y., Layer J., Lesser J., Leung S., Lisske B., Magurany K., Markowitz J., Mccullough B., Moalemi A., Moffitt C., Montanez J., Moore W., Morayati S., Mossa-Basha M., Mrsic Z., Murthy V., Nagpal P., Nelson K., Nijjar P., O'Quinn R., Passen E., Patil P., Pursnani A., Quachang N., Rabbat M., Ranjan P., Lozano P. R., Schemmer M., Seifried R., Shah N., Shah A., Shanbhag S., Sharma G., Skotnicki R., Sobczak M., Soman P., Sorrell V., Srichai M., Streeter J., Strickland L., Suliman S., Tebyanian N., Thomas D., Thompson R., Uretsky S., Vallurupalli S., Vandyck-Acquah M., Verma V., Villines T., Weinstein J., Wolinsky D., Zareba K., Zgaljardic M., Beretta M., Ferrando R., Kapitan M., Mut F., Djuraev O., Rozikhodjaeva G., Vera L., Duc B. D., Nguyen X. C., and Hiep Nguyen P. M.

Abstract

Background: The extent to which health care systems have adapted to the COVID-19 pandemic to provide necessary cardiac diagnostic services is unknown. Objectives: The aim of this study was to determine the impact of the pandemic on cardiac testing practices, volumes and types of diagnostic services, and perceived psychological stress to health care providers worldwide. Methods: The International Atomic Energy Agency conducted a worldwide survey assessing alterations from baseline in cardiovascular diagnostic care at the pandemic's onset and 1 year later. Multivariable regression was used to determine factors associated with procedure volume recovery. Results: Surveys were submitted from 669 centers in 107 countries. Worldwide reduction in cardiac procedure volumes of 64% from March 2019 to April 2020 recovered by April 2021 in high- and upper middle-income countries (recovery rates of 108% and 99%) but remained depressed in lower middle- and low-income countries (46% and 30% recovery). Although stress testing was used 12% less frequently in 2021 than in 2019, coronary computed tomographic angiography was used 14% more, a trend also seen for other advanced cardiac imaging modalities (positron emission tomography and magnetic resonance; 22%-25% increases). Pandemic-related psychological stress was estimated to have affected nearly 40% of staff, impacting patient care at 78% of sites. In multivariable regression, only lower-income status and physicians’ psychological stress were significant in predicting recovery of cardiac testing. Conclusions: Cardiac diagnostic testing has yet to recover to prepandemic levels in lower-income countries. Worldwide, the decrease in standard stress testing is offset by greater use of advanced cardiac imaging modalities. Pandemic-related psychological stress among providers is widespread and associated with poor recovery of cardiac testing.

Published
2022

28. Paediatric Autism Communication Therapy-Generalised (PACT-G) against treatment as usual for reducing symptom severity in young children with autism spectrum disorder: study protocol for a randomised controlled trial

Author

Green, Jonathan, Aldred, Catherine, Charman, Tony, Le Couteur, Ann, Emsley, Richard A., Grahame, Victoria, Howlin, Patricia, Humphrey, Neil, Leadbitter, Kathy, McConachie, Helen, Parr, Jeremy R., Pickles, Andrew, Slonims, Vicky, Taylor, Carol, and PACT-G Group

Published
2018
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31. Measurement of Restricted and Repetitive Behaviour in Children with Autism Spectrum Disorder: Selecting a Questionnaire or Interview

Author

Honey, Emma, Rodgers, Jacqui, and McConachie, Helen

Abstract

Assessment of children's restricted and repetitive behaviours offers potential opportunities to improve early diagnosis of autism spectrum disorder (ASD) and timely access to interventions and support. To facilitate this requires understanding of the phenomenology of repetitive behaviours in ASD, including differentiating behaviours seen in ASD from other populations such as young typically developing and developmentally delayed children. A key factor in achieving understanding is valid and reliable measurement. This review considers the issues in conceptualisation of repetitive behaviours which should guide the choice of measurement tool, including definition of subtypes of repetitive behaviours, associations with age and ability, and categorisation of frequency and severity. The resulting conclusions about the requirements for measurement are applied within a systematic review of quantitative interview and questionnaire measures of repetitive behaviour used with children with ASD. The conclusions of the review lead to recommendations for existing and future research on restricted and repetitive behaviours in ASD. (Contains 1 table.)

Published
2012
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32. Validation of the Repetitive Behaviour Questionnaire for Use with Children with Autism Spectrum Disorder

Author

Honey, Emma, McConachie, Helen, and Turner, Michelle

Abstract

The repetitive behaviour questionnaire (RBQ) (Turner, 1995) is one of the three most commonly used interview/questionnaire measures of repetitive behaviour (Honey et al., in preparation). Despite this there is a scarcity of information concerning its structure, reliability and validity. The psychometric properties of the RBQ were examined when used with children with an autism spectrum disorder, children of typical development and children with a learning disability. The questionnaire was found to examine two valid and reliable factors of repetitive behaviour and to have good levels of concurrent and construct validity. This novel study provides researchers and clinicians with information necessary to make decisions about the RBQ's utility and for the evaluation of conclusions drawn from existing research, which has used the RBQ. (Contains 6 tables and 1 figure.)

Published
2012
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34. Effect of proximal blood flow arrest during endovascular thrombectomy (ProFATE): Study protocol for a multicentre randomised controlled trial

Author

Dhillon, Permesh Singh, Butt, Waleed, Podlasek, Anna, Bhogal, Pervinder, McConachie, Norman, Lenthall, Robert, Nair, Sujit, Malik, Luqman, Lynch, Jeremy, Goddard, Tony, Barrett, Emma, Krishnan, Kailash, Dineen, Robert A, and England, Timothy J

Abstract

Background: Observational studies have demonstrated improved outcomes with the adjunctive use of balloon guide catheters (BGC) during endovascular thrombectomy (EVT) for anterior circulation acute ischaemic stroke (AIS). However, the lack of high-level evidence and global practice heterogeneity justifies a randomised controlled trial (RCT) to investigate the effect of transient proximal blood flow arrest on the procedural and clinical outcomes of patients with AIS following EVT.Hypothesis: Proximal blood flow arrest in the cervical internal carotid artery during EVT for proximal large vessel occlusion is superior to no flow arrest in achieving complete vessel recanalisation.Methods: ProFATE is an investigator-initiated, pragmatic, multicentre RCT with blinding of participants and outcome assessment. An estimated 124 participants with an anterior circulation AIS due to large vessel occlusion, an NIHSS of ⩾2, ASPECTS ⩾ 5 and eligible for EVT using a first-line combined technique (contact aspiration and stent retriever) or contact aspiration only will be randomised (1:1) to receive BGC balloon inflation or no inflation during EVT.Outcomes: The primary outcome is the proportion of patients achieving near-complete/complete vessel recanalisation (eTICI 2c-3) at the end of the EVT procedure. Secondary outcomes include the functional outcome (modified Rankin Scale at 90 days), new or distal vascular territory clot embolisation rate, near-complete/complete recanalisation after the first pass, symptomatic intracranial haemorrhage, procedure-related complications and death at 90 days.Discussion: This is the first RCT to investigate the effect of proximal blood flow arrest during EVT using a BGC on the procedural and clinical outcomes of patients with AIS due to large vessel occlusion.

Published
2023
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35. Perfusion Imaging for Endovascular Thrombectomy in Acute Ischemic Stroke Is Associated With Improved Functional Outcomes in the Early and Late Time Windows.

Author

Dhillon, Permesh Singh, Butt, Waleed, Podlasek, Anna, McConachie, Norman, Lenthall, Robert, Nair, Sujit, Malik, Luqman, Booth, Thomas C., Bhogal, Pervinder, Makalanda, Hegoda Levansri Dilrukshan, Spooner, Oliver, Mortimer, Alex, Lamin, Saleh, Chavda, Swarupsinh, Chew, Han Seng, Nader, Kurdow, Al-Ali, Samer, Butler, Benjamin, Rajapakse, Dilina, and Appleton, Jason P.

Published
2022
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36. Pressor therapy in acute ischaemic stroke: an updated systematic review

Author

Strømsnes, Torbjørn Austveg, Kaugerud Hagen, Truls Jørgen, Ouyang, Menglu, Wang, Xia, Chen, Chen, Rygg, Silje-Emilie, Hewson, David, Lenthall, Rob, McConachie, Norman, Izzath, Wazim, Bath, Philip M, Dhillon, Permesh Singh, Podlasek, Anna, England, Timothy, Sprigg, Nikola, Robinson, Thompson G, Advani, Rajiv, Ihle-Hansen, Hege, Sandset, Else Charlotte, and Krishnan, Kailash

Published
2022
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37. Plasma and Joint Fluid Glypican-3 Are Inversely Correlated with the Severity of Knee Osteoarthritis

Author

Udomsinprasert, Wanvisa, McConachie, Ellie, Ngarmukos, Srihatach, Theerawattanapong, Nipaporn, Tanavalee, Aree, and Honsawek, Sittisak

Abstract

Objective Glypican-3 possesses a possible action in regulation of bone growth and development implicated in osteoarthritis (OA) pathology. Therefore, this study aimed to investigate glypican-3 in plasma and synovial fluid of knee OA patients and to determine the possible association between glypican-3 levels and radiographic severity.Design A total of 80 knee OA patients and 80 healthy controls were recruited. Glypican-3 levels in plasma and synovial fluid were measured using enzyme-linked immunosorbent assay. The severity of knee OA was assessed by radiographic grading according to the Kellgren-Lawrence classification. Relative mRNA expression of glypican-3 in 10 inflamed synovial tissues from OA patients and 10 noninflamed synovial controls was quantified using real-time polymerase chain reaction.Results Plasma glypican-3 levels were significantly lower in OA patients than in healthy controls (P= 0.03), whereas synovial fluid glypican-3 levels were remarkably greater than in paired plasma samples of OA patients (P< 0.001). Subsequent analysis demonstrated that plasma and synovial fluid glypican-3 levels were inversely associated with the radiographic severity of knee OA (r= −0.691, P< 0.001; r= −0.646, P< 0.001, respectively). Furthermore, there was a positive relationship between plasma and synovial fluid glypican-3 levels in knee OA patients (r= 0.515, P< 0.001). Additionally, overexpression of glypican-3 mRNA was observed in inflamed synovium of OA patients (P= 0.021).Conclusions The present study revealed that plasma and synovial glypican-3 levels were negatively associated with radiographic severity of knee OA. Glypican-3 could emerge as a potential biomarker for reflecting the severity of knee OA and might play a plausible role in the pathophysiology of degenerative joint disease.

Published
2021
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38. Quality of life for older autistic people: The impact of mental health difficulties.

Author

Mason, D., Mackintosh, J., McConachie, H., Rodgers, J., Finch, T., and Parr, J.R.

Abstract

Having a mental health condition is related to significantly lower subjective Quality of Life (QoL) for people on the autism spectrum. Many autistic people do not participate in so-called 'normative' outcomes, i.e. the achievement of lifecourse goals judged to be important by adults in the general population (e.g. being employed). This study aimed to investigate whether there is an association between the presence of mental health conditions, subjective QoL and participation in normative outcomes in older autistic people. 69 autistic people (n = 48 males) aged 55 years and over were identified from two studies that are part of the UK Autism Spectrum Adulthood and Ageing research programme. Participants provided demographic data to establish normative outcome participation, and completed the World Health Organisation (WHO) QoL measure (WHOQoL-BREF) and the Hospital Anxiety and Depression Scale (HADS). Illustrative quotes focusing on normative outcomes were available from in-depth interviews (n = 8). QoL scores across all domains were lower for individuals who met indicative clinical cut-offs for depression (F (8,126) = 6.171, p < 0.001); findings were similar for anxiety (F (8,126) = 3.902, p < 0.001). Subjective QoL did not differ according to participation in normative outcomes (F (12,124.64) = 1.363, p = 0.192). The illustrative quotes suggested that aspects of daily life were related to QoL (i.e. friendships). For older autistic people, the presence and severity of a likely mental health condition (i.e anxiety and depression) were associated with poorer QoL. However, participation in general population lifecourse goals may not well represent QoL of older autistic people, suggesting that service supports should be individually responsive. [ABSTRACT FROM AUTHOR]

Published
2019
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39. "Older Adults with ASD: The Consequences of Aging." Insights from a series of special interest group meetings held at the International Society for Autism Research 2016–2017.

Author

Roestorf, A., Bowler, D.M., Deserno, M.K., Howlin, P., Klinger, L., McConachie, H., Parr, J.R., Powell, P., Van Heijst, B.F.C., and Geurts, H.M.

Abstract

A special interest group (SIG) entitled "Older Adults with ASD: The Consequences of Aging" was held at the International Society for Autism Research (INSAR) annual meetings in 2016 and 2017. The SIG and subsequent meetings brought together, for the first time, international delegates who were members of the autistic community, researchers, practitioners and service providers. Based on aging autism research that is already underway in UK, Europe, Australia and North America, discussions focussed on conceptualising the parameters of aging when referring to autism, and the measures that are appropriate to use with older adults when considering diagnostic assessment, cognitive factors and quality of life in older age. Thus, the aim of this SIG was to progress the research agenda on current and future directions for autism research in the context of aging. A global issue on how to define 'aging' when referring to ASD was at the forefront of discussions. The 'aging' concept can in principle refer to all developmental transitions. However, in this paper we focus on the cognitive and physical changes that take place from mid-life onwards. Accordingly, it was agreed that aging and ASD research should focus on adults over the age of 50 years, given the high rates of co-occurring physical and mental health concerns and increased risk of premature death in some individuals. Moreover, very little is known about the cognitive change, care needs and outcomes of autistic adults beyond this age. Discussions on the topics of diagnostic and cognitive assessments, and of quality of life and well-being were explored through shared knowledge about which measures are currently being used and which background questions should be asked to obtain comprehensive and informative developmental and medical histories. Accordingly, a survey was completed by SIG delegates who were representatives of international research groups across four continents, and who are currently conducting studies with older autistic adults. Considerable overlap was identified across different research groups in measures of both autism and quality of life, which pointed to combining data and shared learnings as the logical next step. Regarding the background questions that were asked, the different research groups covered similar topics but the groups differed in the way these questions were formulated when working with autistic adults across a range of cognitive abilities. It became clear that continued input from individuals on the autism spectrum is important to ensure that questionnaires used in ongoing and future are accessible and understandable for people across the whole autistic spectrum, including those with limited verbal abilities. [ABSTRACT FROM AUTHOR]

Published
2019
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40. An intervention for fears and phobias in young people with autism spectrum disorders using flat screen computer-delivered virtual reality and cognitive behaviour therapy.

Author

Maskey, Morag, McConachie, Helen, Rodgers, Jacqui, Grahame, Victoria, Maxwell, Jessica, Tavernor, Laura, and Parr, Jeremy R.

Abstract

Highlights • Anxiety is among the most common reasons for referral of children and adolescents with ASD to health services; many have situation specific anxiety, fear and phobias. • A recent review of treatment for fear and phobias in autism found, with one exception, only small studies of behavioural and cognitive behaviour therapy (CBT). • Adaptations to CBT have been advised by the National Institute for Health and Care Excellence (NICE) to increase the effectiveness of treatment for autistic people. Abstract Background Specific fears and phobias are common in young people with autism spectrum disorder (ASD) and can impact greatly on daily functioning. Traditional treatment methods, such as real-life or imaginal exposure, may not be suitable for this population without adaptation and alternative interventions are needed. In previous studies, we established that delivering graded exposure through computer generated scenes in a fully immersive virtual reality environment (the Blue Room) is an effective intervention for some young people with ASD and specific fears/phobias. In this study, we explored the same intervention delivered using flat screen, computer-delivered virtual reality graded exposure with cognitive behavioural therapy. Methods Eight young people with ASD received one psychoeducation session followed by four 20 minute sessions of flat screen, computer–delivered virtual reality graded exposure with cognitive behaviour therapy (CBT) sessions with a psychologist. Follow up measures, including Target Behaviour change ratings, were taken at 6 weeks, 6 months and 12 months after intervention. Results Four of the participants were classed as responders to the intervention and were able to function without the fear/phobia impacting their life. These improvements were maintained 12 months post-intervention. One participant was lost to follow-up and three participants were classed as non-responders to the intervention. Conclusions Findings show that flat screen computer-delivered virtual reality with cognitive behaviour therapy can be an effective intervention for specific fears and phobias for some young people with ASD. [ABSTRACT FROM AUTHOR]

Published
2019
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41. Gender differences in parent-reported age at diagnosis of children with autism spectrum disorder.

Author

Petrou, Alexandra M., Parr, Jeremy R., and McConachie, Helen

Abstract

Background Autism spectrum disorders (ASD) are more commonly observed in boys than in girls. There is growing awareness of ASD in girls and recognition that under-diagnosis is common. The current study aimed to investigate any evidence of reduction in the average age at diagnosis for girls by assessing whether: 1) girls’ age at diagnosis has reduced, compared to boys’, across two age cohorts – children born between 1996–1999 and 2002–2005; 2) age at diagnosis differed between boys and girls diagnosed across childhood; 3) any characteristics are associated with earlier age at diagnosis in girls. Methods Data were available from large UK databases of children with ASD: The Database of Children with Autism Spectrum Disorder Living in the North East ( http://daslne.org ) and the Autism Spectrum Database–UK ( www.asd-uk.com ). Results There was no differential reduction of parent-reported age at diagnosis for girls over time. For children receiving their diagnosis at age ≥60 months, boys received diagnoses an average of one year earlier than did girls (98.2 months, SD = 31.6 vs. 109.1 months, SD = 36.4). For boys and girls, earlier diagnosis was associated with toileting problems and temper problems. Having additional diagnoses (e.g., dyslexia, dyspraxia, and epilepsy) was associated with later diagnosis. Conclusions Age at diagnosis has not decreased over time. Girls with ASD are diagnosed later than boys when aged 5 years or older. Health and education professionals would benefit from better understanding factors such as toileting problems, temper problems, and additional diagnoses that could potentially guide early identification of ASD in clinical practice for school-age girls. [ABSTRACT FROM AUTHOR]

Published
2018
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42. Effect of Proximal Blood Flow Arrest During Endovascular Thrombectomy (ProFATE): A Multicenter, Blinded-End Point, Randomized Clinical Trial

Author

Dhillon, Permesh Singh, Butt, Waleed, Podlasek, Anna, Bhogal, Pervinder, Lynch, Jeremy, Booth, Thomas C., McConachie, Norman, Lenthall, Robert, Nair, Sujit, Malik, Luqman, Goddard, Tony, Carraro do Nascimento, Vinicius, Barrett, Emma, Jethwa, Ketan, Krishnan, Kailash, Dineen, Robert A., England, Timothy J., Aboufoul, Mahmoud, Ahmed, Gasim, Lamin, Saleh, Chew, Han Seng, Butler, Benjamin, Al-Ali, Samer, Makalanda, Levansri, Wong, Ken, and Lansley, Joseph

Published
2024
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43. Relations between specific and global outcome measures in a social-communication intervention for children with autism spectrum disorder.

Author

Nordahl-Hansen, Anders, Fletcher-Watson, Sue, McConachie, Helen, and Kaale, Anett

Abstract

Assessment of relevant outcomes is a key challenge in evaluating effects of social-communication interventions. However, few studies have investigated in what ways specific and more global measures may influence reported results of social-communication interventions for children with autism spectrum disorder (ASD). In this study both a specific and a global, more global autism symptom measure were used to assess effects of a brief social-communication intervention. Fifty-nine children (2–4 years) diagnosed with autistic disorder were assessed with the Joint Engagement (JE) states coding procedure and a preliminary version of the Brief Observation of Social Communication Change (BOSCC). A statistically significant difference was found between intervention and control groups from baseline to intervention endpoint on JE but not on BOSCC. Degree of change on the measures was moderately related, and both were independent of language level and non-verbal mental age. This study adds to the knowledge of what may be expected of different outcome measures and provides suggestions to how measures may be deployed to investigate underlying mechanisms and developmental pathways. [ABSTRACT FROM AUTHOR]

Published
2016
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44. Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHCand SDHD

Author

Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, and Maher, Eamonn R

Abstract

BackgroundGermline pathogenic variants in SDHB/SDHC/SDHDare the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tumours and elucidate genotype–phenotype correlations in a large cohort of SDHB/SDHC/SDHDmutation carriers.MethodsA retrospective survey of 1832 individuals referred for genetic testing due to a personal or family history of phaeochromocytoma/paraganglioma. 876 patients (401 previously reported) had a germline mutation in SDHB/SDHC/SDHD(n=673/43/160). Tumour risks were correlated with in silico structural prediction analyses.ResultsTumour risks analysis provided novel penetrance estimates and genotype–phenotype correlations. In addition to tumour type susceptibility differences for individual genes, we confirmed that the SDHD:p.Pro81Leu mutation has a distinct phenotype and identified increased age-related tumour risks with highly destabilising SDHBmissense mutations. By Kaplan-Meier analysis, the penetrance (cumulative risk of clinically apparent tumours) in SDHBand (paternally inherited) SDHDmutation-positive non-probands (n=371/67 with detailed clinical information) by age 60 years was 21.8% (95% CI 15.2% to 27.9%) and 43.2% (95% CI 25.4% to 56.7%), respectively. Risk of malignant disease at age 60 years in non-proband SDHBmutation carriers was 4.2%(95% CI 1.1% to 7.2%). With retrospective cohort analysis to adjust for ascertainment, cumulative tumour risks for SDHBmutation carriers at ages 60 years and 80 years were 23.9% (95% CI 20.9% to 27.4%) and 30.6% (95% CI 26.8% to 34.7%).ConclusionsOverall risks of clinically apparent tumours for SDHBmutation carriers are substantially lower than initially estimated and will improve counselling of affected families. Specific genotype–tumour risk associations provides a basis for novel investigative strategies into succinate dehydrogenase-related mechanisms of tumourigenesis and the development of personalised management for SDHB/SDHC/SDHDmutation carriers.

Published
2018
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45. Measuring the relationship between the parental Broader Autism Phenotype, parent–child interaction, and children’s progress following parent mediated intervention.

Author

Parr, Jeremy R., Gray, Laura, Wigham, Sarah, McConachie, Helen, and Couteur, Ann Le

Abstract

Parents of children with ASD may show ASD type behaviours including particular social communication interaction styles—the Broader Autism Phenotype (BAP). Understanding the potential impact of defined parent characteristics may be relevant when designing and evaluating the efficacy and effectiveness of parent-mediated interventions. In this proof of principle analysis, 18 mothers who had taken part in an early parent-mediated intervention later completed Family History Interviews. Parent data were split into lower and higher BAP groups. There was a significant negative correlation between BAP factor total scores and mother–child interaction total and post-intervention change scores. Change in number of words understood was significantly greater in children of mothers scoring in the lower BAP group compared with children of mothers in the higher BAP group. These preliminary findings provide some support for further investigation of parent BAP status as a potential moderator of the impact of early parent-mediated psychosocial interventions. [ABSTRACT FROM AUTHOR]

Published
2015
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46. Long haul? The Edinburgh jet sent to Cologne.

Author

Darren McConachie

Abstract

WEARY passengers were left fuming and stranded in Germany after four flights to Edinburgh were diverted due to Storm Isha. [ABSTRACT FROM PUBLISHER]

Published
2024

48. Designing for young children with autism spectrum disorder: A case study of an iPad app

Author

Fletcher-Watson, S., Pain, H., Hammond, S., Humphry, A., and McConachie, H.

Abstract

Individuals with autism spectrum disorders often benefit from technology-based intervention. Technologies being marketed to the autism community, and relevant published research, are proliferating. However, in the context of research in health and education, the requirement for an effective design process is not necessarily recognised. Understanding this process is necessary to facilitate recommendations about best practice in technology design and implementation where the end result is being applied in a health or education context. This report describes the development of an iPad app designed for very young children with autism. We describe methods for user-centred design with relevant stakeholders, expert evaluation and pilot testing of demo versions of the app, and their consequences for the finished game. In a final evaluation with 41 pre-schoolers with autism, average game play over a 2 month period was 11 minutes per day, with no evidence of obsessive behaviour. We discuss how this approach permits individual studies to inform the design of multiple technologies, contributing to dissemination of high standards in how therapeutic and educational technologies for specific populations are designed, pilot-tested and reported.

Published
2016
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50. Relations among restricted and repetitive behaviors, anxiety and sensory features in children with autism spectrum disorders.

Author

Lidstone, Jane, Uljarević, Mirko, Sullivan, Jillian, Rodgers, Jacqui, McConachie, Helen, Freeston, Mark, Le Couteur, Ann, Prior, Margot, and Leekam, Susan

Abstract

Highlights: [•] Factor analysis using the RBQ-2 resulted in two subtypes of repetitive behavior. [•] One subtype, insistence on sameness (IS), was found to be associated to anxiety. [•] The association between IS and anxiety was mediated by sensory features. [Copyright &y& Elsevier]

Published
2014
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