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We report a Delphi Consensus modification and first validation study of the Autism Diagnostic Observation Schedule -- 2 with deaf children and young people (ADOS-2 Deaf adaptation). Validation included 122 deaf participants (aged 2-18 years), 63 with an Autism Spectrum Disorder (ASD). This was compared to a National Institute for Health and Clinical Excellence (NICE) guideline standard clinical assessment by blinded independent specialist clinicians. Results showed overall sensitivity 73% (95%CI 60%, 83%); specificity 71% (95%CI 58%, 82%), and for the more common modules 1-3 (combined as in previous studies) sensitivity 79% (95% CI 65-89%); specificity 79% (95% CI 66-89%) suggesting this instrument will be a helpful addition for use with deaf children and young people.

A Delphi consensus methodology was used to adapt the Autism Diagnostic Interview--Revised for the assessment of deaf children with suspected autism spectrum disorder. Each Autism Diagnostic Interview--Revised item was considered by a panel of nine international experts in terms of relevance and acceptability. Modifications were proposed and agreed by the expert panel for 45% of items. The pre-specified criterion for agreement between experts was set at 80% for each item. A first validation of the revised version, adapted for deaf children (Autism Diagnostic Interview--Revised Deaf Adaptation), was undertaken with a UK sample of 78 parents/carers of deaf children with autism spectrum disorder and 126 parents/carers with deaf children without autism spectrum disorder. When compared to National Institute for Health and Care Excellence guideline standard clinical assessments, the Autism Diagnostic Interview--Revised Deaf Adaptation diagnostic algorithm cut-off/threshold scores achieved a sensitivity of 89% (79%-96%) and specificity of 81% (70%-89%) for autism spectrum disorder. The alpha coefficients for each algorithm symptom domain ranged from 0.80 to 0.91, suggesting that the items had high internal consistency. Our findings indicate that the Autism Diagnostic Interview--Revised Deaf Adaptation is likely to be a useful measure for the assessment of deaf children with suspected autism spectrum disorder, although further research is needed.

Left ventricular noncompaction cardiomyopathy is associated with heart failure, arrhythmia, and sudden cardiac death. The developmental mechanism underpinning noncompaction in the adult heart is still not fully understood, with lack of trabeculae compaction, hypertrabeculation, and loss of proliferation cited as possible causes. To study this, we utilised a mouse model of aberrant Rho kinase (ROCK) signalling in cardiomyocytes, which led to a noncompaction phenotype during embryogenesis, and monitored how this progressed after birth and into adulthood. The cause of the early noncompaction at E15.5 was attributed to a decrease in proliferation in the developing ventricular wall. By E18.5, the phenotype became patchy, with regions of noncompaction interspersed with thick compacted areas of ventricular wall. To study how this altered myoarchitecture of the heart influenced impulse propagation in the developing and adult heart, we used histology with immunohistochemistry for gap junction protein expression, optical mapping, and electrocardiography. At the prenatal stages, a clear reduction in left ventricular wall thickness, accompanied by abnormal conduction of the ectopically paced beat in that area, was observed in mutant hearts. This correlated with increased expression of connexin-40 and connexin-43 in noncompacted trabeculae. In postnatal stages, left ventricular noncompaction was resolved, but the right ventricular wall remained structurally abnormal through to adulthood with cardiomyocyte hypertrophy and retention of myocardial crypts. Thus, this is a novel model of self-correcting embryonic hypertrabeculation cardiomyopathy, but it highlights that remodelling potential differs between the left and right ventricles. We conclude that disruption of ROCK signalling induces both morphological and electrophysiological changes that evolve over time, highlighting the link between myocyte proliferation and noncompaction phenotypes and electrophysiological differentiation. [ABSTRACT FROM AUTHOR]

For nature conservation and planning, terrestrial ecosystems are commonly classified based on their plant communities. Although soils are fundamental to ecosystem functioning, ecosystem classifications based on soil organisms are rare, and it is poorly understood whether their assemblage compositions follow existing classification schemes. We examined whether commonly used ecosystem types capture variation in earthworm (Lumbricidae) assemblages—a crucial biotic component of soil ecosystems. To this end, we created four ecosystem classifications by combining large‐scale climatic classifications (Biogeographic Regions [BGR] and Holdridge Life Zones [HLZ]) with small‐scale land cover classifications (CORINE Land Cover [CLC] and European Nature Information System [EUNIS]). European earthworm assemblage data from the sWORM and Edaphobase databases were analysed for variation in composition within and among ecosystem types, using Permutational Analysis of Variance and Analysis of Similarities. Additionally, we used Typical Species Analysis to establish typical earthworm assemblages (TAs) for each ecosystem type. Ecosystem classifications using the BGR explained more variance than HLZ, but HLZ showed a higher separation of assemblages between ecosystem types. The differentiation between Atlantic and Continental climates in the BGR could explain the superiority over the HLZ, which had only one category for the cool temperate zone of our study region. The typical assemblages contained on average six species, with some habitat generalists present in most. This study shows that combinations of ecosystem properties from different spatial scales can be used to distinguish between earthworm assemblages at the European level. However, earthworm assemblages across Europe were highly similar due to low species richness and the dominance of a few widespread species. This limits the possibility of applying TAs on large spatial scales, for example, for environmental monitoring. We suggest that future studies should explore the use of more species‐rich groups of soil organisms to characterize ecosystem types. [ABSTRACT FROM AUTHOR]

A holistic review is given of the Southern Ocean dynamic system, in the context of the crucial role it plays in the global climate and the profound changes it is experiencing. The review focuses on connections between different components of the Southern Ocean dynamic system, drawing together contemporary perspectives from different research communities, with the objective of closing loops in our understanding of the complex network of feedbacks in the overall system. The review is targeted at researchers in Southern Ocean physical science with the ambition of broadening their knowledge beyond their specific field, and aims at facilitating better‐informed interdisciplinary collaborations. For the purposes of this review, the Southern Ocean dynamic system is divided into four main components: large‐scale circulation; cryosphere; turbulence; and gravity waves. Overviews are given of the key dynamical phenomena for each component, before describing the linkages between the components. The reviews are complemented by an overview of observed Southern Ocean trends and future climate projections. Priority research areas are identified to close remaining loops in our understanding of the Southern Ocean system. Plain Language Summary: The United Nations has identified 2021–2030 as the Decade of Ocean Science, with a goal to improve predictions of ocean and climate change. Improved understanding of the Southern Ocean is crucial to this effort, as it is the central hub of the global ocean. The Southern Ocean is the formation site for much of the dense water that fills the deep ocean, sequesters the majority of anthropogenic heat and carbon, and controls the flux of heat to Antarctica. The large‐scale circulation of the Southern Ocean is strongly influenced by interactions with sea ice and ice shelves, and is mediated by smaller scale processes, including eddies, waves, and mixing. The complex interplay between these dynamic processes remains poorly understood, limiting our ability to understand, model and predict changes to the Southern Ocean, global climate and sea level. This article provides a holistic review of Southern Ocean processes, connecting the smallest scales of ocean mixing to the global circulation and climate. It seeks to develop a common language and knowledge‐base across the Southern Ocean physical science community to facilitate knowledge‐sharing and collaboration, with the aim of closing loops on our understanding of one of the world's most dynamic regions. Key Points: Contemporary perspectives are reviewed on the different components of the Southern Ocean dynamic system from distinct research communitiesKey connections between different components of Southern Ocean dynamics are highlightedCross‐cutting priorities for future Southern Ocean physical science are identified [ABSTRACT FROM AUTHOR]

The PREDICTS project-Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)-has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of human impacts relating to land use. We have used this evidence base to develop global and regional statistical models of how local biodiversity responds to these measures. We describe and make freely available this 2016 release of the database, containing more than 3.2 million records sampled at over 26,000 locations and representing over 47,000 species. We outline how the database can help in answering a range of questions in ecology and conservation biology. To our knowledge, this is the largest and most geographically and taxonomically representative database of spatial comparisons of biodiversity that has been collated to date; it will be useful to researchers and international efforts wishing to model and understand the global status of biodiversity.

Background: Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences and challenges faced by physicians who have seen and treated patients with lipodystrophy. This study aimed to provide a better understanding of the physician's perspective regarding the patient journey in lipodystrophy, including diagnosis, the burden of disease, and treatment approaches. Methods: Thirty-three physicians from six countries who had seen or treated patients with lipodystrophy were interviewed using a semi-structured questionnaire. Interviews were transcribed, anonymized, and analyzed for themes and trends. Four main themes were developed: (1) the diagnostic journey in lipodystrophy including the disease features or 'triggers' that result in the onward referral of patients to specialist medical centers with experience in managing lipodystrophy; (2) the impact of lipodystrophy on patient quality of life (QoL); (3) the use of standard therapies and leptin replacement therapy (metreleptin) in lipodystrophy, and (4) barriers to metreleptin use. Results: Participants reported that, due to their rarity and phenotypic heterogeneity, lipodystrophy cases are frequently unrecognized, leading to delays in diagnosis and medical intervention. Early consultation with multidisciplinary specialist medical teams was recommended for suspected lipodystrophy cases. The development and progression of metabolic complications were identified as key triggers for the referral of patients to specialist centers for follow-up care. Participants emphasized the impact of lipodystrophy on patient QoL, including effects on mental health and self-image. Although participants routinely used standard medical therapies to treat specific metabolic complications associated with lipodystrophy, it was acknowledged that metreleptin was typically required in patients with congenital generalized lipodystrophy and in some acquired generalized and partial lipodystrophy cases. A lack of experience among some participants and restrictions to access remained as barriers to metreleptin use. Conclusions: To our knowledge, this is one of the first studies describing the qualitative experiences of physicians regarding the diagnosis and management of lipodystrophy. Other physician-centered studies may help increase the awareness of lipodystrophy among the wider medical community and support clinical approaches to this rare disease. [ABSTRACT FROM AUTHOR]

Standing meanders along the Antarctic Circumpolar Current (ACC) have been shown to be regions of elevated eddy variability, meridional heat transport, and vertical exchange. In this study, we investigate the influence of a standing meander south of Australia on air‐sea heat fluxes, upper ocean structure, and subduction in the 1/10° ACCESS‐OM2 ocean‐sea ice model forced by the JRA55 atmospheric reanalysis. We track the model's Subantarctic and Polar Fronts based on their jet and water mass structure, and produce composites of thermodynamical and dynamical properties of the meander in relaxed and flexed states. The standing meander induces trough‐to‐crest variations in surface heat flux, mixed layer depth (MLD), wind stress curl, vertical velocity, and subduction. At the crests, the ocean loses heat and the mixed layer is deeper; at the troughs, the ocean gains heat and the mixed layer is shallower. Wind stress curl, vertical velocity, and subduction change sign on entering and exiting crests and troughs. Vertical velocity due to the curvature of the meander is an order of magnitude larger than Ekman vertical velocity. The poleward excursion of Polar Front meander crests extends subduction to Antarctic Intermediate Water density classes. Finally, flexing of the meander enhances both air‐sea exchange and vertical velocity. The results show that standing meanders of the ACC influence the distribution and magnitude of air‐sea fluxes of heat and momentum and exchange between the surface and interior ocean. Plain Language Summary: Meanders along the Antarctic Circumpolar Current (ACC) funnel heat toward Antarctica. The research clarifies how meandering of ocean currents shapes air‐sea interaction and the transfer of surface ocean properties into the ocean interior in the ACC south of Australia. Meanders refer to curved patterns in the ACC's flow. We track specific ACC features and look at what is different inside and outside the meander in a computer model. We find that ocean meanders shape where the Southern Ocean gains and loses heat. These changes in heat exchange shape the mixed layer depth (MLD) in the ocean. The MLD is important for climate, biology productivity, and absorption of heat and carbon by the ocean. Meandering produces stronger vertical motion and increases sinking of water from the surface into the ocean interior, compared to regions where meanders are not present. When the meander flexes and becomes more curved, the vertical motion and atmosphere‐ocean exchange become even stronger. The results show that small‐scale patterns in ocean flow can have a strong influence on the atmosphere, with implications for climate and ocean circulation. These patterns are not well represented in climate models and our study is a step toward accounting for their absence. Key Points: Meanders in the Antarctic Circumpolar Current are locations of enhanced vertical velocity and air‐sea exchange of momentum and heatFlexing of the meander further enhances air‐sea exchange and vertical velocities due to increased curvaturePoleward excursion of meander crests extends subduction to Antarctic Intermediate Water densities along the Polar Front [ABSTRACT FROM AUTHOR]