The experiences and perceptions of healthy siblings of children with a long-term condition: Umbrella review

Problem: The lives of healthy siblings living with a sibling with a long- term condition are often shaped by the family, type of illness, length of illness, age of the child, caregiver demands, and support provided to the family, ill sibling, and healthy sibling. While the experiences of healthy siblings are documented in the literature by parent proxy, literature on healthy siblings self-reported experiences of living with a sibling who has a long-term condition remains scarce. Purpose: This umbrella review aims to synthesize reviews on the self-reported experiences of healthy siblings of children living with a sibling who has a long-term condition. Eligibility criteria: Published peer-reviewed reviews in English language exploring the self-reported experiences of healthy siblings under 24 years old, whose siblings are diagnosed with a long-term condition. Sample: Using a developed search strategy, seven electronic databases (CINAHLPlus, Scopus, PubMed, PsycINFO, Cochrane Database of Systematic Reviews, Clinical Key, and Google Scholar) were searched from 2018 till December 2023. Eleven reviews met the inclusion criteria and were subjected to narrative synthesis. Results: Four themes (adjusting to changes, wanting to help, living the ups and downs, living the changes), and eight subthemes were generated from the syntheses. Conclusion: This is the first umbrella review undertaken on healthy siblings self-reported experiences of living with a sibling who has a long-term condition. The impact of a long-term condition on healthy siblings of children with a long-term condition suggests a need for healthcare providers and organisations to provide better emotional, psychological, and informational support to healthy siblings and their families. Implications: Findings from this review will inform healthcare providers, organisations, researchers, and policymakers on the development of future clinical practices and research for healthy siblings

The Use of Family Engagement Principles by Childcare Providers From Various Childcare Settings: A Qualitative Study

Family engagement in childcare is important to ensure the optimal growth, development, and safety of children. Previous research has explored family engagement practices, but limited research is available on the application of theory to explain the uptake of family engagement principles. The purpose of this study was to explore the use and perceptions of the National Association of the Education for Young Children’s six principles of effective family engagement among childcare providers from various childcare settings following the Innovation-Decision Process of the Diffusion of Innovation Theory. A semi-structured interview with a card-sorting task was used to explore providers’ knowledge, adoption, and perceived difficulty of implementation as well as their perceived outcomes, reasoning for use or non-use, and advice on use of the family engagement principles. Notable findings suggest variance in childcare providers’ knowledge, adoption, and perceived difficulty of all six family engagement principles. Childcare providers mentioned various perceived outcomes and reasoning for use of principles, such as improved relationship with parents and enhanced child learning. Lack of time and perceived disinterest of parents were commonly reported difficulties for the use of family engagement principles. Future studies should expand upon the exploration of family engagement practices and comparison between different childcare settings and philosophies. Further efforts are needed to investigate effective integration and use of technology for communication

A qualitative comparison of parent and childcare provider perceptions of communication and family engagement in children\u27s healthy eating and physical activity

Background: Parents and childcare providers play a substantial role in the development of health behaviors among the children they care for. In order to ensure the optimal growth and development of children, communication and family engagement in childcare is critical. Previous studies examining parent or provider perceptions about healthy eating or physical activity have explored these concepts individually and/or have only included only parents or providers. Therefore, the purpose of this study was to compare childcare provider and parent perceptions of communication regarding healthy eating and physical activity as well as use of best practice strategies on family engagement for these topics. Methods: Childcare providers (n = 12) in childcare centers or a family childcare home and a parent (n = 12) of a child they provide care for participated in a semistructured interview guided by the Social Ecological Model. Interviews were transcribed verbatim and uploaded to NVivo for data analysis. Data were analyzed using a directed content analysis. Three trained qualitative researchers developed a codebook and then compared responses between parents and providers. Results: Similarities in provider and parent responses included agreement on healthy eating; influences on child development; parents being the most influential on children\u27s healthy eating; how they identified physical activity opportunities; and the use of family engagement principles. Differences that arose included parents\u27 roles in promoting children\u27s physical activity; challenges for parents in promoting healthy eating and physical activity; and providers\u27 encouragement of physical activity. Importantly, few parents mentioned providers were top influences on their child\u27s healthy eating or physical activity. Providers also mentioned having difficult conversations with parents was challenging. Conclusions: Future efforts are needed to (1) help parents understand the providers\u27 role in the development of their child\u27s health behaviors and (2) strengthen efforts to engage families in healthy behaviors outside of childcare facilities

The Use of Family Engagement Principles by Childcare Providers From Various Childcare Settings: A Qualitative Study

Family engagement in childcare is important to ensure the optimal growth, development, and safety of children. Previous research has explored family engagement practices, but limited research is available on the application of theory to explain the uptake of family engagement principles. The purpose of this study was to explore the use and perceptions of the National Association of the Education for Young Children’s six principles of effective family engagement among childcare providers from various childcare settings following the Innovation-Decision Process of the Diffusion of Innovation Theory. A semi-structured interview with a card-sorting task was used to explore providers’ knowledge, adoption, and perceived difficulty of implementation as well as their perceived outcomes, reasoning for use or non-use, and advice on use of the family engagement principles. Notable findings suggest variance in childcare providers’ knowledge, adoption, and perceived difficulty of all six family engagement principles. Childcare providers mentioned various perceived outcomes and reasoning for use of principles, such as improved relationship with parents and enhanced child learning. Lack of time and perceived disinterest of parents were commonly reported difficulties for the use of family engagement principles. Future studies should expand upon the exploration of family engagement practices and comparison between different childcare settings and philosophies. Further efforts are needed to investigate effective integration and use of technology for communication

A qualitative comparison of parent and childcare provider perceptions of communication and family engagement in children\u27s healthy eating and physical activity

Background Parents and childcare providers play a substantial role in the development of health behaviours among the children they care for. In order to ensure the optimal growth and development of children, communication and family engagement in childcare is critical. Previous studies examining parent or provider perceptions about healthy eating or physical activity have explored these concepts individually and/or have only included only parents or providers. Therefore, the purpose of this study was to compare childcare provider and parent perceptions of communication regarding healthy eating and physical activity as well as use of best practice strategies on family engagement for these topics. Methods Childcare providers (n = 12) in childcare centres or a family childcare home and a parent (n = 12) of a child they provide care for participated in a semi-structured interview guided by the Social Ecological Model. Interviews were transcribed verbatim and uploaded to NVivo for data analysis. Data were analysed using a directed content analysis. Three trained qualitative researchers developed a codebook and then compared responses between parents and providers. Results Similarities in provider and parent responses included agreement on healthy eating; influences on child development; parents being the most influential on children\u27s healthy eating; how they identified physical activity opportunities; and the use of family engagement principles. Differences that arose included parents\u27 roles in promoting children\u27s physical activity; challenges for parents in promoting healthy eating and physical activity; and providers\u27 encouragement of physical activity. Importantly, few parents mentioned providers were top influences on their child\u27s healthy eating or physical activity. Providers also mentioned having difficult conversations with parents was challenging. Conclusions Future efforts are needed to (1) help parents understand the providers\u27 role in the development of their child\u27s health behaviours and (2) strengthen efforts to engage families in healthy behaviours outside of childcare facilities

Transferability and Fine Mapping of Type 2 Diabetes Loci in African Americans: The Candidate Gene Association Resource Plus Study

Type 2 diabetes (T2D) disproportionally affects African Americans (AfA) but, to date, genetic variants identified from genome-wide association studies (GWAS) are primarily from European and Asian populations. We examined the single nucleotide polymorphism (SNP) and locus transferability of 40 reported T2D loci in six AfA GWAS consisting of 2,806 T2D case subjects with or without end-stage renal disease and 4,265 control subjects from the Candidate Gene Association Resource Plus Study. Our results revealed that seven index SNPs at the TCF7L2, KLF14, KCNQ1, ADCY5, CDKAL1, JAZF1, and GCKR loci were significantly associated with T2D (P < 0.05). The strongest association was observed at TCF7L2 rs7903146 (odds ratio [OR] 1.30; P = 6.86 × 10−8). Locus-wide analysis demonstrated significant associations (Pemp < 0.05) at regional best SNPs in the TCF7L2, KLF14, and HMGA2 loci as well as suggestive signals in KCNQ1 after correction for the effective number of SNPs at each locus. Of these loci, the regional best SNPs were in differential linkage disequilibrium (LD) with the index and adjacent SNPs. Our findings suggest that some loci discovered in prior reports affect T2D susceptibility in AfA with similar effect sizes. The reduced and differential LD pattern in AfA compared with European and Asian populations may facilitate fine mapping of causal variants at loci shared across populations

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization. Both independent mechanisms reduce SLC16A11 function and suggest SLC16A11 is the causal gene at this locus. To gain insight into how SLC16A11 disruption impacts T2D risk, we demonstrate that SLC16A11 is a proton-coupled monocarboxylate transporter and that genetic perturbation of SLC16A11 induces changes in fatty acid and lipid metabolism that are associated with increased T2D risk. Our findings suggest that increasing SLC16A11 function could be therapeutically beneficial for T2D. Video Abstract [Figure presented] Keywords: type 2 diabetes (T2D); genetics; disease mechanism; SLC16A11; MCT11; solute carrier (SLC); monocarboxylates; fatty acid metabolism; lipid metabolism; precision medicin

Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin

Knowledge of the genetic basis of the type 2 diabetes (T2D)-related quantitative traits fasting glucose (FG) and insulin (FI) in African ancestry (AA) individuals has been limited. In non-diabetic subjects of AA (n = 20,209) and European ancestry (EA; n = 57,292), we performed trans-ethnic (AA+EA) fine-mapping of 54 established EA FG or FI loci with detailed functional annotation, assessed their relevance in AA individuals, and sought previously undescribed loci through trans-ethnic (AA+EA) meta-analysis. We narrowed credible sets of variants driving association signals for 22/54 EA-associated loci; 18/22 credible sets overlapped with active islet-specific enhancers or transcription factor (TF) binding sites, and 21/22 contained at least one TF motif. Of the 54 EA-associated loci, 23 were shared between EA and AA. Replication with an additional 10,096 AA individuals identified two previously undescribed FI loci, chrX FAM133A (rs213676) and chr5 PELO (rs6450057). Trans-ethnic analyses with regulatory annotation illuminate the genetic architecture of glycemic traits and suggest gene regulation as a target to advance precision medicine for T2D. Our approach to utilize state-of-the-art functional annotation and implement trans-ethnic association analysis for discovery and fine-mapping offers a framework for further follow-up and characterization of GWAS signals of complex trait loc

Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes

Type 2 diabetes (T2D) is more prevalent in African Americans than in Europeans. However, little is known about the genetic risk in African Americans despite the recent identification of more than 70 T2D loci primarily by genome-wide association studies (GWAS) in individuals of European ancestry. In order to investigate the genetic architecture of T2D in African Americans, the MEta-analysis of type 2 DIabetes in African Americans (MEDIA) Consortium examined 17 GWAS on T2D comprising 8,284 cases and 15,543 controls in African Americans in stage 1 analysis. Single nucleotide polymorphisms (SNPs) association analysis was conducted in each study under the additive model after adjustment for age, sex, study site, and principal components. Meta-analysis of approximately 2.6 million genotyped and imputed SNPs in all studies was conducted using an inverse variance-weighted fixed effect model. Replications were performed to follow up 21 loci in up to 6,061 cases and 5,483 controls in African Americans, and 8,130 cases and 38,987 controls of European ancestry. We identified three known loci (TCF7L2, HMGA2 and KCNQ1) and two novel loci (HLA-B and INS-IGF2) at genome-wide significance (4.15×10−94<P<5×10−8, odds ratio (OR) = 1.09 to 1.36). Fine-mapping revealed that 88 of 158 previously identified T2D or glucose homeostasis loci demonstrated nominal to highly significant association (2.2×10−23 < locus-wide P<0.05). These novel and previously identified loci yielded a sibling relative risk of 1.19, explaining 17.5% of the phenotypic variance of T2D on the liability scale in African Americans. Overall, this study identified two novel susceptibility loci for T2D in African Americans. A substantial number of previously reported loci are transferable to African Americans after accounting for linkage disequilibrium, enabling fine mapping of causal variants in trans-ethnic meta-analysis studies

Genetic Drivers of Heterogeneity in Type 2 Diabetes Pathophysiology

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P \u3c 5 × 10-8) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores5 in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care