COVID-19 and children with congenital anomalies:a European survey of parents' experiences of healthcare services

Objective: To survey parents and carers of children with a congenital anomaly across Europe about their experiences of healthcare services and support during the COVID-19 pandemic. Design: Cross-sectional study. Setting: Online survey in 10 European countries, open from 8 March 2021 to 14 July 2021. Population: 1070 parents and carers of children aged 0-10 years with a cleft lip, spina bifida, congenital heart defect (CHD) requiring surgery and/or Down syndrome. Main outcome measures: Parental views about: the provision of care for their child (cancellation/postponement of appointments, virtual appointments, access to medication), the impact of disruptions to healthcare on their child's health and well-being, and satisfaction with support from medical sources, organisations and close relationships. Results: Disruptions to healthcare appointments were significantly higher (p<0.001) in the UK and Poland, with approximately two-thirds of participants reporting â € cancelled or postponed' tests (67/101; 256/389) and procedures compared with approximately 20% in Germany (13/74) and Belgium/Netherlands (11/55). A third of participants in the UK and Poland reported â € cancelled or postponed' surgeries (22/72; 98/266) compared with only 8% in Germany (5/64). In Poland, 43% (136/314) of parents reported that changes to their child's ongoing treatment had moderately to severely affected their child's health, significantly higher than all other countries (p<0.001). Satisfaction ratings for support from general practitioners were lowest in the UK and Poland, and lowest in Poland and Italy for specialist doctors and nurses. Conclusion: A large proportion of participants reported disruptions to healthcare during the pandemic, which for some had a significant impact on their child's health. Regional differences in disruptions raise questions about the competence of certain healthcare systems to meet the needs of this vulnerable group of patients and indicate improvements should be strived for in some regions

Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey

Background: Parents of children who have a congenital anomaly can experience significant worry about their child’s health. Access to clear, helpful, and trustworthy information can provide a valuable source of support. In this study the aim was to explore the information needs of parents/carers of children with congenital anomalies across Europe. Method: A cross-sectional online survey was developed in nine languages to measure parents’ information needs, including: (1) the ‘helpfulness’/’trustworthiness’ of information received from eight relevant sources, and (2) overall satisfaction with information received. Parents/carers of children (0–10 years) with cleft lip, spina bifida, congenital heart defect [CHD] requiring surgery, and/or Down syndrome were recruited online via relevant organisations in 10 European countries from March-July 2021. Quantitative analyses using multivariable logistic regressions were performed. Results: One thousand seventy parents/carers of children with a cleft lip (n = 247), spina bifida (n = 118), CHD (n = 366), Down syndrome (n = 281), and Down syndrome with CHD (n = 58) were recruited in Poland (n = 476), the UK (n = 120), Germany (n = 97), the Netherlands/Belgium (n = 74), Croatia (n = 68), Italy (n = 59), other European countries (n = 92), and not specified/non-European countries (n = 84). Most participants were mothers (92%) and aged 31–40 years (71%). Participants were most likely to rate support groups (63%), patient organisations (60%), specialist doctors/nurses (58%), and social media (57%) as ‘very helpful’ information sources. ‘Very trustworthy’ ratings remained high for specialist doctors/nurses (61%), however, they declined for support groups (47%), patient organisations (48%), and social media (35%). Germany had the highest proportion of participants who were ‘very satisfied’ (44%, 95% CI = 34%-54%) with information, whereas this percentage was lowest in Croatia (11%, 95% CI = 3%-19%) and Poland (15%, 95% CI = 11%-18%). Parents of children with Down syndrome had significantly lower satisfaction ratings than parents of children with CHD; 13% (95% CI = 8%-18%) reported being ‘very satisfied’ compared to 28% (95% CI = 23%-33%) in the CHD group. Conclusions: Findings suggest that informal sources of information (e.g. support groups) are of value to parents, however, they are not deemed as trustworthy as specialist medical sources. Satisfaction ratings differed across countries and by anomaly, and were particularly low in Croatia and Poland, as well as for parents of children with Down syndrome, which warrants further investigation

Genome-wide physical activity interactions in adiposity:a meta-analysis of 200,452 adults

Abstract Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery

Novel loci achieving genome-wide significance (P<5x10^-8) in meta-analyses for PA-adjusted SNP main effect (P_adjPA) or the joint test of SNP main effect and SNP-PA interaction (P_joint).

<p>Novel loci achieving genome-wide significance (P<5x10^-8) in meta-analyses for PA-adjusted SNP main effect (P_adjPA) or the joint test of SNP main effect and SNP-PA interaction (P_joint).</p

Genes of biological interest within 500 kb of lead SNPs associated with WC_adjBMI or WHR_adjBMI.

<p>Genes of biological interest within 500 kb of lead SNPs associated with WC_adjBMI or WHR_adjBMI.</p

Genes of biological interest within 500 kb of lead SNPs associated with BMI.

<p>Genes of biological interest within 500 kb of lead SNPs associated with BMI.</p

Power to identify PA-adjusted main, joint or GxPA interaction effects in 200,000 individuals (45,000 inactive, 155,000 active).

<p>The plots compare power to identify genome-wide significant main effects (P_adjPA<5x10^-8, dashed black), joint effects (P_JOINT<5x10^-8, dotted green) or GxPA interaction effects (P_INT<5x10^-8, solid magenta) as well as the power to identify Bonferroni-corrected interaction effects (P_INT<0.05/number of loci, solid orange) for the SNPs that reached a genome-wide significant PA-adjusted main effect association (P_adjPA<5x10^-8). The power computations were based on analytical power formulae provided elsewhere [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006528#pgen.1006528.ref050" target="_blank">50</a>] and were conducted a-priori based on various types of known realistic BMI effect sizes [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006528#pgen.1006528.ref051" target="_blank">51</a>]. <b>Panels A, C, E</b>: Assuming an effect in inactive individuals similar to a small (, comparable to the known BMI effect of the <i>NUDT3</i> locus), medium (, comparable to the known BMI effect of the <i>BDNF</i> locus) and large (, comparable to the known BMI effect of the <i>FTO</i> locus) realistic effect on BMI and for various effects in physically active individuals (varied on the x axis); <b>Panels B,D,F</b>: Assuming an effect in physically active individuals similar to the small, medium and large realistic effects of the <i>NUDT3</i>, <i>BDNF and FTO</i> loci on BMI and for various effects in inactive individuals (varied on x axis).</p