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1.
Med Decis Making ; 44(2): 203-216, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38178591

RESUMO

INTRODUCTION: Discrete choice experiments (DCE) are commonly used to elicit patient preferences and to determine the relative importance of attributes but can be complex and costly to administer. Simpler methods that measure relative importance exist, such as swing weighting with direct rating (SW-DR), but there is little empirical evidence comparing the two. This study aimed to directly compare attribute relative importance rankings and weights elicited using a DCE and SW-DR. METHODS: A total of 307 patients with non-small-cell lung cancer in Italy and Belgium completed an online survey assessing preferences for cancer treatment using DCE and SW-DR. The relative importance of the attributes was determined using a random parameter logit model for the DCE and rank order centroid method (ROC) for SW-DR. Differences in relative importance ranking and weights between the methods were assessed using Cohen's weighted kappa and Dirichlet regression. Feedback on ease of understanding and answering the 2 tasks was also collected. RESULTS: Most respondents (>65%) found both tasks (very) easy to understand and answer. The same attribute, survival, was ranked most important irrespective of the methods applied. The overall ranking of the attributes on an aggregate level differed significantly between DCE and SW-ROC (P < 0.01). Greater differences in attribute weights between attributes were reported in DCE compared with SW-DR (P < 0.01). Agreement between the individual-level attribute ranking across methods was moderate (weighted Kappa 0.53-0.55). CONCLUSION: Significant differences in attribute importance between DCE and SW-DR were found. Respondents reported both methods being relatively easy to understand and answer. Further studies confirming these findings are warranted. Such studies will help to provide accurate guidance for methods selection when studying relative attribute importance across a wide array of preference-relevant decisions. HIGHLIGHTS: Both DCEs and SW tasks can be used to determine attribute relative importance rankings and weights; however, little evidence exists empirically comparing these methods in terms of outcomes or respondent usability.Most respondents found the DCE and SW tasks very easy or easy to understand and answer.A direct comparison of DCE and SW found significant differences in attribute importance rankings and weights as well as a greater spread in the DCE-derived attribute relative importance weights.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Comportamento de Escolha , Preferência do Paciente , Neoplasias Pulmonares/terapia , Carcinoma Pulmonar de Células não Pequenas/terapia , Inquéritos e Questionários
2.
Psychol Med ; 53(16): 7707-7719, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37381780

RESUMO

BACKGROUND: Mental health problems are elevated in autistic individuals but there is limited evidence on the developmental course of problems across childhood. We compare the level and growth of anxious-depressed, behavioral and attention problems in an autistic and typically developing (TD) cohort. METHODS: Latent growth curve models were applied to repeated parent-report Child Behavior Checklist data from age 2-10 years in an inception cohort of autistic children (Pathways, N = 397; 84% boys) and a general population TD cohort (Wirral Child Health and Development Study; WCHADS; N = 884, 49% boys). Percentile plots were generated to quantify the differences between autistic and TD children. RESULTS: Autistic children showed elevated levels of mental health problems, but this was substantially reduced by accounting for IQ and sex differences between the autistic and TD samples. There was small differences in growth patterns; anxious-depressed problems were particularly elevated at preschool and attention problems at late childhood. Higher family income predicted lower base-level on all three dimensions, but steeper increase of anxious-depressed problems. Higher IQ predicted lower level of attention problems and faster decline over childhood. Female sex predicted higher level of anxious-depressed and faster decline in behavioral problems. Social-affect autism symptom severity predicted elevated level of attention problems. Autistic girls' problems were particularly elevated relative to their same-sex non-autistic peers. CONCLUSIONS: Autistic children, and especially girls, show elevated mental health problems compared to TD children and there are some differences in predictors. Assessment of mental health should be integrated into clinical practice for autistic children.


Assuntos
Transtorno Autístico , Comportamento Problema , Pré-Escolar , Humanos , Criança , Masculino , Feminino , Emoções , Pais , Atenção
4.
Rev Sci Instrum ; 94(5)2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37184347

RESUMO

We report on progress implementing and testing cryogenically cooled platforms for Magnetized Liner Inertial Fusion (MagLIF) experiments. Two cryogenically cooled experimental platforms were developed: an integrated platform fielded on the Z pulsed power generator that combines magnetization, laser preheat, and pulsed-power-driven fuel compression and a laser-only platform in a separate chamber that enables measurements of the laser preheat energy using shadowgraphy measurements. The laser-only experiments suggest that ∼89% ± 10% of the incident energy is coupled to the fuel in cooled targets across the energy range tested, significantly higher than previous warm experiments that achieved at most 67% coupling and in line with simulation predictions. The laser preheat configuration was applied to a cryogenically cooled integrated experiment that used a novel cryostat configuration that cooled the MagLIF liner from both ends. The integrated experiment, z3576, coupled 2.32 ± 0.25 kJ preheat energy to the fuel, the highest to-date, demonstrated excellent temperature control and nominal current delivery, and produced one of the highest pressure stagnations as determined by a Bayesian analysis of the data.

5.
Brain Stimul ; 15(6): 1451-1462, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36374738

RESUMO

The in vitro study demonstrates wirelessly controlled modulation of neural activity using magnetoelectric nanoparticles (MENPs), synchronized to magnetic field application with a sub-25-msec temporal response. Herein, MENPs are sub-30-nm CoFe2O4@BaTiO3 core-shell nanostructures. MENPs were added to E18 rat hippocampal cell cultures (0.5 µg of MENPs per 100,000 neurons) tagged with fluorescent Ca2+ sensitive indicator cal520. MENPs were shown to wirelessly induce calcium transients which were synchronized with application of 1200-Oe bipolar 25-msec magnetic pulses at a rate of 20 pulses/sec. The observed calcium transients were similar, in shape and magnitude, to those generated through the control electric field stimulation with a 50-µA current, and they were inhibited by the sodium channel blocker tetrodotoxin. The observed MENP-based magnetic excitation of neural activity is in agreement with the non-linear M - H hysteresis loop of the MENPs, wherein the MENPs' coercivity value sets the threshold for the externally applied magnetic field.


Assuntos
Cálcio , Nanopartículas , Ratos , Animais , Campos Magnéticos , Nanopartículas/química , Neurônios/fisiologia
6.
Insects ; 13(5)2022 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-35621792

RESUMO

A new device for assessing Varroa destructor (Anderson−Truman) mite infestations in honey bee colonies was designed, tested, and evaluated against the sugar roll method, a widely used method by beekeepers. The Varroa Shaker Device (VSD) is constructed of polyvinyl chloride (PVC) pipe that separates into three parts. Inside the shaker there are two mesh sizes; the larger mesh separates the bees from the mites, and the smaller mesh captures the mites. The VSD can be used by shaking bees with only water as the wash solution. The recovery of mites using the VSD is >90%, which is such as that recorded for using the sugar roll method. Our tests demonstrated that the VSD accurately assessed mite loads when fewer than 250 bees were sampled and shaken with 250 mL of water for one minute. To assure accurate mite counts are achieved with any sampling device, honey bees should be taken from frames with an open and/or capped brood where the mites are more likely located. The VSD can be used in both laboratory and field settings to accurately assess honey bee colonies for levels of mite infestation or for collecting live mites for research purposes.

7.
Brain Res ; 1781: 147823, 2022 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-35151654

RESUMO

Poor maternal sleep quality during the different phases of pregnancy acts as a prenatal stress and is critical for fetal development. Despite the potential adverse effects of maternal stress on the behavior and physiology of the offspring, the mechanisms remain poorly understood. The present study investigates the effects of maternal sleep deprivation (SD) at different stages of pregnancy on the hypothalamic-pituitary-adrenal (HPA) axis in female offspring. The pregnant rats were subjected to sleep deprivation of 12 h per day at different stages; early (ESD), mid (MSD), and late (LSD) stages, on pregnancy days 1-7, 8-14, and 14-20, respectively. At postnatal day 60, levels of corticosterone (CORT), hypothalamic corticotropin-releasing factor receptor 1 (CRF-R1), and hippocampal glucocorticoid receptors (GR) were evaluated in the offspring. Although the hypothalamic CRF-R1 level was increased in the offspring of SD dams, immunohistochemical staining showed reduced immunoreactivity of GR in ESD and LSD offspring hippocampal area. Altogether, the data suggests that a critical period for adverse effects of SD on the HPA axis in female offspring of Wistar rats may be during early and late pregnancy.


Assuntos
Sistema Hipófise-Suprarrenal , Efeitos Tardios da Exposição Pré-Natal , Animais , Feminino , Humanos , Gravidez , Ratos , Corticosterona , Hormônio Liberador da Corticotropina/metabolismo , Sistema Hipotálamo-Hipofisário/metabolismo , Sistema Hipófise-Suprarrenal/metabolismo , Ratos Wistar , Receptores de Glucocorticoides/metabolismo , Privação do Sono , Sono REM
8.
Exp Astron (Dordr) ; 54(2-3): 677-693, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36915620

RESUMO

Current plans within the European Space Agency (ESA) for the future investigation of Mars (after the ExoMars programme) are centred around participation in the Mars Sample Return (MSR) programme led by NASA. This programme is housed within the Human and Robotic Exploration (HRE) Directorate of ESA. This White Paper, in response to the Voyage 2050 call, focuses on the important scientific objectives for the investigation of Mars outside the present HRE planning. The achievement of these objectives by Science Directorate missions is entirely consistent with ESA's Science Programme. We illustrate this with a theme centred around the study of the Martian polar caps and the investigation of recent (Amazonian) climate change produced by known oscillations in Mars' orbital parameters. Deciphering the record of climate contained within the polar caps would allow us to learn about the climatic evolution of another planet over the past few to hundreds of millions of years, and also addresses the more general goal of investigating volatile-related dynamic processes in the Solar System.

9.
Mol Autism ; 12(1): 57, 2021 08 14.
Artigo em Inglês | MEDLINE | ID: mdl-34391468

RESUMO

BACKGROUND: Restricted and repetitive behavior (RRB) is one of the characteristic features of Autism Spectrum Disorder. This domain of symptoms includes a broad range of behaviors. There is a need to study each behavior individually to better understand the role of each in the development of autistic children. Moreover, there are currently no longitudinal studies investigating change in these behaviors over development. METHODS: The goal of the present study was to explore the association between age and non-verbal IQ (NVIQ) on 15 RRB symptoms included in the Autism Diagnostic Interview-Revised (ADI-R) over time. A total of 205 children with ASD were assessed using the ADI-R at time of diagnosis, at age 6 years, and at age 11 years, and with the Wechsler Intelligence Scales for Children-Fourth Edition (WISC-IV) at age 8 years. RESULTS: The proportion of children showing each RRB tended to diminish with increasing age, except for sensitivity to noise and circumscribed interests, where the proportion increased over time. Although there was no significant main effect of NVIQ, there was a significant interaction between age and NVIQ. This was mainly driven by Difficulties with change in routine, for which higher NVIQ was associated with the behavior remaining relatively stable with age, while lower NVIQ was associated with the behavior becoming more prevalent with age. LIMITATIONS: The study focused on the presence/absence of each RRB but did not account for potential changes in frequency or severity of the behaviors over development. Furthermore, some limitations are inherent to the measures used. The ADI-R relies on parent report and hence has some level of subjectivity, while the Wechsler intelligence scales can underestimate the intellectual abilities of some autistic children. CONCLUSIONS: These results confirm that specific RRB are differentially linked to age and NVIQ. Studying RRB individually is a promising approach to better understanding how RRB change over the development of autistic children and are linked to other developmental domains.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/diagnóstico , Criança , Cognição , Humanos , Testes de Inteligência , Estudos Longitudinais
10.
Br J Radiol ; 94(1122): 20201407, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-33904763

RESUMO

OBJECTIVES: Small bowel obstruction is a common surgical emergency which can lead to bowel necrosis, perforation and death. Plain abdominal X-rays are frequently used as a first-line test but the availability of immediate expert radiological review is variable. The aim was to investigate the feasibility of using a deep learning model for automated identification of small bowel obstruction. METHODS: A total of 990 plain abdominal radiographs were collected, 445 with normal findings and 445 demonstrating small bowel obstruction. The images were labelled using the radiology reports, subsequent CT scans, surgical operation notes and enhanced radiological review. The data were used to develop a predictive model comprising an ensemble of five convolutional neural networks trained using transfer learning. RESULTS: The performance of the model was excellent with an area under the receiver operator curve (AUC) of 0.961, corresponding to sensitivity and specificity of 91 and 93% respectively. CONCLUSION: Deep learning can be used to identify small bowel obstruction on plain radiographs with a high degree of accuracy. A system such as this could be used to alert clinicians to the presence of urgent findings with the potential for expedited clinical review and improved patient outcomes. ADVANCES IN KNOWLEDGE: This paper describes a novel labelling method using composite clinical follow-up and demonstrates that ensemble models can be used effectively in medical imaging tasks. It also provides evidence that deep learning methods can be used to identify small bowel obstruction with high accuracy.


Assuntos
Aprendizado Profundo , Obstrução Intestinal/diagnóstico por imagem , Intestino Delgado , Radiografia Abdominal , Adulto , Idoso , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade
11.
J Plast Reconstr Aesthet Surg ; 74(2): 401-406, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33097434

RESUMO

At the time of writing, coronavirus disease-2019 (COVID-19) has affected 6.42 million people globally and over 380,000 deaths, with the United Kingdom now having the highest death rate in Europe. The plastic surgery department at Leeds Teaching Hospitals put necessary steps in place to maintain an excellent urgent elective and acute service whilst also managing COVID-positive medical patients in the ward. We describe the structures and pathways implemented together with complex decision-making, which has allowed us to respond early and effectively. We hope these lessons will prove a useful tool as we look to open conversations around the recovery of normal activity.


Assuntos
COVID-19 , Departamentos Hospitalares , Controle de Infecções , Neoplasias/cirurgia , Cirurgia Plástica , Ferimentos e Lesões/cirurgia , Adulto , COVID-19/epidemiologia , COVID-19/prevenção & controle , COVID-19/terapia , Gestão de Mudança , Criança , Transmissão de Doença Infecciosa/prevenção & controle , Procedimentos Cirúrgicos Eletivos , Departamentos Hospitalares/métodos , Departamentos Hospitalares/organização & administração , Departamentos Hospitalares/estatística & dados numéricos , Humanos , Controle de Infecções/métodos , Controle de Infecções/normas , Neoplasias/epidemiologia , Procedimentos de Cirurgia Plástica , SARS-CoV-2 , Cirurgia Plástica/educação , Cirurgia Plástica/organização & administração , Cirurgia Plástica/tendências , Ensino/organização & administração , Ensino/tendências , Reino Unido/epidemiologia , Ferimentos e Lesões/epidemiologia
12.
Case Rep Otolaryngol ; 2020: 8874754, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33204559

RESUMO

INTRODUCTION: Necrotising otitis externa (NOE) is a rare life-threatening complication of simple otitis externa which can be difficult to diagnose and manage. It is very rarely centred on the temporomandibular joint (TMJ). Fungi cause NOE in approximately 5-20% of patients, and a high index of suspicion is required for diagnosis, particularly when there is no improvement with prolonged topical and intravenous antibiotic therapy. OBJECTIVE: To report a novel case of fungal NOE centred on the left TMJ in an immunocompromised adult male with a focus on investigations and optimal management. Case Report. A 67-year-old male with comorbid chronic renal impairment presented to our otolaryngology department with prolonged left otalgia and otorrhoea. Subsequent cross-sectional imaging demonstrated left NOE centred on the TMJ. Poor resolution with prolonged courses of systemic and topical anti-pseudomonal antibiotics prompted maxillofacial surgical input for left TMJ exploration, washout, and biopsy from the joint capsule. The causative organism was identified as Aspergillus flavus on PCR analysis. The patient was successfully treated with oral posaconazole and repeated topical insertions of amphotericin B-soaked ribbon gauze to the left ear. Discussion. A combination of various imaging modalities including CT, MRI, Tc-99, and gallium-67 are utilised in clinical practice both to diagnose NOE and subsequently monitor disease progression or resolution. Immunocompromised patients with confirmed fungal NOE may require a combination of treatments including surgical debridement and prolonged antifungal therapy for a number of months, if not lifelong, treatment. Initiating empirical antifungal therapy may be justified in some patients. However, this should be judged on a case-by-case basis and guided by discussion with the local microbiology and infectious diseases departments. However, there is no national guideline or consensus regarding treatment of these patients, especially in cases of fungal NOE.

13.
Phys Rev Lett ; 125(15): 155002, 2020 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-33095639

RESUMO

We present experimental results from the first systematic study of performance scaling with drive parameters for a magnetoinertial fusion concept. In magnetized liner inertial fusion experiments, the burn-averaged ion temperature doubles to 3.1 keV and the primary deuterium-deuterium neutron yield increases by more than an order of magnitude to 1.1×10^{13} (2 kJ deuterium-tritium equivalent) through a simultaneous increase in the applied magnetic field (from 10.4 to 15.9 T), laser preheat energy (from 0.46 to 1.2 kJ), and current coupling (from 16 to 20 MA). Individual parametric scans of the initial magnetic field and laser preheat energy show the expected trends, demonstrating the importance of magnetic insulation and the impact of the Nernst effect for this concept. A drive-current scan shows that present experiments operate close to the point where implosion stability is a limiting factor in performance, demonstrating the need to raise fuel pressure as drive current is increased. Simulations that capture these experimental trends indicate that another order of magnitude increase in yield on the Z facility is possible with additional increases of input parameters.

14.
Rev Sci Instrum ; 91(4): 043106, 2020 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-32357691

RESUMO

Sandia's Z Pulsed Power Facility is able to dynamically compress matter to extreme states with exceptional uniformity, duration, and size, which are ideal for investigating fundamental material properties of high energy density conditions. X-ray diffraction (XRD) is a key atomic scale probe since it provides direct observation of the compression and strain of the crystal lattice and is used to detect, identify, and quantify phase transitions. Because of the destructive nature of Z-Dynamic Material Property (DMP) experiments and low signal vs background emission levels of XRD, it is very challenging to detect a diffraction signal close to the Z-DMP load and to recover the data. We have developed a new Spherical Crystal Diffraction Imager (SCDI) diagnostic to relay and image the diffracted x-ray pattern away from the load debris field. The SCDI diagnostic utilizes the Z-Beamlet laser to generate 6.2-keV Mn-Heα x rays to probe a shock-compressed material on the Z-DMP load. A spherically bent crystal composed of highly oriented pyrolytic graphite is used to collect and focus the diffracted x rays into a 1-in. thick tungsten housing, where an image plate is used to record the data.

15.
Acute Med ; 19(1): 4-14, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32226951

RESUMO

OBJECTIVE: To ensure clinicians can rely on point-of-care testing results, we assessed agreement between point-of-care tests for creatinine, urea, sodium, potassium, calcium, Hb, INR, CRP and subsequent corresponding laboratory tests. PARTICIPANTS: Community-dwelling adults referred to a community-based acute ambulatory care unit. INTERVENTIONS: The Abbott i-STATTM (Hb, clinical chemistry, INR) and the AfinionTM Analyser (CRP) and corresponding laboratory analyses. OUTCOMES: Agreement (Bland-Altman) and bias (Passing-Bablok regression). RESULTS: Among 462 adults we found an absolute mean difference between point-of-care and central laboratory analyses of 6.4g/L (95%LOA -7.9 to +20.6) for haemoglobin, -0.5mmol/L (95%LOA -4.5 to +3.5) for sodium, 0.2mmol/L (95%LOA -0.6 to +0.9) for potassium, 0.0mmol/L (95%LOA -0.3 to +0.3) for calcium, 9.0 µmol/L (95%LOA -18.5 to +36.4) for creatinine, 0.0mmol/L (95%LOA -2.7 to +2.6) for urea, -0.2 (95%LOA -2.4 to +2.0) for INR, -5.0 mg/L (95%LOA -24.4 to +14.4) for CRP. CONCLUSIONS: There was acceptable agreement and bias for these analytes, except for haemoglobin and creatinine.


Assuntos
Assistência Ambulatorial , Análise Química do Sangue/métodos , Testes Imediatos , Adulto , Humanos , Reprodutibilidade dos Testes
16.
Nat Commun ; 11(1): 1351, 2020 03 12.
Artigo em Inglês | MEDLINE | ID: mdl-32165619

RESUMO

The majority of variation in six traits critical to the growth, survival and reproduction of plant species is thought to be organised along just two dimensions, corresponding to strategies of plant size and resource acquisition. However, it is unknown whether global plant trait relationships extend to climatic extremes, and if these interspecific relationships are confounded by trait variation within species. We test whether trait relationships extend to the cold extremes of life on Earth using the largest database of tundra plant traits yet compiled. We show that tundra plants demonstrate remarkably similar resource economic traits, but not size traits, compared to global distributions, and exhibit the same two dimensions of trait variation. Three quarters of trait variation occurs among species, mirroring global estimates of interspecific trait variation. Plant trait relationships are thus generalizable to the edge of global trait-space, informing prediction of plant community change in a warming world.


Assuntos
Desenvolvimento Vegetal , Tundra , Clima , Ecossistema , Plantas/classificação , Plantas/genética
18.
J Comp Pathol ; 174: 13-17, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31955798

RESUMO

Placenta accreta is defined as abnormal adherence of the placenta to the uterine wall. Placenta accreta is recognized as a common problem in human medicine, but has apparently not been reported previously in great apes, despite similarity in their reproductive biology. A 36-year-old multiparous female Sumatran orangutan (Pongo abelii) and a 20-year-old nulliparous female chimpanzee (Pan troglodytes), with gross uterine and histological uterine vascular changes that are characteristic of placenta accreta, are presented.


Assuntos
Doenças dos Símios Antropoides/patologia , Placenta Acreta/veterinária , Animais , Feminino , Pan troglodytes , Placenta Acreta/patologia , Pongo abelii , Gravidez
19.
Dev Psychopathol ; 32(3): 1069-1085, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31489833

RESUMO

Moral reasoning and decision making help guide behavior and facilitate interpersonal relationships. Accounts of morality that position commonsense psychology as the foundation of moral development, (i.e., rationalist theories) have dominated research in morality in autism spectrum disorder (ASD). Given the well-documented differences in commonsense psychology among autistic individuals, researchers have investigated whether the development and execution of moral judgement and reasoning differs in this population compared with neurotypical individuals. In light of the diverse findings of investigations of moral development and reasoning in ASD, a summation and critical evaluation of the literature could help make sense of what is known about this important social-cognitive skill in ASD. To that end, we conducted a systematic review of the literature investigating moral decision making among autistic children and adults. Our search identified 29 studies. In this review, we synthesize the research in the area and provide suggestions for future research. Such research could include the application of an alternative theoretical framework to studying morality in autism spectrum disorder that does not assume a deficits-based perspective.


Assuntos
Transtorno do Espectro Autista , Adulto , Criança , Humanos , Relações Interpessoais , Julgamento , Princípios Morais , Comportamento Social
20.
Nat Commun ; 10(1): 5519, 2019 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-31801954

RESUMO

Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.


Assuntos
Transtorno do Espectro Autista/genética , Variações do Número de Cópias de DNA , Predisposição Genética para Doença/genética , Genoma Humano/genética , Genômica/métodos , Irmãos , Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Saúde da Família , Feminino , Humanos , Masculino , Linhagem , Fenótipo , Fatores de Risco
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