Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

The Effects Of Input Device And Latency On Ability To Effectively Pilot A Simulated Micro-Uav

The effects of input device and latency during training to manually pilot a simulated micro-unmanned aerial vehicle (MAV) were investigated. In our prior simulation research, MAV missions were completed more quickly when trainees used a game controller than when they used a mouse. This experiment investigated whether this difference would persist when participants were tested in a novel environment and when some realistic latency was imposed between input command and MAV response. Fifty-six participants were trained to operate a MAV in one simulated environment and then tested in a novel environment. Four between-group conditions were examined, formed by crossing two 2-level factors: input device (mouse vs. game controller) and latency period (no time delay vs. 500 ms delay). The effects of input device replicated our prior research and also transferred to the novel environment; no substantial effects of delay were found

Mission Completion Time Is Sensitive To Teleoperation Performance During Simulated Reconnaissance Missions With A Micro-Unmanned Aerial Vehicle

In prior research, we found that temporal measures were affected by input device (game controller vs. mouse); however, other measures were not (e.g., number of targets detected, or number of collisions). The main purpose of the present research was to investigate the sensitivity of a temporal performance measure for simulated reconnaissance missions. Instead of measuring number of targets photographed in a fixed amount of time, this study measured time to photograph a set number of targets. Twenty participants went through simulation-based micro-unmanned aerial vehicle operator training, including three skill courses and two reconnaissance missions. Half the participants used a mouse as their input device, whereas the rest used a game controller. Mission completion time was found to be faster when participants used the game controller than when they used the mouse, for both skill missions and reconnaissance missions. Effective simulation-based training for micro-unmanned vehicles operators requires both relevant simulated missions and objective performance feedback and mastery criteria. These results suggest that mission completion time could provide a good performance measure for this purpose

Effect Of Icon Affiliation And Distance Moved On Detection Of Icon Position Change On A Situation Awareness Display

Continuous gradual change is often difficult to detect, although it may be easy to detect the difference between the initial and end state if directly compared. Two experiments examined people\u27s ability to detect gradual changes in icon position on a situation awareness map. People observed sequences of icon moves that consisted of ten .9-mm colinear moves or five 8.75-mm colinear moves and reported when they noticed a change. The relatively small moves were less likely to be detected than the relatively large moves; however, an entire sequence of the .9 mm moves was rarely missed. Green icon moves were significantly less likely to be detected than blue or yellow icon moves. This may have been due to the stimulus features of the icons or those features in interaction with the map background. Various methods that might assist icon change detection are discussed. © Taylor & Francis Group, LLC

Human Factors And Trainability Of Piloting A Simulated Micro Unmanned Aerial Vehicle

In 2004, the U.S. Army Research Institute\u27s (ARI) Simulator Systems Research Unit began studies involving the training requirements for operators of a micro-unmanned aerial vehicle (MAV). Our research involved the use of a touch-screen operator control interface developed for the DARPA MAV Advanced Technology Demonstration. This control system allowed operators to plan and run autonomous flight missions or to tele-operate a simulated MAV around a static synthetic environment. An initial study focused primarily on the usability of the system. Extensive heuristic evaluations were conducted by seven volunteers with backgrounds in human factors and military training systems. Each evaluator completed a self-paced training session including exercises that tested their ability to perform various control functions. Lack of immediate feedback from touch-screen inputs and missing or obscure status information formed the basis of several of the usability issues. Manually piloting the MAV presented the most difficulty to operators. As such, a second study was conducted that focused specifically on manual control tasks. In this study, participants were trained on manual control of the MAV, and then completed four increasingly difficult missions, requiring them to pilot the vehicle through the synthetic environment. This experiment was designed to compare the effect of supplemental sensor imagery on mission performance. During Study 1, operators could choose to view a sensor image taken from a fixed camera pointed 15 degrees below horizontal or straight down (90 degrees), but only one view was available at a time. During Study 2, operators were provided with three sensor views simultaneously. The 15-degree view was presented in a primary sensor window, and two additional views were displayed in smaller windows below it. The camera angle of one of these supplemental views was the manipulated independent variable - 30, 60, or 90 degrees from horizontal. The remaining window always contained an overhead satellite view (downward view from 5000 feet above the MAV). Data were collected on time to complete each mission, the number of physical interactions each user made with the interface, SME ratings, workload, and usability. Results indicated that mission requirements had a greater effect on performance and workload ratings than the camera angle of the supplemental view, though the camera angle of the supplemental view did affect mission time required to capture images of designated target buildings. Session averages of workload, usability, mission completion time, and SME rating were significantly inter-correlated. Higher SME ratings were associated with lower participant ratings of workload, shorter mission completion times, and higher usability ratings

Flavour liking and preference conditioned by caffeine in humans

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Detection Of Icon Appearance And Disappearance On A Digital Situation Awareness Display

The potential for change detection failure during the monitoring of a military digital situation awareness map was investigated. Participants were asked to monitor the map for icon appearance or disappearance. A change accompanied by two other changes was detected 69.3% of the time, while the same change occurring alone was detected 79.6% of the time. When three changes occurred simultaneously, all three were detected only 37% of the time. Detection of icon appearance was superior to detection of icon disappearance, as might be expected from the literature on visual attention. The discussion addresses the need to represent change explicitly in such systems and suggests properties that a change detection aid should possess

How habitual caffeine consumption and dose influence flavour preference conditioning with caffeine

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A Testbed For Exploring Human-Robot Interaction With Unmanned Aerial And Ground Vehicles

Over the last twenty years, the emerging roles of unmanned aerial/ground vehicles in the U.S. military presented a number of different research opportunities in usability and training, ranging from robotic control interfaces to human-robot team collaboration. In this paper we present a testbed that we developed as a flexible software platform to explore a variety of training and coordination issues with UXVs for military application. © 2011 Springer-Verlag Berlin Heidelberg