Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.
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ABSTRACT:
SUBMITTER: Perry MS
PROVIDER: S-EPMC5967592 | biostudies-literature | 2018 Jan-Feb
REPOSITORIES: biostudies-literature
Publications
Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.
Perry M Scott MS Poduri Annapurna A
Epilepsy currents 20180101 1
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Project description:IntroductionYoung adults' e-cigarette use is associated with perceptions that e-cigarettes are less harmful or addictive than cigarettes, socially acceptable, and appealing. This study developed and tested vaping educational messages addressing these factors: 1) Harm Perceptions, 2) Addictiveness, 3) Social Use, and 4) Flavors.MethodsTwo message trials were conducted in U.S. Amazon Mechanical Turk workers aged 18-24 using a 2 (content: addiction, harm) × 3 (theme: alone, + flavors, + social) design with multiple messages in each of the six categories. Participants were assigned to view a random subset of messages and report on likeability and perceived message effectiveness (PME). Phase 1 (n = 200) tested 33 messages and 32 images. Phase 2 (n = 769) tested combinations of Phase 1's 24 most effective messages with 6 images rated most likeable or effective. Linear mixed effects models assessed the effect of content, theme, image, and their interactions on message response.ResultsIn both trials, most participants were past 30-day tobacco users. Harm content messages produced higher PME ratings than addiction content messages, and flavor theme messages were correlated with higher likeability scores than "content alone" theme messages. In Phase 2, flavor and social message themes decreased the PME of harm messages. There was no effect of images on either outcome controlling for the independent or interaction effects of content, theme, and image.ConclusionsMessages conveying the harms of vaping may be best for reducing vaping in young adult tobacco users; flavor and social themes may diminish their effectiveness.
| S-EPMC8085990 | biostudies-literature
Project description:This retrospective cohort study was designed to determine the yield of genetic tests in hypotonic infants and develop a diagnostic algorithm. Out of 496 patients identified by International Classification of Diseases (ICD) 9/10 coding, 324 patients met the inclusion criteria. Diagnostic yields were 32% for karyotype, 19% for microarray, 30% for targeted genetic tests, 38% for gene panels, and 31% for exome sequencing. In addition, we considered the diagnostic contribution of ancillary tests, including neuroimaging, metabolic tests, and so forth. The combination of microarray and exome sequencing gave the highest diagnostic yield. None of the other tests added significant value in arriving at a diagnosis. Based on these results we propose that the vast majority of infants with congenital hypotonia should start with a microarray and proceed with exome sequencing, with the notable exception of infants with clearly syndromic features in whom karyotyping or targeted testing may be more appropriate.
| S-EPMC9291145 | biostudies-literature
Project description:ObjectiveThe severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing.MethodsA population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases. SEI was defined as seizure onset before age 18 months, frequent seizures, epileptiform EEG, and failure of ≥2 antiepileptic drugs. Medical records, investigations, MRIs, and EEGs were analyzed, and genetic testing was performed if no etiology was identified. Economic modeling was performed to determine yield and cost-effectiveness of investigation of infants with unknown etiology at epilepsy onset, incorporating targeted WES at different stages of the diagnostic pathway.ResultsOf 114 infants with SEI (incidence = 54/100 000 live births/y), the etiology was determined in 76 (67%): acquired brain injuries (n = 14), focal cortical dysplasias (n = 14), other brain malformations (n = 17), channelopathies (n = 11), chromosomal (n = 9), metabolic (n = 6), and other genetic (n = 5) disorders. Modeling showed that incorporating targeted WES increased diagnostic yield compared to investigation without targeted WES (48/86 vs 39/86). Early targeted WES had lower total cost ($677 081 U.S. dollars [USD] vs $738 136 USD) than late targeted WES. A pathway with early targeted WES and limited metabolic testing yielded 7 additional diagnoses compared to investigation without targeted WES (46/86 vs 39/86), with lower total cost ($455 597 USD vs $661 103 USD), lower cost per diagnosis ($9904 USD vs $16 951 USD), and a dominant cost-effectiveness ratio.SignificanceSevere epilepsies occur in 1 in 2000 infants, with the etiology identified in two-thirds, most commonly malformative. Early use of targeted WES yields more diagnoses at lower cost. Early genetic diagnosis will enable timely administration of precision medicines, once developed, with the potential to improve long-term outcome.
| S-EPMC5990455 | biostudies-literature
Project description:The disease burden of Wuchereria bancrofti and Plasmodium falciparum malaria is high, particularly in Africa, and co-infection is common. However, the effects of filarial infection on the risk of severe malaria are unknown. We used the remaining serum samples from a large cohort study in Muheza, Tanzania to describe vector-borne filarial sero-reactivity among young children and to identify associations between exposure to filarial parasites and subsequent severe malaria infections. We identified positive filarial antibody responses (as well as positive antibody responses to Strongyloides stercoralis) among infants as young as six months. In addition, we found a significant association between filarial seropositivity at six months of age and subsequent severe malaria. Specifically, infants who developed severe malaria by one year of age were 3.9 times more likely (OR = 3.9, 95% CI: 1.2, 13.0) to have been seropositive for filarial antigen at six months of age compared with infants who did not develop severe malaria.
| S-EPMC5886694 | biostudies-literature
Project description:BackgroundMany updates to young child feeding recommendations have been published over the past decade, but concurrent intake trends have not been assessed.ObjectiveThe aim of this study was to evaluate adequacy and trends in energy and nutrient intakes of US infants and children aged 0-47.9 mo through use of Feeding Infants and Toddlers Study (FITS) data from 2002, 2008, and 2016.MethodsFITS are cross-sectional surveys of parents/caregivers of infants and young children (FITS 2002, n = 2962; FITS 2008, n = 3276; FITS 2016, n = 3235). Dietary intakes were assessed by telephone with trained interviewers using the Nutrition Data System for Research. Mean ± SE nutrient intakes were calculated. Diet adequacy was assessed with the nutrient adequacy ratio (NAR) for 17 nutrients and the corresponding mean adequacy ratio.ResultsEnergy and macronutrient intakes were generally stable across surveys, but significant decreases for saturated fat and total sugars and an increase in fiber were observed among 6-11.9-mo-olds and 12-23.9-mo-olds (P-trend < 0.0001). Mean sodium intakes exceeded Adequate Intakes (AI) for all ages, whereas fiber intakes were universally below the AI. Nutrients with the lowest NAR values were vitamin D (range 0.41-0.67/1.00) and vitamin E (range 0.60-0.79/1.00 for 2008 and 2016). For iron, infants aged 6-11.9 mo had the lowest NAR values at 0.77-0.88/1.00, compared to 0.85-0.89/1.00 for 12-47.9-mo-olds. Potassium was low from 12 to 47.9 mo (NAR range 0.55-0.63/1.00 across survey years). The nutrients with the greatest decline in mean intakes were iron and vitamins D and E among 6-11.9-mo-olds, and vitamin D and potassium among 12-23.9-mo-olds in 2016 compared to 2002.ConclusionsThe diets of US infants and young children were generally adequate for most micronutrients and stable over time, but sodium intakes were too high, and nutrient gaps still existed, especially for vitamins D, E, and fiber across ages and for iron among infants.
| S-EPMC6602894 | biostudies-literature
Project description:BackgroundThe objective of this literature review was to determine whether crowding in the home is associated with an increased risk of severe respiratory syncytial virus (RSV) disease in children younger than 5 years.MethodsA computerized literature search of PubMed and EMBASE was conducted on residential crowding as a risk factor for laboratory-confirmed RSV illness in children younger than 5 years. Study populations were stratified by high-risk populations, defined by prematurity, chronic lung disease of prematurity, hemodynamically significant congenital heart disease, or specific at-risk ethnicity (i.e. Alaska Native, Inuit), and mixed-risk populations, including general populations of mostly healthy children. The search was conducted for articles published from January 1, 1985, to October 8, 2009, and was limited to studies reported in English. To avoid indexing bias in the computerized databases, the search included terms for multivariate analysis and risk factors to identify studies in which residential crowding was evaluated but was not significant. Methodological quality of included studies was assessed using a Cochrane risk of bias tool.ResultsThe search identified 20 relevant studies that were conducted in geographically diverse locations. Among studies of patients in high-risk populations, 7 of 9 found a statistically significant association with a crowding variable; in studies in mixed-risk populations, 9 of 11 found a significant association with a crowding variable. In studies of high-risk children, residential crowding significantly increased the odds of laboratory-confirmed RSV hospitalization (i.e. odds ratio ranged from 1.45 to 2.85). In studies of mixed-risk populations, the adjusted odds ratios ranged from 1.23 to 9.1. The findings on the effect of residential crowding on outpatient RSV lower respiratory tract infection were inconsistent.ConclusionsResidential crowding was associated with an increased risk of laboratory-confirmed RSV hospitalization among high-risk infants and young children. This association was consistent despite differences in definitions of residential crowding, populations, or geographic locations.
| S-EPMC3405464 | biostudies-literature
Project description:BackgroundEndogenous glutamine biosynthesis may be insufficient to meet the needs of people with severe gastrointestinal disease. Results from studies using experimental animal models of gastrointestinal disease have suggested that glutamine supplementation improves clinical outcomes. This review examines evidence on the effect of glutamine supplementation in young infants with severe gastrointestinal disease.ObjectivesTo assess the effect of supplemental glutamine on mortality and morbidity in young infants with severe gastrointestinal disease.Search methodsWe searcheed the Cochrane Central Register of Controlled Trials (The Cochrane Library, 2014, Issue 8), MEDLINE, EMBASE, and CINAHL (from inception to September 2014), conference proceedings, and reference lists from previous reviews.Selection criteriaRandomised or quasi-randomised controlled trials that compared glutamine supplementation versus no glutamine supplementation in infants up to three months old (corrected for preterm birth if necessary) with severe gastrointestinal disease defined as a congenital or acquired gastrointestinal condition that is likely to necessitate providing parenteral nutrition for at least 24 hours.Data collection and analysisTwo review authors assessed trial eligibility and risk of bias and undertook data extraction independently. We analysed the treatment effects in the individual trials and reported the risk ratio (RR) and risk difference (RD) for dichotomous data and mean difference for continuous data, with 95% confidence intervals (CI). We used a fixed-effect model in meta-analyses and explored the potential causes of heterogeneity in sensitivity analyses.Main resultsWe found three trials in which a total of 274 infants participated. The trials were of good methodological quality but were too small to detect clinically important effects of glutamine supplementation. Meta-analyses did not reveal a statistically significant difference in the risk of death before hospital discharge (typical RR 0.79, 95% CI 0.19 to 3.20; typical RD -0.01, 95% CI -0.05 to 0.03) or in the rate of invasive infection (typical RR 1.37, 95% CI 0.89 to 2.11; typical RD 0.08, 95% CI -0.03 to 0.18]).Authors' conclusionsThe available data from randomised controlled trials do not suggest that glutamine supplementation has any important benefits for young infants with severe gastrointestinal disease.
| S-EPMC10082939 | biostudies-literature
Project description:Early childhood is a critical time for establishing food preferences and dietary habits. In order for appropriate advice to be available to parents and healthcare professionals it is essential for researchers to understand the ways in which children learn about foods. This review summarizes the literature relating to the role played by known developmental learning processes in the establishment of early eating behavior, food preferences and general knowledge about food, and identifies gaps in our knowledge that remain to be explored. A systematic literature search identified 48 papers exploring how young children learn about food from the start of complementary feeding to 36 months of age. The majority of the papers focus on evaluative components of children's learning about food, such as their food preferences, liking and acceptance. A smaller number of papers focus on other aspects of what and how children learn about food, such as a food's origins or appropriate eating contexts. The review identified papers relating to four developmental learning processes: (1) Familiarization to a food through repeated exposure to its taste, texture or appearance. This was found to be an effective technique for learning about foods, especially for children at the younger end of our age range. (2) Observational learning of food choice. Imitation of others' eating behavior was also found to play an important role in the first years of life. (3) Associative learning through flavor-nutrient and flavor-flavor learning (FFL). Although the subject of much investigation, conditioning techniques were not found to play a major role in shaping the food preferences of infants in the post-weaning and toddler periods. (4) Categorization of foods. The direct effects of the ability to categorize foods have been little studied in this age group. However, the literature suggests that what infants are willing to consume depends on their ability to recognize items on their plate as familiar exemplars of that food type.
| S-EPMC5524770 | biostudies-other
Project description:ObjectiveEarly detection of specific signs and symptoms to predict severe illness is essential to prevent infant mortality. As a continuation of the results from the multicenter Young Infants Clinical Signs and Symptoms (YICSS) study, we present here the performance of the seven-sign algorithm in 3 age categories (0-6 days, 7-27 days and 28-59 days) in Pakistani infants aged 0-59 days.ResultsFrom September 2003 to November 2004, 2950 infants were enrolled (age group 0-6 days = 1633, 7-27 days = 817, 28-59 days = 500). The common reason for seeking care was umbilical redness or discharge (29.2%) in the 0-6 days group. Older age groups presented with cough (16.9%) in the 7-27 age group and (26.9%) infants in the 28-59 days group. Severe infection/sepsis was the most common primary diagnoses in infants requiring hospitalization across all age groups. The algorithm performed well in every age group, with a sensitivity of 85.9% and specificity of 71.6% in the 0-6 days age group and a sensitivity of 80.5% and specificity of 80.2% in the 28-59 days group; the sensitivity was slightly lower in the 7-27 age group (72.4%) but the specificity remained high (83.1%).
| S-EPMC7903754 | biostudies-literature
Project description:The effect of genetic variation on the neutralizing antibody response to respiratory syncytial virus (RSV) is poorly understood. In this study, acute- and convalescent-phase sera were evaluated against different RSV strains. The proportion of individuals with homologous seroconversion was greater than that among individuals with heterologous seroconversion among those infected with RSV group A (50% vs 12.5%; P = .0005) or RSV group B (40% vs 8%; P = .008). Seroconversion to BA genotype or non-BA genotype test viruses was similar among individuals infected with non-BA virus (35% vs 50%; P = .4) or BA virus (50% vs 65%; P = .4). The RSV neutralizing response is group specific. The BA-associated genetic change did not confer an ability to escape neutralizing responses to previous non-BA viruses.
| S-EPMC3541697 | biostudies-literature